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Vincenzo ROCHIRA

Professore Associato
Dipartimento di Scienze Biomediche, Metaboliche e Neuroscienze sede ex-Medicina, Endocrinologia, Metabolismo e Geriatria


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Pubblicazioni

2023 - Labile plasma iron and echocardiographic parameters are associated to cardiac events in beta-thalassemic patients [Articolo su rivista]
Ferrara, F; Coppi, F; Riva, R; Ventura, P; Ricci, A; Mattioli, Av; Talarico, M; Garuti, C; Bevini, M; Rochira, V; Buzzetti, E; Pietrangelo, A; Corradini, E
abstract

Background and aim: Notwithstanding the improvement in therapies, patients affected by thalassemia major (TM) and intermedia (TI) are still at high risk of cardiac complications. This study aimed at evaluating the incidence and predictive factors for developing cardiac events in adult β-TM and TI patients. Population andmethods: Data on diagnosis and clinical historywere collected retrospectively; prospective data on new-onset cardiac failure and arrhythmias, echocardiographic parameters, biochemical variables including non-transferrin-bound iron (NTBI) and labile plasma iron (LPI), magnetic resonance imaging (MRI) T2* measurement of hepatic and cardiac iron deposits, and iron chelation therapy were recorded during a 6 year follow-up. Results: Thirty-seven patients, 29 TM and 8 TI, were included. At baseline, 8 TM patients and 1 TI patient had previously experienced a cardiac event (mainly heart failure). All patients were on chelation therapy and only 3 TM patients had mild-to-severe cardiac siderosis. During follow-up, 11 patients (29.7%) experienced a new cardiac event. The occurrence of cardiac events was correlated to high LPI levels (OR 12.0, 95% CI 1.56-92.3, p 0.017), low mean pre-transfusion hemoglobin (OR 0.21, 95% C.I. 0.051-0.761, p 0.21), and echocardiographic parameters suggestive of myocardial hypertrophy. Multivariate analysis disclosed high LPI and left ventricle mass index (LVMI) as independent variables significantly associated with cardiac events. Cardiac iron deposits measured by MRI T2* failed to predict cardiac events. Conclusion: LPI, Hb levels, and echocardiographic parameters assessing cardiac remodeling are associated to cardiac events in adult TM and TI patients. LPI might represent both a prognostic marker and a potential target for novel treatment strategies. Further studies are warranted to confirm our findings on larger populations


2022 - COVID-19 lockdown negatively impacted on adherence to denosumab therapy: incidence of non-traumatic fractures and role of telemedicine [Articolo su rivista]
De Vincentis, S; Domenici, D; Ansaloni, A; Boselli, G; D'Angelo, G; Russo, A; Taliani, E; Rochira, V; Simoni, M; Madeo, B
abstract

Purpose Coronavirus disease (COVID-19) lockdowns have impacted on management of osteoporosis and the use of telemedicine is increasingly widespread albeit supported by little evidence so far. The aim of the study is to assess adherence to denosumab and incidence of non-traumatic fractures during the lockdown compared to the pre-COVID-19 year and to explore the effectiveness of telemedicine in the management of osteoporotic patients. Methods Retrospective, longitudinal, single-center study on patients receiving subcutaneous denosumab therapy every 6 months. Each patient was scheduled to undergo 2 visits: one during the pre-COVID-19 period (March 2019-March 2020) and another visit during the lockdown period (March 2020-March 2021). Data on new fractures, adherence, risk factors for osteoporosis and the modality of visit (telemedicine or face-to-face) were collected. Results The prevalence of non-adherent patients was higher during the lockdown (35 of 269 patients, 13.0%) than the pre-COVID-19 period (9 of 276 patients, 3.3%) (p < 0.0001). During the lockdown, the number of new non-traumatic fractures was higher than the pre-COVID-19 year (p < 0.0001): 10 patients out of 269 (3.7%) experienced a fragility fracture and 2 patients (0.7%) a probable rebound fracture during the lockdown period, whereas no patient had fragility/rebound fractures during the pre-COVID-19 period. No difference was found in the prevalence of non-adherence and new non-traumatic fractures comparing patients evaluated with tele-medicine to those evaluated with face-to-face visit. Conclusion Non-adherent patients and new non-traumatic fractures (including rebound fractures) were more prevalent during the lockdown in comparison to the pre-COVID-19 period, regardless of the modality of medical evaluation.


2022 - Determinants of sexual function in men living with HIV younger than 50 years old: Focus on organic, relational, and psychological issues [Articolo su rivista]
De Vincentis, Sara; Decaroli, Maria Chiara; Milic, Jovana; Fanelli, Flaminia; Tartaro, Giulia; Diazzi, Chiara; Mezzullo, Marco; De Santis, Maria Cristina; Roli, Laura; Trenti, Tommaso; Santi, Daniele; Pagotto, Uberto; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

Background: Sexual dysfunctions, particularly erectile dysfunction, are common in men living with HIV, whose organic and psychological components remain to be clarified. The aim of the study is to investigate the impact of risk factors of sexual dysfunctions, including organic, relational, and psychological determinants of erectile function, in men living with HIV younger than 50 years old. Methods: A cross-sectional, observational study was conducted in men living with HIV < 50 years. The questionnaire International Index of Erectile Function-15 was used to assess the prevalence and degree of erectile dysfunction. The structured interview of erectile dysfunction was used to explore the organic (Scale 1), relational (Scale 2), and psychological (Scale 3) components of erectile dysfunction. Total testosterone, estradiol, and dihydrotestosterone were measured by liquid chromatography-tandem-mass spectrometry; free testosterone was calculated by the Vermeulen equation. Results: A total of 313 consecutive men living with HIV were prospectively enrolled (median age 47.0 years; median HIV-infection duration 16.2 years). 187 patients (59.7%) had erectile dysfunction, with a higher prevalence of non-heterosexual (138 out of 187, 73.8%) than heterosexual patients (p = 0.003). Patients with erectile dysfunction showed a worse score of structured interview of erectile dysfunction scale 3 compared to patients without erectile dysfunction (p = 0.025); the International Index of Erectile Function-15 was inversely related to structured interview of erectile dysfunction scale 3 (p = 0.042). No difference was found for sex steroids (total testosterone, estradiol, free testosterone, and dihydrotestosterone) between men living with HIV with and without erectile dysfunction. In the multivariate analysis sexual orientation, and lack of stable relationships were major determinants for erectile dysfunction. Only 35 of 187 patients with erectile dysfunction (18.7%) reported the use of erectile dysfunction medications. Conclusions: Within the multidimensional network of erectile dysfunction in men living with HIV, the psychological component is predominant, highlighting the contribution of peculiar factors related to HIV distress (e.g., fear of virus transmission, stigma) rather than gonadal status and other classical risk factors. In contrast to the high prevalence, only a few patients reported the use of erectile dysfunction medications suggesting a general under-management of such issues.


2022 - First baseline data of the Klinefelter ItaliaN Group (KING) cohort: clinical features of adult with Klinefelter syndrome in Italy [Articolo su rivista]
Pasquali, D; Chiodini, P; Simeon, V; Ferlin, A; Vignozzi, L; Corona, G; Lanfranco, F; Rochira, V; Calogero, A E; Bonomi, M; Pivonello, R; Balercia, G; Pizzocaro, A; Giagulli, V A; Salacone, P; Aversa, A; Accardo, G; Maggi, M; Lenzi, A; Isidori, A; Foresta, C; Jannini, E A; Garolla, A
abstract

Background Klinefelter syndrome (KS) is frustratingly under-diagnosed. KS have a broad spectrum of clinical features, making it difficult to identify. Objective We describe KS clinical presentation in a large Italian cohort. Design This is the first observational cohort study within a national network, the Klinefelter ItaliaN Group (KING). Primary outcomes were to describe the basic clinical features and the actual phenotype of KS in Italy. Secondary outcomes were to determine age at diagnosis and geographical distribution. Methods We performed a basic phenotyping and evaluation of the hormonal values of 609 adult KS patients. Results Mean age at diagnosis was 37.4 +/- 13.4 years. The overall mean testicular size was 3 ml, and 2.5 ml in both testes in untreated KS group. BMI was 26.6 +/- 5.8 kg/m(2), and 25.5% of KS had metabolic syndrome (MetS). LH and FSH were increased, and mean total testosterone were 350 +/- 9.1 ng/dl. A descriptive analysis showed that 329 KS patients were evaluated in Northern Italy, 76 in Central and 204 in Southern Italy. Analysis of variance demonstrated significant statistical differences (p < 0001) between the age at diagnosis of the three geographical groups. Compared with the expected number among male patients matched for age in Italy, only 16% of KS patients received a diagnosis. Conclusions These data are the results of the only national database available that collects the clinical and hormonal data of the KS patients, currently referred at the KING centers. In Italy the typical KS patient is overweight, with small testes, and elevated LH and FSH. Only 25.5% of them are diagnosed with MetS. Early detection and timely treatment are mandatory.


2022 - Hypersexuality as a tip of the iceberg of a primary psychopathology: a joined position statement of the Italian Society of Andrology and Sexual Medicine (SIAMS) and of the Italian Society of Psychopathology (SOPSI) [Articolo su rivista]
Limoncin, E.; Ciocca, G.; Castellini, G.; Sansone, A.; Cavalieri, F.; Cavallo, F.; Cocchiaro, T.; Ricca, V.; di Lorenzo, G.; Rossi, A.; Fisher, A. D.; Rochira, V.; Corona, G.; Jannini, E. A.
abstract

In the last years, hypersexual behavior has been broadly scientifically studied. The interest in this topic, belonging to psycho-sexology and sexual medicine, has been due to its still unclear aetiology, nature, and its manifestation in relationship with several organic and psychopathological conditions. So, the specialist (the psychologist, psychiatrist, endocrinologist, neurologist) may encounter some difficulties in diagnosing and managing this symptom. The first main objective of this position statement, which has been developed in collaboration between the Italian Society of Andrology and Sexual Medicine (SIAMS) and the Italian Society of Psychopathology (SOPSI) is to give to the reader evidence about the necessity to consider hypersexuality as a symptom related to another underlying condition. Following this consideration, the second main objective is to give specific statements, for the biopsychosocial assessment and the diagnosis of hypersexual behavior, developed on the basis of the most recent literature evidence. To develop a psycho-pharmacological treatment tailored on patients’ needs, our suggestion is to assess the presence of specific comorbid psychopathological and organic conditions, and the impact of pharmacological treatments on the presence of an excess of sexual behavior. Finally, a suggestion of a standardized psychometric evaluation of hypersexuality will be given.


2022 - Management of male factor infertility: position statement from the Italian Society of Andrology and Sexual Medicine (SIAMS): Endorsing Organization: Italian Society of Embryology, Reproduction, and Research (SIERR) [Articolo su rivista]
Ferlin, A.; Calogero, A. E.; Krausz, C.; Lombardo, F.; Paoli, D.; Rago, R.; Scarica, C.; Simoni, M.; Foresta, C.; Rochira, V.; Sbardella, E.; Francavilla, S.; Corona, G.
abstract

Purpose: Infertility affects 15–20% of couples and male factors are present in about half of the cases. For many aspects related to the diagnostic and therapeutic approach of male factor infertility, there is no general consensus, and the clinical approach is not uniform. Methods: In the present document by the Italian Society of Andrology and Sexual Medicine (SIAMS), endorsed by the Italian Society of Embryology, Reproduction, and Research (SIERR), we propose evidence-based recommendations for the diagnosis, treatment, and management of male factor infertility to improve patient and couple care. Results: Components of the initial evaluation should include at minimum medical history, physical examination, and semen analysis. Semen microbiological examination, endocrine assessment, and imaging are suggested in most men and recommended when specific risk factors for infertility exist or first-step analyses showed abnormalities. Full examination including genetic tests, testicular cytology/histology, or additional tests on sperm is clinically oriented and based on the results of previous investigations. For treatment purposes, the identification of the specific cause and the pathogenetic mechanism is advisable. At least, distinguishing pre-testicular, testicular, and post-testicular forms is essential. Treatment should be couple-oriented, including lifestyle modifications, etiologic therapies, empirical treatments, and ART on the basis of best evidence and with a gradual approach. Conclusion: These Guidelines are based on two principal aspects: they are couple-oriented and place high value in assessing, preventing, and treating risk factors for infertility. These Guidelines also highlighted that male infertility and in particular testicular function might be a mirror of general health of a man.


2022 - Primary, secondary and compensated male biochemical hypogonadism in people living with HIV (PLWH): relevance of sex hormone-binding globulin (SHBG) measurement and comparison between liquid chromatography-tandem mass spectrometry (LC-MS/MS) and chemiluminescent immunoassay for sex steroids assay [Articolo su rivista]
De Vincentis, Sara; Decaroli, Maria Chiara; Fanelli, Flaminia; Diazzi, Chiara; Mezzullo, Marco; Tartaro, Giulia; Tagliavini, Simonetta; De Santis, Maria Cristina; Roli, Laura; Milic, Jovana; Trenti, Tommaso; Pagotto, Uberto; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

Background: Data about classification of hypogonadism and estrogen deficiency in male people living with HIV (PLWH) are scanty. Aim: To investigate the prevalence and characterization of biochemical hypogonadism and relative estrogen deficiency in male PLWH aged < 50 comparing liquid chromatography-tandem mass spectrometry (LC-MS/MS) with chemiluminescent immunoassay (CI), and combining gonadotropin, sex hormone-binding globulin (SHBG) and serum estradiol (E2) measurements. Methods: Prospective, cross-sectional, observational study. Serum total testosterone (TT), E2, gonadotropins, SHBG were measured by CI. TT and E2 were also assessed by LC-MS/MS. Free testosterone (cFT) was calculated by Vermeulen equation. Results: A total of 316 PLWH (45.3 ± 5.3 years) were enrolled. TT and cFT by LC-MS/MS were lower compared to CI (p < 0.0001). The prevalence of biochemical hypogonadism was higher with LC-MS/MS than CI, both for TT (5.1% vs 3.2%, p < 0.0001) or cFT (9.5% vs 7%, p < 0.0001). The prevalence of hypogonadism (overt + compensated) was 17.1% for cFT using LC-MS/MS. Secondary form of hypogonadism was more prevalent than primary. The prevalence of relative estrogen deficiency was of 30.0% among hypogonadal patients and 15.5% among eugonadal. Conclusions: The prevalence of male hypogonadism results underestimated by CI compared to LC-MS/MS in PLWH, both for TT and cFT. SHBG and gonadotropins are essential for detecting T deficiency.


2022 - Qualitative and quantitative analysis of doctor-patient interactions during andrological consultations [Articolo su rivista]
Santi, Daniele; Spaggiari, Giorgia; Romeo, Marilina; Ebert, Riccardo; Corradini, Federico; Baraldi, Claudio; Granata, Antonio R M; Rochira, Vincenzo; Simoni, Manuela; Gavioli, Laura; Niemants, Natacha S A
abstract

Although a trustworthy connection between doctor and patient is crucial in clinical practice, it could be hindered by different cultural and linguistic backgrounds. Moreover, an effective doctor-patient interaction could be even more challenging in andrological fields, in which psychological and social components are predominant.


2021 - ESE audit on management of adult growth hormone deficiency in clinical practice. [Articolo su rivista]
Martel-Duguech, L.; Jorgensen, J. O. L.; Korbonits, M.; Johannsson, G.; Webb on behalf of the ESE AGHD Study Group for a Pan-European audit, S.; Monzani, M. L.; Rochira, V.
abstract

Guidelines recommend adults with pituitary disease in whom GH therapy is contemplated, to be tested for GH deficiency (AGHD); however, clinical practice is not uniform. Aims: 1) To record current practice of AGHD management throughout Europe and benchmark it against guidelines; 2) To evaluate educational status of healthcare professionals about AGHD. Design: On-line survey in endocrine centres throughout Europe. Patients and methods: Endocrinologists voluntarily completed an electronic questionnaire regarding AGHD patients diagnosed or treated in 2017-2018. Results: Twenty-eight centres from 17 European countries participated, including 2139 AGHD patients, 28% of childhood-onset GHD. Aetiology was most frequently non-functioning pituitary adenoma (26%), craniopharyngioma (13%) and genetic/congenital mid-line malformations (13%). Diagnosis of GHD was confirmed by a stimulation test in 52% (GHRH+arginine, 45%; insulin-tolerance, 42%, glucagon, 6%; GHRH alone and clonidine tests, 7%); in the remaining, ≥3 pituitary deficiencies and low serum IGF-I were diagnostic. Initial GH dose was lower in older patients, but only women <26 years were prescribed a higher dose than men; dose titration was based on normal serum IGF-I, tolerance and side-effects. In one country, AGHD treatment was not approved. Full public reimbursement was not available in four countries and only in childhood-onset GHD in another. AGHD awareness was low among non-endocrine professionals and healthcare administrators. Postgraduate AGHD curriculum training deserves being improved. Conclusion: Despite guideline recommendations, GH replacement in AGHD is still not available or reimbursed in all European countries. Knowledge among professionals and health administrators needs improvement to optimize care of adults with GHD.


2021 - Gynecological malignancy mimicking a thyroid lymph node metastasis. [Articolo su rivista]
Pederzoli, S.; Spaggiari, G.; Bernardelli, G.; Mattioli, F.; Baldessari, C.; Maiorana, A.; Rochira, V.; Santi, D.
abstract

We present the case of a 69-year-old woman who attended the Endocrinology Unit of Modena for a suspicious lymph node in the left cervical compartment discovered during the follow-up of a recurrent gynecological malignancy. At neck ultrasonography, a thyroid goiter was detected, and the further cytological examination was inconclusive for thyroid nodule and compatible with a localization of an adenocarcinoma with papillary architecture for the lymph node. The histological examination after a left neck dissection confirmed the presence of an intracapsular metastasis of a papillary carcinoma immunohistochemically focally positive for thyroid transcription factor 1 and paired box 8 and negative for thyroglobulin. Subsequently, in the suspicion of a thyroid primitiveness, a total thyroidectomy was performed, revealing an intraparenchymal follicular variant of papillary thyroid carcinoma of 2 mm in the right lobe. During the follow-up, the appearance of a suspected cervical metastatic lesion led to another neck dissection, histologically compatible with a papillary carcinoma localization, immunohistochemically focally positive for thyroid transcription factor 1 and paired box 8, and negative for thyroglobulin. The histological revision of surgical specimens suggests the cervical recurrence of the prior gynecological cancer, rather than a thyroid carcinoma metastasis. The case described shows how carefully the cytological, histological and immunoistochemical results must be evaluated in oncological management, considering the whole patient’s history.


2021 - Hiv and sexual dysfunction in men [Articolo su rivista]
De Vincentis, S.; Tartaro, G.; Rochira, V.; Santi, D.
abstract

Sexual issues tend to go unaddressed in human immunodeficiency virus (HIV) man-agement, although overt sexual dysfunctions are more prevalent in people living with HIV than uninfected people. Erectile dysfunction is the most frequent sexual problem, with a prevalence of 30–50% even in men <40 years of age, but other issues such as loss of libido and ejaculatory disorders should not be overlooked. Peculiar factors related to HIV infection (e.g., fear of virus trans-mission, changes in body image, HIV-related comorbidities, HIV distress and stigma), alongside classical factors non-related to HIV, should be considered when approaching sexual problems in HIV patients. For this reason, the diagnostic and therapeutic workout of sexual dysfunction in the context of HIV requires a multidisciplinary approach, involving specialists in both infectious diseases and sexual medicine. This narrative review presents an overview of current knowledge on sexual dysfunction in HIV men, deepening the factors driving and taking part in these issues, providing advice for the clinical approach, and underlining the importance of caring for sexual health to improve the quality of life of HIV patients.


2021 - L’ormone luteinizzante e la gonadotropina corionica umana: attività molecolari e cliniche mediate da un unico recettore [Articolo su rivista]
Sperduti, Samantha; Paradiso, Elia; Lazzaretti, Clara; Rochira, Vincenzo; Brigante, Giulia; Santi, Daniele; Simoni, Manuela; Casarini, Livio
abstract


2021 - Real-life use of BRAF-V600E mutation analysis in thyroid nodule fine needle aspiration: consequences on clinical decision-making [Articolo su rivista]
Brigante, G.; Craparo, A.; Pignatti, E.; Marino, M.; Monzani, M. L.; De Vincentis, S.; Casarini, L.; Sperduti, S.; Boselli, G.; Margiotta, G.; Ippolito, M.; Rochira, V.; Simoni, M.
abstract

Purpose: This study aimed to evaluate the real-life use of BRAF-V600E mutation analysis in washout liquid from thyroid nodule fine needle aspiration (FNA), and the consequences of genetic result on clinical decision-making. Methods: We retrospectively considered subjects tested for BRAF-V600E among those attending the Endocrinology Unit of Modena for FNA between 2014 and 2018. Washing fluid was collected together with cytological sample and stored at −20 °C. If the clinician deemed it necessary, the sample was thawed, DNA extracted, and genetic test performed by high-resolution melting technique. We collected data on cytology according to the Italian Consensus for the cytological classification of thyroid nodules, type of surgery (when performed), histology, and adverse events. Results: Out of 7112 subjects submitted to FNA, BRAF analysis was requested for 683 (9.6%). Overall, 896 nodules were analyzed: 74% were indeterminate at cytology, mainly TIR3A (low risk). Twenty-two nodules were mutant (BRAF+). Only 2% of indeterminate, mainly TIR3B, were BRAF+. Based on final histological diagnosis, BRAF test had high specificity (100%) but poor sensitivity (21%), also in indeterminate nodules. Mutant subjects underwent more extensive surgery compared to wild type (p = 0.000), with frequent prophylactic central lymph node dissection. One third had local metastases. Higher prevalence of hypoparathyroidism was found in BRAF+ compared to wild type (p = 0.018). Conclusions: The analysis of BRAF-V600E outside of gene panels has low sensitivity, especially in indeterminate nodules, and a positive result could lead to more extensive surgery with greater risk of hypoparathyroidism and questionable clinical utility.


2021 - Reduced FSH and LH action: implications for medically assisted reproduction [Articolo su rivista]
Bosch, E.; Alviggi, C.; Lispi, M.; Conforti, A.; Hanyaloglu, A. C.; Chuderland, D.; Simoni, M.; Raine-Fenning, N.; Crepieux, P.; Kol, S.; Rochira, V.; D'Hooghe, T.; Humaidan, P.
abstract

Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) play complementary roles in follicle development and ovulation via a complex interaction in the hypothalamus, anterior pituitary gland, reproductive organs, and oocytes. Impairment of the production or action of gonadotropins causes relative or absolute LH and FSH deficiency that compromises gametogenesis and gonadal steroid production, thereby reducing fertility. In women, LH and FSH deficiency is a spectrum of conditions with different functional or organic causes that are characterized by low or normal gonadotropin levels and low oestradiol levels. While the causes and effects of reduced LH and FSH production are very well known, the notion of reduced action has received less attention by researchers. Recent evidence shows that molecular characteristics, signalling as well as ageing, and some polymorphisms negatively affect gonadotropin action. These findings have important clinical implications, in particular for medically assisted reproduction in which diminished action determined by the afore-mentioned factors, combined with reduced endogenous gonadotropin production caused by GnRH analogue protocols, may lead to resistance to gonadotropins and, thus, to an unexpected hypo-response to ovarian stimulation. Indeed, the importance of LH and FSH action has been highlighted by the International Committee for Monitoring Assisted Reproduction Technologies (ICMART) in their definition of hypogonadotropic hypogonadism as gonadal failure associated with reduced gametogenesis and gonadal steroid production due to reduced gonadotropin production or action. The aim of this review is to provide an overview of determinants of reduced FSH and LH action that are associated with a reduced response to ovarian stimulation.


2021 - Response to the letter to the Editor by Dr. Rosario: “The calcium-to-phosphorous (Ca/P) ratio in the diagnosis of primary hyperparathyroidism and hypoparathyroidism: a multicentric study”. [Articolo su rivista]
Madeo, B.; De Vincentis, S.; Rochira, V.
abstract

not available


2021 - Robotic Versus Laparoscopic Adrenalectomy: Pluriannual Experience in a High-Volume Center Evaluating Indications and Results [Articolo su rivista]
Piccoli, Micaela; Pecchini, Francesca; Serra, Francesco; Nigro, Casimiro; Colli, Giovanni; Gozzo, Davide; Zirilli, Lucia; Madeo, Bruno; Rochira, Vincenzo; Mullineris, Barbara
abstract

Background: Robotic adrenalectomy offers several clinical benefits if compared with laparoscopic adrenalectomy; however, its superiority is still under debate. The aim of this study was the investigation of differences between the two techniques, and a comparison when approaching right or left side adrenal lesions was further conducted. Materials and Methods: All patients undergoing laparoscopic and robotic unilateral adrenalectomy at our institution from January 2006 to December 2019 were collected and retrospectively analyzed. Statistical analysis was conducted; differences between the two cohorts were reported. Results: A total of 160 cases were included (84 patients in laparoscopic adrenalectomy-group [LA-g] 76 cases in robotic adrenalectomy-group [RA-g]). The groups were homogeneous for demographic data. No intraoperative complications were reported; mean amount of intraoperative blood loss was comparable. No cases of conversion to open surgery were required. RA-g presented a longer operative time than LA-g for right adrenalectomy (P = .05), no differences were noted for left side (P = .187). Overall morbidity was 21% for LA-g and 10.5% for RA-g (P = .087), with an inferior rate of surgical complications for RA-g (P = .024), and for robotic left adrenalectomy than robotic right procedure (P = .03). Length of hospital stay was shorter for RA-g (P = .005). Conclusions: Robotic adrenalectomy presents similar outcomes as laparoscopic approach with some benefits for selected cases. Left adrenal lesions seem to receive greater advantages from robotic technique. Large randomized controlled trials are required to determine the role of robotic adrenal surgery and if the indication can be standardized based on the laterality of adrenal procedure.


2021 - Ruolo diagnostico del dosaggio della calcitonina su liquido di lavaggio da agoaspirato tiroideo nel carcinoma midollare della tiroide [Articolo su rivista]
Brigante, Giulia; Madeo, Bruno; Diazzi, Chiara; Simoni, Manuela; Rochira, Vincenzo
abstract


2021 - Sexual dysfunction: a neglected and overlooked issue in adult GH deficiency: the management of AGHD study. [Articolo su rivista]
Monzani, M. L.; Pederzoli, S.; Volpi, L.; Magnani, E.; Diazzi, C.; Rochira, V.
abstract

Context: Although sexuality influences well-being and quality of life (QoL), studies on sexual dysfunction (SD) in adult growth hormone deficiency (AGHD) patients are lacking. Objective: To investigate the prevalence of SD in AGHD patients grouped according to recombinant human growth hormone (r-hGH) therapy. Design: Prospective, cross-over, 24 months, monocentric study. Setting: Real-life clinical setting in a tertiary, endocrinological center. Patients: 83 AGHD patients (31 women, 52 men, mean age 56.3 ± 14.7 years) were enrolled according to stringent criteria. Interventions: Patients already on long-term r-hGH therapy (Group 1, n = 32) vs untreated (Group 2, n = 51). Main outcome measures: Serum hormones, QoL Satisfaction in Hypopituitarism (QLS-H) and QoL Assessment of GHD in Adults (QoL-AGHDA) questionnaires for QoL, Index for Erectile Function-15 (IIEF-15) in men, and Female Sexual Function Index (FSFI) in women for SD. Results: The overall prevalence of SD was 71.2% (60% men, 89% women). All IIEF-15 scores were lower (P = 0.001) and erectile dysfunction was more prevalent in Group 2 (75%) than Group 1 (35%). IGF-1 was correlated to scores of all IIEF-15 domains, particularly with that of erectile function (EF) (R2=0.123, P = 0.019). EF domain score correlated with QLS-H (P < 0.005) and QoL-AGHDA (P = 0.001). Despite the high prevalence of female SD also in untreated AGHD women, FSFI scores did not correlate with IGF-1 levels and QoL scores. Conclusions: SD is highly prevalent in AGHD patients, especially in those untreated. SD represents an overlooked and neglected issue in AGHD, regardless the contribution of sexual life on QoL. The evaluation of sexual function should be integrated in the global assessment of AGHD patients


2021 - The prevalence of hypogonadism and the effectiveness of androgen administration on body composition in hiv‐infected men: A meta‐analysis [Articolo su rivista]
Santi, D.; Spaggiari, G.; Vena, W.; Pizzocaro, A.; Maggi, M.; Rochira, V.; Corona, G.
abstract

Background: Hypogonadism is a common comorbidity in human immunodeficiency virus (HIV)‐infected men, although the real prevalence is difficult to be estimated. Moreover, in HIV settings, the efficacy of exogenous testosterone (Te) administration at improving body composition remains unclear. Aim of the study: This review has a double aim. First, to estimate the prevalence of pituitary–testis axis abnormality in HIV‐infected patients compared to uninfected subjects. Second, to evaluate the effect of androgen administration on body composition in HIV‐infected men. Materials and Methods: A systematic review of the literature and meta‐analysis was carried out. Two separated literature searches were performed, the first to evaluate the prevalence of Te deficiency in HIV‐infected men and the second one to evaluate effects of androgen administration on body composition. Results: The overall prevalence of Te deficiency in HIV‐infected men was calculated from 41 studies, showing a 26% prevalence, which was even higher when free T (fT) levels, more than total T, were considered. Indeed, TT serum levels were similar between HIV patients and controls, although higher SHBG and lower fT were detected in HIV populations. When HIV‐infected men were treated with exogenous Te, a significant increase in body weight, lean body mass and fat free mass was detected. Conclusion: The systematic review confirms the high prevalence of Te deficiency in HIV‐infected men, particularly when fT has been considered. Moreover, chronic androgen supplementation improves body composition, affecting the lean mass compartment. However, considering the general frailty of HIV patients, a tailored indication for Te therapy should be advocated.


2020 - Clinical practice survey on BRAF V600E role in the therapeutic deci- sion in indeterminate thyroid cytology [Abstract in Atti di Convegno]
Brigante, G.; Craparo, A.; Pignatti, E.; Marino, M.; Casarini, L.; Sperduti, S.; Boselli, G.; Margiotta, G.; Rochira, V.; Simoni, M.
abstract

Introduction The use of multigene panels in thyroid nodule diagnosis is still limited, due to high costs and need for ad hoc sampling. Since BRAF-V600E is the com- monest genetic alteration in differentiated thyroid cancer, this is the mostly tested genetic parameter in clinical practice. Aim To evaluate the use of BRAF mutation analysis in wash-out liquid from fine needle aspiration (FNA) in clinical practice, characterizing the cases in which it is requested, and the consequences of genetic test result on thera- peutic decisions. Methods We considered all the subjects tested for BRAF-V600E among those attend- ing the Endocrinology Unit of Modena for FNA between January 2014 and November 2018. After written informed consent, washing fluid was collected together with cytological sample and stored at –20°C. If the clinician deemed it necessary, the sample was thawed, DNA was extracted and genetic test was performed by the high-resolution melting protocol previously described1. We collected cytology of nodules according to the 2010 SIAPEC-IAP Italian Consensus, and when surgical treatment was performed, histology. Results Out of a total of 7112 subjects submitted to FNA, BRAF analysis was re- quested for 681 (9.6%), for a total of 898 nodules: 97% of nodules were indeterminate at cytology, mainly TIR3A (low risk); 2% suspicious or di- agnostic for cancer, and genetic test was requested to estimate prognosis; 1% were suspect nodules at ultrasonography with unsuspicious cytology. Only 22 nodules were mutant (BRAF+).Most of them were already high risk or suspicious lesions at cytology (64%). One third were TIR3A. Con- sidering the prevalence of BRAF mutation among cytological classes of the whole group, only 1% of TIR3A were BRAF+. Twenty BRAF+ patients were addressed to surgery (one lost at follow-up, one refused): 5% underwent hemithyroidectomy, 25% total thyroidectomy and 70% total thyroidectomy plus central lymph nodes dissection. They all had papillary thyroid cancer. Since 64% of BRAF+ were TIR3B-4-5 at cytology, they had surgical indica- tion even before the genetic test. Among the 14 subjects treated with central neck dissection, only 2 had suspect metastasis before surgery; among those who would have had no indication, one third had metastases (only 1 among TIR3A and 2 among TIR3B). Conclusions Despite the development of panels, single gene tests are still requested, mainly for nodules with indeterminate low risk cytology. BRAF mutation in TIR3A is rare and leads clinicians to more invasive surgery, with question- able clinical utility.


2020 - De novo Lesions Frequently Develop in Adult Normal Thyroid Over Almost Six Years [Articolo su rivista]
Brigante, Giulia; Monzani, Maria Laura; Locaso, Michela; Gnarini, Valentina Luisa; Graziadei, Luigi; Kaleci, Shaniko; De Santis, Maria Cristina; Tagliavini, Simonetta; Simoni, Manuela; Rochira, Vincenzo; Madeo, Bruno
abstract

Purpose: In order to understand how thyroid abnormalities emerge over time in adults, we evaluated incidence of thyroid diseases in healthy subjects, after almost 6 years from a previous negative ultrasound. Methods: Anamnestic and physical data were collected. Ultrasound neck evaluation was performed by an experienced endocrinologist, recording detailed thyroid and nodules characteristics. Nodules were classified according to American Thyroid Association classification for prediction of cancer risk. Serum samples were collected for subsequent evaluations (TSH, free thyroid hormones, calcitonin, anti-thyroid antibodies). Anamnestic, clinical, sonographic, and serological characteristics were analyzed with logistic regression analysis for subjects with nodules vs. those without. Results: One hundred and eleven subjects were enrolled (43M, 68F). Half of them developed nodules, mainly smaller than 1 cm and without suspicious characteristics. Ninety-seven percent were euthyroid. Only 4% had serological diagnosis of thyroiditis. Incidence of thyroid diseases was higher in women, especially nulliparous. Comparing clinical characteristics of subjects with and without nodules, the only statistically significant difference concerned thyroid volume adjusted for body weight or surface (p < 0.05), but not residual volume excluding nodules. Multivariate logistic regression analysis showed that female gender, higher BMI-adjusted thyroid volume and residual thyroid volume excluding nodules, nulliparity, age, and fT3 increase the risk of developing nodules. Conclusions: These results demonstrate that adult thyroid tissue undergoes changes that are already detectable by US after almost 6 years. Half of the enrolled subjects developed de novo nodules or colloid cysts of poor clinical relevance.


2020 - Early diagnosis of medullary thyroid cancer in case of low serum calcitonin: Role of calcitonin measurement in fine-needle aspiration washout fluid [Abstract in Atti di Convegno]
Greco, C.; Madeo, B.; Rochira, V.; De Santis, M. C.; Brigante, G.
abstract

Background Screening serum calcitonin (sCT) measurement in patients with thyroid nod- ules is still debated. Moreover, sCt cutoffs for medullary thyroid carcino- ma (MTC) are not univocally defined. Also, sensitivity of cytology by fine needle aspiration biopsy (FNAb) has been demonstrated to detect approx- imately half of MTCs. Ct measurement in fine-needle aspiration washout fluid (Ct-FNAb) has high sensitivity and specificity and is helpful in case of non-diagnostic cytology1. Recently, a series oflow sCt MTC has been collected2. Aim The objectives of this retrospective observational study were to define Ct- FNAb levels in subjects with low sCt (below cutoffs diagnostic for MTC) and to evaluate their clinical, ultrasonographic (US), cytological and histo- logical characteristics.Methods We selected subjects with sCt above local normal ranges but below one of the diagnostic cutoff proposed for MTC (26 pg/ml in females and 68 pg/ ml in males), subjected to FNAb with Ct-FNAb measurement and then thy- roidectomized. Results Surprisingly, 50% (8/16) had MTC at histology, 19% cellular C hyperplasia (CCH) and only 31% neither MTC nor CCH. Ct-FNAb was significantly higher in MTC compared to both no MTC no CCH (2001 vs 25.32±55.72 pg/ml; P = 0.013) and to CCH (2001 vs 195.56 ± 286.09 pg/ml; P = 0.008). Even if below the diagnostic cutoff, also sCt was higher in MTC compared to no CCH and no MTC group (19±7 vs 9±4 pg/ml; P=0.019) but was not able to discriminate MTC from CCH. US failed to identify suspicious nod- ules, since MTC differed only for being solid and not haloed. At cytology nearly 90% of MTC lesions were non-diagnostic or, mainly, indeterminate. At histology, 7/8 were low risk micro MTCs. Conclusion HighCt-FNAb despite sCt only slightly elevated suggests: i) early detection of MTC before the onset of high secretion of Ct, ii) a peculiar variant of MTC, able to produce Ct but not to secrete it in bloodstream because of intracellular secretory pathway alteration, iii) possible methodological in- terferences in the dosage of sCt. In conclusion, this study demonstrates the importance of Ct-FNAb to discover early stages of MTC with sCt below diagnostic cutoffs.


2020 - Effect of a standard schema of self-monitoring blood glucose in patients with poorly controlled, non-insulin-treated type 2 diabetes mellitus: A controlled longitudinal study [Articolo su rivista]
Madeo, B.; Diazzi, C.; Granata, A. R. M.; Ghoch, M. E.; Greco, C.; Romano, S.; Scaltriti, S.; Rochira, V.
abstract

The effect of self-monitoring of blood glucose (SMBG) on glycemic control with regard to non-insulintreated Type 2 diabetes mellitus (NIT-Type 2 DM) is still a controversial topic. Against this backdrop, we sought to compare the effect of a continuous short-term SMBG schema with as-usual treatment, based on changes in oral antidiabetic treatment in patients with poorly controlled Type 2 DM. We reviewed 492 NIT-Type 2 DM record charts, selecting 27 patients, with poor glycemic control, who were thought to self-monitor their blood glucose levels (SMBG group). We then compared them with 27 patients treated with modifying drugs or diets to achieve and maintain the glycemic target (Control Group). Haemoglobin A1c (HbA1c) and fasting plasma glucose (FPG) were evaluated at baseline, after 3 and 6 months. HbA1c values decreased after 3 and 6 months in the SMBG group (P < 0.001 on both occasions) and in the control group (P < 0.05 and P < 0.01, respectively), but without a significant difference between the two groups when compared at the same time. The FPG progressively decreased in both groups, reaching a significant difference in the SMBG group after 3 months and in the control group after 6 months, and without a significant difference between the two groups. The SMBG schema used in our study could be adopted for target groups before proceeding to the next therapeutic enhancement drug step, representing a useful tool that can help diabetic patients in raising awareness of and treating their disease.


2020 - Effects of acute hCG stimulation on serum INSL3 and 25-OH vitamin D in Klinefelter syndrome. [Articolo su rivista]
Santi, D.; Ivell, R.; Anand-Ivell, R.; De Toni, L.; Fanelli, F.; Mezzullo, M.; Pelusi, C.; Pagotto, U.; Belli, S.; M: Granata, A. R.; Roli, L.; Rochira, V.; Trenti, T.; Ferlin, A.; Simoni, M.
abstract

Background: It has recently been suggested that the hypergonadotropic hypogonadism characterizing Klinefelter syndrome (KS) might not be due to a steroidogenic dysfunction per se, but mainly to an altered testosterone (T) secretion into the bloodstream. However, the Leydig cell functionality remains incompletely studied in KS, and new markers should be considered. Previous data indicated that chronic hCG stimulation influence the production of both Insulin-like peptide 3 (INSL3) and 25-hydroxy-vitamin D (25-VD) in eugonadal men. Aim of the study: To evaluate INSL3 and 25-VD serum levels, as markers of Leydig cell functionality, in association with sex steroids, after an acute hCG test in a group of KS patients and healthy volunteers. Methods: A retrospective analysis of a prospective, case-control, clinical trial was carried out. KS patients (n=11) and age-matched healthy controls(n=11) provided a basal blood sample (V0) immediately followed by a single intramuscular injection of hCG 5000 IU. Blood samples were taken in the following five days(V1-V5). Results: At baseline, INSL3 was lower in KS patients compared to controls (p=0.007). When adjusted for INSL3 levels, the production of steroids was similar between KS patients and controls. 25-VD was in the insufficient range both in KS patients and controls and was not different (p=0.064). Acute hCG stimulation increased neither INSL3 nor 25-VD in both KS patients and controls. In controls, an inverse correlation was detected between INSL3 levels and body mass index (p=0.020) and waist circumference (p=0.020). Conclusions: INSL3 secretion is independent from steroidogenesis and its production is mostly not influenced by acute hCG stimulation both in KS men and controls. INSL3 serum levels should be considered as a marker of Leydig cell differentiation and numbers rather than steroidogenesis. 25-VD serum levels are also not increased by a single acute hCG administration, which was not able to restore the normal concentrations of 25-VD.


2020 - Estrogens and Male Osteoporosis. [Capitolo/Saggio]
Rochira, V.; Madeo, B.
abstract

The chapter deals with the role of estrogens on the development of osteoporosis in men.


2020 - FSH for the Treatment of Male Infertility [Articolo su rivista]
Casarini, L.; Crépieux, P.; Reiter, E.; Lazzaretti, C.; Paradiso, E.; Rochira, V.; Brigante, G.; Santi, D.; Simoni, M.
abstract

Follicle-stimulating hormone (FSH) supports spermatogenesis acting via its receptor (FSHR), which activates trophic effects in gonadal Sertoli cells. These pathways are targeted by hormonal drugs used for clinical treatment of infertile men, mainly belonging to sub-groups defined as hypogonadotropic hypogonadism or idiopathic infertility. While, in the first case, fertility may be efficiently restored by specific treatments, such as pulsatile gonadotropin releasing hormone (GnRH) or choriogonadotropin (hCG) alone or in combination with FSH, less is known about the efficacy of FSH in supporting the treatment of male idiopathic infertility. This review focuses on the role of FSH in the clinical approach to male reproduction, addressing the state-of-the-art from the little data available and discussing the pharmacological evidence. New compounds, such as allosteric ligands, dually active, chimeric gonadotropins and immunoglobulins, may represent interesting avenues for future personalized, pharmacological approaches to male infertility.


2020 - Follicle-stimulating Hormone (FSH) Action on Spermatogenesis: A Focus on Physiological and Therapeutic Roles [Articolo su rivista]
Santi, Daniele; Crépieux, Pascale; Reiter, Eric; Spaggiari, Giorgia; Brigante, Giulia; Casarini, Livio; Rochira, Vincenzo; Simoni, Manuela
abstract

Background: Human reproduction is regulated by the combined action of the follicle-stimulating hormone (FSH) and the luteinizing hormone (LH) on the gonads. Although FSH is largely used in female reproduction, in particular in women attending assisted reproductive techniques to stimulate multi-follicular growth, its efficacy in men with idiopathic infertility is not clearly demonstrated. Indeed, whether FSH administration improves fertility in patients with hypogonadotropic hypogonadism, the therapeutic benefit in men presenting alterations in sperm production despite normal FSH serum levels is still unclear. In the present review, we evaluate the potential pharmacological benefits of FSH administration in clinical practice. Methods: This is a narrative review, describing the FSH physiological role in spermatogenesis and its potential therapeutic action in men. Results: The FSH role on male fertility is reviewed starting from the physiological control of spermatogenesis, throughout its mechanism of action in Sertoli cells, the genetic regulation of its action on spermatogenesis, until the therapeutic options available to improve sperm production. Conclusion: FSH administration in infertile men has potential benefits, although its action should be considered by evaluating its synergic action with testosterone, and well-controlled, powerful trials are required. Prospective studies and new compounds could be developed in the near future.


2020 - Health status is related to testosterone, estrone and body fat: moving to functional hypogonadism in adult men with HIV. [Articolo su rivista]
De Vincentis, S.; Decaroli, M. C.; Fanelli, F.; Diazzi, C.; Mezzullo, M.; Morini, F.; Bertani, D.; Milic, J.; Carli, F.; Cuomo, G.; Santi, D.; Tartaro, G.; Tagliavini, S.; De Santis, M. C.; Roli, L.; Trenti, T.; Pagotto, U.; Guaraldi, G.; Rochira, V.
abstract

Objective: Hypogonadism is common in HIV-infected men. The relationship between health status, sex steroids and body composition is poorly known in HIV. The aim was to investigate the association between health status (comorbidities/frailty), body composition, and gonadal function in young-to-middle-aged HIV-infected men. Design: Prospective, cross-sectional, observational study. Methods: HIV-infected men aged<50 years and ongoing Highly Active Antiretroviral Therapy were enrolled. Serum total testosterone (TT), estradiol (E2), estrone (E1) were measured by liquid chromatography-tandem mass spectrometry, LH and FSH by immunoassay. Free testosterone (cFT) was calculated by Vermeulen equation. Body composition was assessed by dual-energy X-ray absorptiometry and abdominal CT scan. Multimorbidity (MM) and frailty were defined as ≥3 comorbidities and by a 37-item index, respectively. Results: A total of 316 HIV-infected men aged 45.3±5.3 years were enrolled. Body fat parameters were inversely related to cFT and TT, and directly related to E1 and E2/T ratio. Patients with MM had lower cFT (p<0.0001) and TT (p=0.036), and higher E1 (p<0.0001) and E2/T ratio (p=0.002). Frailty was inversely related to cFT (R2=0.057, p<0.0001) and TT (R2=0.013, p=0.043), and directly related to E1 (R2=0.171, p<0.0001), E2 (R2=0.041, p=0.004) and E2/T ratio (R2=0.104, p<0.0001). Conclusions: Lower TT and cFT, higher E1, E2/T ratio and visceral fat were independently associated to poor health status and frailty, being possible hallmarks of unhealthy conditions in adult HIV-infected men. Overall, MM, frailty and body fat mass are strictly associated to each other and to sex steroids, concurring together to functional male hypogonadism in HIV.


2020 - How Much Vitamin D is Too Much? A Case Report and Review of the Literature [Articolo su rivista]
De Vincentis, S.; Russo, A.; Milazzo, M.; Lonardo, A.; De Santis, M. C.; Rochira, V.; Simoni, M.; Madeo, B.
abstract

Background: The beneficial effects of vitamin D, together with the high prevalence of vitamin D deficiency, have led to an expanding use of vitamin D analogues. While inappropriate consumption is a recognized cause of harm, definition of doses at which vitamin D becomes toxic remain elusive. Case presentation: A 56-year woman was admitted to our Hospital following a 3-week history of nausea, vomiting and muscle weakness. The patient had been assuming very high dose of cholecalciferol since 20 months (cumulative 78,000,000UI, mean daily 130,000UI), as indicated by a non-conventional protocol for multiple sclerosis. Before starting vitamin D integration, serum calcium and phosphorus levels were normal, while 25OH-vitamin D levels were very low (12.25 nmol/L). On admission, hypercalcemia (3.23 mmol/L) and acute kidney injury (eGFR 20 mL/min) were detected, associated with high concentrations of 25OH-vitamin D (920 nmol/L), confirming the suspicion of vitamin D intoxication. Vitamin D integration was stopped and, in a week, hypercalcemia normalized. It took about 6 months for renal function and 18 months for vitamin D values to go back to normal. Conclusions: This case confirms that vitamin D intoxication is possible albeit with a really high dose. The doses used in clinical practice are far lower than these and, therefore, intoxication rarely occurs even in those individuals whose baseline vitamin D serum levels have never been assessed. Repeated measurements of vitamin D are not necessary in patients under standard integrative therapy. However, patients and clinicians should be aware of the potential dangers of vitamin D overdose.


2020 - Importance of Sexual Function Assessment in Multidimensional Evaluation of AGHD Patients: Results from the MAGHD Study. [Abstract in Atti di Convegno]
Monzani, M. L.; Pederzoli, S.; Volpi, L.; Magnani, E.; Diazzi, C.; Rochira, V.
abstract

Background: Adult growth hormone deficiency (AGHD) is a debilitating clinical condition leading to decreased quality of life (QoL). The impact of reduced muscle mass, weakening and loss of vitality on QoL have been well characterized in AGHD. The impact of AGHD on sexual function, a recognized factor able to modify well-being, has never been investigated. Aim: To investigate the prevalence of sexual dysfunction in AGHD patients referring to a single endocrinological center and grouped according to their his- tory of r-hGH therapy.Methods: The Management of Adult Growth Hormone Deficiency (MAGHD) Study is a pro- spective, real-life trial aiming to improve management of AGHD patients through a smartphone app (MAGHD App)and a wearable device. The 83 AGHD enrolled patients (31 Females, 52 Males, mean age 56.27 + 14.68 years) were divided in 3 groups (G) according to r-hGH therapy: on long-term r-hGH therapy (G1, n=32), previously treated with r-hGH (G2, n=20), never treated (G3, n=31). Within the first phase of the study, a large database was created collecting clinical, biochemical and psychological data. In addition to QLS-H and QoL-AGHDA routinely used to as- sess QoL, IIEF-15 and FSFI were employed to evaluate sexual function in males and females, respectively. The nonparametric Kruskal-Wallis test was used for compar- ison among 3 groups.Results: Here only baseline data of the MAGHD Study are presented.According to IIEF-15 results, the prevalence of erectile dysfunction (ED) in male AGHD cohort was 60%. Erectile function (EF) score was signifi- cantly higher in G1 compared to both G2 and G3 (p < 0.05) with an ED prevalence of 35% in G1, 75% in G2 and 75% in G3. Even excluding patients with serum testosterone lower than 2 ng/ml and older than 65 years, ED prevalence did not change significantly in the 3 groups. Moreover, EF do- main was inversely and directly correlated to age (R20.130, β-0.360) and IGF1 levels (R20.156, β0.395), respectively. The prevalence of female sexual dysfunction according to FSFI was 89.3%. Even though desire, arousal, lubrication and overall scores were significantly higher (better results) in G1 compared to G2 and G3 (p < 0.05), no correlation resulted between FSFI domains and IGF1 levels. Instead an inverse correlation resulted between desire domain and age.Conclusions: This study, performed in a real-life clinical setting, demonstrates a high prevalence of sexual dysfunc- tion in AGHD patients and that r-hGH treatment seems to be associated to better sexual outcomes. These results suggest that the evaluation of sexual function should be in- tegrated in the global assessment of AGHD patients since sexual activity is a fundamental domain able to influence both well-being and QoL.


2020 - Importance of sexual function assessment in multidimensional evaluation of AGHD patients: Baseline results from the management of adult growth hormone deficiency (MAGHD) study. [Abstract in Atti di Convegno]
Monzani, M. L.; Pederzoli, S.; Volpi, L.; Magnani, E.; Diazzi, C.; Rochira, V.
abstract

Background Patients with adult growth hormone deficiency (AGHD) have impaired health-related quality of life (QoL). While the effects of reduced muscle mass and vitality-loss on QoL have been well characterized in AGHD, the impact of AGHD on sexual function, a recognized factor influencing well-being, has never been deepened. Aim To investigate the prevalence of sexual dysfunction in AGHD patients re- ferring to a single endocrinological center and grouped according to their history of r-hGH therapy. Methods The MAGHD Study aims to improve management of AGHD patients through a smartphone app (MAGHD-App) and a fit-watch. The 83 enrolled patients (31 Females, 52 Males, mean age 56.27 ± 14.68 years) were divided in 3 groups (G) according to r-hGH therapy: on long-term treatment (G1, n=32), previously treated (G2, n=20), never treated (G3, n=31). At the baseline visit, besidesclinical and biochemical data, a psychological assess- ment was performed. IIEF-15 (for males) and FSFI (for females) were em- ployed to evaluate sexual function in addition to QLS-H and QoL-AGHDA routinely used to assess QoL. The nonparametric Kruskal-Wallis test was used for comparison among 3 groups. Results According to IIEF-15 results, the prevalence of erectile dysfunction (ED) in AGHD males was 60%. Erectile function (EF) score was significantly high- er in G1 compared to G2 and G3 (P < 0.05) with an ED prevalence of 37.5% in G1, 75% in G2 and 75% in G3. Even excluding interfering factors (serum testosterone <2ng/ml and age ≥65 years), ED prevalence did not change significantly. Moreover, EF domain was inversely and directlycorrelated to age (R2 0.130, β–0.360) and IGF1 levels (R2 0.156, β 0.395), respectively. The prevalence of female sexual dysfunction according to FSFI was 89%. Even though desire, arousal, lubrication and overall scores were significant- ly higher (better results) in G1 compared to G2 and G3 (P<0.05), no cor- relation resulted between FSFI domains and IGF1 levels. Only an inverse correlation resulted between desire domain and age. Conclusions This real-life study documents a high prevalence of sexual dysfunction in AGHD patients, especially in untreated ones, and that r-hGH treatment seems to be associated to better sexual outcomes. These results suggest that the evaluation of sexual function should be integrated into global assessment of AGHD patients since sexual activity is able to influence both well-being and QoL.


2020 - Late-onset Hypogonadism: bone health. [Articolo su rivista]
Rochira, Vincenzo
abstract

Background: Bone health is underdiagnosed and undermanaged in men. Bone loss occurs in men with hypogonadism and in aging men. Thus, patients with a diagno- sis of late-onset hypogonadism (LOH) are at risk of osteoporosis and osteoporotic fractures. Objectives: To provide an update on research data and clinical implications regarding bone health in men with LOH by reviewing literature articles on this issue. Materials and Methods: A thorough search of listed publications in PubMed on bone health in older men with hypogonadism was performed, and other articles derived from these publications were further identified. Results: Late-onset Hypogonadism may be associated with reduced bone mineral density (BMD). In a pathophysiological perspective, the detrimental effects of testos- terone (T) deficiency on BMD are partly ascribed to relative estrogen deficiency and both serum T and serum estradiol (E2) need to be above 200 ng/dL and 20 pg/mL to prevent bone loss. The effects of exogenous T on BMD are controversial, but most of the studies confirm that testosterone replacement therapy (TRT) increases BMD and prevents further bone loss in men with hypogonadism. No data are available on TRT and the prevention of fractures. Discussion and Conclusion: In men with documented LOH, a specific clinical workup should be addressed to the diagnosis of osteoporosis in order to program subsequent follow-up and consider specific bone active therapy. TRT should be started according to guidelines of male hypogonadism while keeping in mind that it may also have posi- tive effects also on bone health in men with LOH.


2020 - Low Serum Testosterone (T) Is Associated with Poor Health Status in Young to Middle-Aged Human Immunodeficiency Virus (HIV)-Infected Men. [Abstract in Atti di Convegno]
De Vincentis, S.; Decaroli, M. C.; Diazzi, C.; Morini, F.; Bertani, D.; Fanelli, F.; Mezzullo, M.; Santi, D.; Tartaro, G.; Baraldi, E.; Tagliavini, S.; Pagotto, U.; Guaraldi, G.; Rochira, V.
abstract

BACKGROUND: The relationship between health status, defined by frailty and comorbidities, and serum T levels has been widely demonstrated in general population, while only one previous retrospective study has explored it in HIV-infected men1. AIM: To investigate the association between frailty and go- nadal status by assessing serum total T (TT) with Liquid Chromatography tandem Mass Spectrometry (LC-MS/MS) in a cohort of HIV-infected men. METHODS: Prospective, cross-sectional, observational study on HIV-infected men (age <50 years) with on- going Highly Active Antiretroviral Therapy. Serum TT was assessed by the gold standard ID-LC-MS/MS. Sex hormone-binding globulin (SHBG) was measured by chem- iluminescent immunoassay. Calculated free T (cFT) was obtained by Vermeulen equation. Multimorbidity was de- fined as at least 3 comorbid conditions, including: hyperten- sion, diabetes, cardiovascular disease, chronic obstructive pulmonary disease, chronic kidney disease, osteoporosis, chronic viral hepatitis and cancers. Frailty was calculated through the validated 37-item frailty index (FI)2. Patients with FI>0.21 were considered frail. Statistical ana- lysis: Mann-Whitney U test was used to compare contin- uous variables. Correlations were performed using linear regression models. RESULTS: 315 consecutive HIV-infected men were enrolled (mean age 45.3±5.3 years; average duration of HIV-infection 16.3±8.8 years). 128 patients (40.5%) were co- morbid and 207 (64.9%) were frail. Either cFT (p=0.001) or TT (p<0.001) were lower in comorbid patients than others. FT was inversely related to the number of comorbidities (p<0.001, R2=0.045). Accordingly, cFT (p=0.003) and TT (p<0.001) were significantly lower in frail patients.Frailty score was inversely correlated with cFT (p<0.001, R2=0.058), TT (p=0.041, R2=0.014) and SHBG (p=0.003, R2=0.029). However, after adjustment for age and duration of HIV-infection, cFT, TT and SHBG were excluded from the regression model. CONCLUSIONS: Low cFT and TT levels are associated with multimorbidity and poor health status in HIV infected men. The bidirectional nature of this relationship leads to the figuration of an intriguing vicious circle where T de- ficiency triggers the onset of comorbidities or, vice versa, poor health status induces hypogonadism. At the same time, notwithstanding the inverse relation between FT and frailty, it seems that other stronger predictive factors, and in particular the duration of infection, are involved in de- termining the health outcome in this clinical setting.


2020 - Phenotype of the adulthood. In: Klinefelter’s Syndrome. From a disabling condition to a variant of normalcy. [Capitolo/Saggio]
De Vincentis, S.; Rochira, V.
abstract

The chapter deals with the description ov various phenotypes of Klinefelter's Syndrome


2020 - Polygenic Susceptibility to Papillary Thyroid Cancer in Italian Subjects. [Abstract in Atti di Convegno]
Brigante, G.; Lazzaretti, C.; Paradiso, E.; Foersti, A.; Hemminki, K.; Elisei, R.; Romei, C.; Rochira, V.; Simoni, M.; Landi, S.; Casarini, L.
abstract

olygenic Susceptibility to Papillary Thyroid Cancer in Italian Subjects INTRODUCTION AND AIM. Thyroid cancer is the most common endocrine neoplasia, with an estimated age- standardized incidence rate of 6.7 per 100000 worldwide in 2018 [1]. This rate is rapidly increasing and papillary thy- roid carcinoma (PTC) is the main histotype. PTC suscepti- bility is the result of genetic predisposition, environmental factors and lifestyle. We studied the genetic combination that characterizes PTC affected subjects, differentiating them from healthy controls. METHODS AND RESULTS. We considered the genetic variants (SNPs) significantly associated with PTC on the PubMed database. 184 informative SNPs were selected, considering linkage disequilibrium. Then, SNPs data were extracted from the online 1000 Genomes database,comprising genome of 2504 unselected individuals col- lected worldwide. The combination of 184 SNPs associ- ated with PTC was used to group individuals in different risk-clusters according to their genetic structure, calcu- lated by Bayesian statistics, as previously performed for polycystic ovary syndrome [2]. Individuals were distrib- uted among 7 groups worldwide, indicating different de- gree of genetic predisposition to PTC. We then considered genetic data from about 1200 individuals (697 PTC versus 497 healthy controls) of Central/South Italian origin reg- istered in a GWAS, specific for PTC [3]. This first analysis was refined using the 33 SNPs reasonably most causa- tive of genetic clustering (26 with p<0.05 at trend test in GWAS and 7 with p<0.05 in the model of recessive inher- itance). At multivariate logistic regression analysis, PTC and healthy controls resulted genetically different (ODDS RATIO 188.6, 95%CI 64.35-552.8), revealing diverse pre- disposition to develop cancer. Afterwards, these results have been confirmed in an independent cohort of Italian subjects (234 PTC and 100 controls). Then, the genetic structure of each subject was indicated as a percentage of affinity to each risk-cluster and re-analyzed together with other risk factors: sex, body-mass index, area of origin and familiarity (quantified in a growing score as the degree of kinship increases). These data were analyzed together by principal component analysis and clustering of the two groups was even more pronounced. The most contributive factors to the diversity between PTC and healthy controls were genetics and familiarity. CONCLUSION. We demonstrated that PTC affected subjects are genetically different from healthy controls, and that the difference is identifiable in a peculiar combi- nation of genetic variants.


2020 - Prospects for FSH Treatment of Male Infertility [Articolo su rivista]
Simoni, Manuela; Brigante, Giulia; Rochira, Vincenzo; Santi, Daniele; Casarini, Livio
abstract

Context: Despite the new opportunities provided by assisted reproductive technology (ART), male infertility treatment is far from being optimized. One possibility, based on pathophysiological evidence, is to stimulate spermatogenesis with gonadotropins. Evidence Acquisition: We conducted a comprehensive systematic PubMed literature review, up to January 2020, of studies evaluating the genetic basis of follicle-stimulating hormone (FSH) action, the role of FSH in spermatogenesis, and the effects of its administration in male infertility. Manuscripts evaluating the role of genetic polymorphisms and FSH administration in women undergoing ART were considered whenever relevant. Evidence Synthesis: FSH treatment has been successfully used in hypogonadotropic hypogonadism, but with questionable results in idiopathic male infertility. A limitation of this approach is that treatment plans for male infertility have been borrowed from hypogonadism, without daring to overstimulate, as is done in women undergoing ART. FSH effectiveness depends not only on its serum levels, but also on individual genetic variants able to determine hormonal levels, activity, and receptor response. Single-nucleotide polymorphisms in the follicle- stimulating hormone subunit beta (FSHB) and follicle-stimulating hormone receptor (FSHR) genes have been described, with some of them affecting testicular volume and sperm output. The FSHR p.N680S and the FSHB –211G>T variants could be genetic markers to predict FSH response. Conclusions: FSH may be helpful to increase sperm production in infertile men, even if the evidence to recommend the use of FSH in this setting is weak. Placebo-controlled clinical trials, considering the FSHB-FSHR haplotype, are needed to define the most effective dosage, the best treatment length, and the criteria to select candidate responder patients.


2020 - Testosterone (T) is poorly related to sexual desire and Erectile Dysfunction (ED) in Young/Middle Aged Human immunodeficiency virus (HIV)-Infected Men [Abstract in Atti di Convegno]
De Vincentis, S.; Decaroli, M. C.; Diazzi, C; Morini, F.; Bertani, D.; Fanelli, F.; Mezzullo, M.; Santi, D.; Tartaro, G.; Baraldi, E.; Tagliavini, S.; Pagotto, U.; Guaraldi, G.; Rochira, V.
abstract

Background ED is highly prevalent in HIV-infected men. T leads sexual behavior in men, but preliminary data suggests that ED is poorly related to serum T in HIV- infected men. Aim To explore the relationship between sexual function and gonadal function in young/middle-aged HIV-infected men. Methodology Prospective, cross-sectional, observational study on HIV-infected men (age <50 years). Serum TT was assessed by the gold standard LC-MS/MS. Sex hormone-binding globulin (SHBG) was measured by chemiluminescent im- munoassay and calculated free T (cFT) was obtained by Vermeulen equa- tion. Biochemical hypogonadism was defined as TT levels below 320ng/ dl and/or cFT levels below 64pg/ml. The validated International Index of Erectile Function (IIEF)-15 questionnaire was used to identify the presence of ED (score <25) and its degree. IIEF-5 was performed to check if it is reliable as IIEF-15 in this setting. Statistical analysis Continuous and categorical variables were compared using ANOVA univari- ate and Chi-Square test. Correlations were performed using linear regression models.Results 315 consecutive HIV-infected men were enrolled (mean age 45.3 ± 5.3 years; mean duration of HIV-infection 16.3 ± 8.8 years). A total of 187 patients (59.7%) had ED at IIEF-15; 59 patients (31.5%) presented a severe form of ED (score <10). Considering gonadal function, 35 patients (11.1%) had T deficiency. Scores of EF (P=0.039) and sexual desire (P=0.015) domains were higher in hypogonadal than eugonadal men. Accordingly, the prev- alence of ED raised to 71.4% among hypogonadal men. By considering ED severity, patients with severe ED showed a longer duration of infection (P = 0.039) and lower cFT levels (P = 0.041) than patients with mild ED. No difference was found for age (P = 0.224) and TT levels (P = 0.110). IIEF-15 score was inversely related to duration of infection (R2 = 0.030, beta = –0.173, P = 0.002) and patients’ age (R2 = 0.020, beta = –0.140, P = 0.013).No signif- icant correlation was found between IIEF-15 score and total T (P = 0.236) and cFT (P = 0.126). The erectile function domain at IIEF-15 directly cor- related with IIEF-5 score (R2 = 0.545, beta = 0.778, P < 0.001). Conclusions In our HIV-cohort of young/middle-aged men, the prevalence of ED and T deficiency were high being of 60% and 11%, respectively. Serum TT and cFT did not correlate with sexual function parameters, even though sexual desire was lower in men with hypogonadism. ED seems to be better predict- ed by other factors, such as the duration of infection in this clinical setting, rather than the gonadal status. Furthermore, IIEF-5 seems to be as reliable as IIEF-15 for ED diagnosis in HIV-infected men


2020 - The added value of operator’s judgement in thyroid nodule ultrasound classification arising from histologically based comparison of different risk stratification systems. [Articolo su rivista]
Madeo, B.; Brigante, G.; Ansaloni, A.; Taliani, E.; Kaleci, S.; Monzani, M. L.; Simoni, M.; Rochira, V.
abstract

Objective: Several ultrasound classifications for thyroid nodules were proposed but their accuracy is still debated, since mainly estimated on cytology and not on histology. The aim of this study was to test the diagnostic accuracy and the inter-classification agreement of AACE/ACE-AME, American Thyroid Association (ATA), British Thyroid Association (BTA), and Modena Ultrasound Thyroid Classification (MUT) that stratifies malignancy risk considering also the clinician subjective impression. Methods: A prospective study collecting thyroid nodule features at ultrasound and histological diagnosis was conducted. Ultrasound features were collected following a preformed checklist in candidates for surgery because of indeterminate, suspicious, or malignant cytology. All the nodules, besides the cytologically suspicious one, were blinded analyzed. MUT score was applied prospectively, and the others retrospectively. Sensitivity, specificity, diagnostic cut-off value, and accuracy of each classification were calculated. The overall agreement between classifications was tested by Bland-Altman, and agreement between single nodule analysis by different classifications by Weighted Cohen's Kappa. Results: In classifying a total of 457 nodules, MUT has the highest accuracy (AUC 0.808) and specificity (89%), followed by ATA and BTA, and finally by AACE/ACE-AME. ATA, BTA, and MUT are highly interchangeable. Considering agreement between single nodule analyses, ATA and BTA had the best (κ = 0.723); AACE/ACE-AME showed slight agreement with BTA (κ = 0.177) and MUT (κ = 0.183), and fair agreement with ATA (κ = 0.282); MUT had fair agreement with both ATA (κ = 0.291) and BTA (κ = 0.271). Conclusion: Classifications have an acceptable overall diagnostic accuracy, improved using a less rigid system that takes into consideration operator subjective impression.


2020 - The calcium-to-phosphorous (Ca/P) ratio in the diagnosis of primary hyperparathyroidism and hypoparathyroidism: a multicentric study. [Articolo su rivista]
Madeo, B.; De Vincentis, S.; Repaci, A.; Altieri, P.; Vicennati, V.; Kara, E.; Vescini, F.; Amadori, P.; Balestrieri, A.; Pagotto, U.; Simoni, M.; Rochira, V.
abstract

Purpose The diagnosis of primary hyperparathyroidism (PHPT) and chronic hypoparathyroidism (HypoPT) is still challenging, especially in patients asymptomatic or with non-classical phenotypes and for physicians not skilled in calcium-phosphorous (Ca–P) disorders. The serum calcium/phosphorous (Ca/P) ratio has been proposed as accurate index to identify PHPT, while it has never been tested in HypoPT. The aim of this study is to investigate the diagnostic power of the serum Ca/P ratio in the diagnosis of primary parathyroid dysfunctions (both PHPT and HypoPT) in a large series of data. Methods A multicentric, retrospective, cross-sectional study (ClinicalTrials.gov: NCT03747029) was carried out including 432 PHPT patients and 217 HypoPT patients compared with 389 controls. Serum Ca, P, creatinine, parathyroid hormone and 25OH-vitamin D were collected. Serum Ca and P were expressed in mmol/L. Ca/P diagnostic performance was evaluated by receiver operating characteristic (ROC) curve, sensitivity, specificity and accuracy. Results The Ca/P ratio was significantly higher in PHPT and lower in HypoPT patients than controls (p < 0.0001). At ROC curve analysis, the Ca/P ratio above 2.55 was defined to identify PHPT patients (sensitivity 85.7%, specificity 85.3%) and below 1.78 to identify HypoPT patients (sensitivity 88.2%, specificity 87.9%). Conclusions The Ca/P ratio is a highly accurate index to identify PHPT when Ca/P is above 2.55 and HypoPT when it is below 1.78. These results demonstrate the reliability of this index to rule in/out primary parathyroid dysfunctions and remark the importance of measuring serum P in clinical practice.


2020 - The hypothalamic-pituitary-adrenal and -thyroid axes activation lasting one year after an earthquake swarm: results from a big data analysis [Articolo su rivista]
Spaggiari, G.; Setti, M.; Tagliavini, S.; Roli, L.; De Santis, M. C.; Trenti, T.; Rochira, V.; Santi, D.
abstract

Purpose: To cope physical and/or psychological threats, the human body activates multiple processes, mediated by a close interconnection among brain, endocrine and inflammatory systems. The aim of the study was to assess the hypothalamic-pituitary-adrenal (HPA) and hypothalamic-pituitary-thyroid (HPT) axes involvement after an acute stressful event (Emilia Romagna earthquake swarm) with a big data approach. Methods: A retrospective, observational trial was performed, collecting all biochemical examinations regarding HPA and HPT axes performed in the same laboratory the year before and the year after the earthquake swarm (20-29 May 2012). Results: Comparing 2576 pre-earthquake to 3021 post-earthquake measurements, a cortisol serum level increase was observed (p < 0.001). Similar increase was evident for urinary free cortisol (p = 0.016), but not for adrenocorticotropic hormone (p = 0.222). The biochemical hypercortisolism incidence increased from 7.6 to 10.3% after earthquakes (p = 0.001). Comparing 68,456 pre-earthquake to 116,521 post-earthquake measurements, a reduction in thyroid-stimulating hormone (TSH) levels was evident (p = 0.018), together with an increase in free triiodothyronine and free thyroxine levels (p < 0.001 and p < 0.001). Moreover, a significant increase in altered TSH after earthquakes was registered considering the epicenter-nearest measurements (p < 0.001). No clinically relevant alterations were observed considering thyroid-specific autoantibodies. Conclusion: A long-term HPA axis activation in the inhabitants of the earthquake-affected areas was highlighted for the first time. Moreover, an increased incidence of biochemical hypercortisolism emerged after earthquakes. We confirmed a recruitment of HPT axis after stressful events, together with increased incidence of altered TSH in the. Our big data study allowed to increase knowledge about the connection between external stressors and endocrine regulation.


2019 - Abacavir, nevirapine, and ritonavir modulate intracellular calcium levels without affecting GHRH-mediated growth hormone secretion in somatotropic cells in vitro [Articolo su rivista]
Brigante, G; Riccetti, L; Lazzaretti, C; Rofrano, L; Sperduti, S; Potì, F; Diazzi, C; Prodam, F; Guaraldi, G; Lania, Ag; Rochira, V; Casarini, L
abstract

Growth Hormone (GH) deficiency is frequent in HIV-infected patients treated with antiretroviral therapy. We treated GH3 cells with antiretrovirals (nevirapine, ritonavir or abacavir sulfate; 100 pM-1 mM range), after transfection with human growth hormone releasing hormone (GHRH) receptor cDNA. Cells viability, intracellular cAMP, phosphorylation of CREB and calcium increase, GH production and secretion were evaluated both in basal condition and after GHRH, using MTT, bioluminescence resonance energy transfer, western blotting and ELISA. Antiretroviral treatment did not affect GHRH 50% effective dose (EC50) calculated for 30-min intracellular cAMP increase (Mann-Whitney's U test; p ≥ 0.05; n = 4) nor 15-min CREB phosphorylation. The kinetics of GHRH-mediated, rapid intracellular calcium increase was perturbed by pre-incubation with drugs, while GHRH failed to induce the ion increase in ritonavir pre-treated cells (ANOVA; p < 0.05; n = 3). Antiretrovirals did not impact 24-h intracellular and extracellular GH levels (ANOVA; p ≥ 0.05; n = 3). We demonstrated the association between antiretrovirals and intracellular calcium increase, without consequences on somatotrope cells viability and GH synthesis. Overall, these results suggest that antiretrovirals may not directly impact on GH axis in HIV-infected patients.


2019 - Acromegaly (ACROM) in Emilia Romagna (ER): results from the ACROMER, a multicentric survey over 45 years [Abstract in Atti di Convegno]
Rochira, V.; Pagotto, U.; Zatelli, M. C.; Ambrosio, M. R.; Balestrieri, A.; Bondi, F.; Bonadonna, R.; Bondanelli, M.; Cataldo, S.; Ceresini, G.; De Giovanni, R.; Frasoldati, A.; Guaraldi, F.; Lopreiato, V.; Maestri, E.; Marina, M.; Mazzatenta, D.; Magnani, E.; Monzani, M. L.; Moretti, V.; Nasi, M. T.; Nizzoli, M.; Pancotti, D.; Riganti, F.; Ribichini, D.; Santini, C.; Soriani, A.; Tartaglia, A.; Vezzani, S.; Zini, M.; Faustini Fustini, M.
abstract


2019 - Calcium to Phosphorous (Ca/P) Ratio as an accurate index for the diagnosis of primary hyperparathyroidism (PHPT) and hypoparathyroidism (HYPOPT) [Abstract in Atti di Convegno]
De Vincentis, S.; Repaci, A.; Altieri, P.; Kara, E.; Amadori, P.; Balestrieri, A.; Rochira, V.; Madeo, B.
abstract


2019 - Calcium to Phosphorus (Ca/P) ratio as an accurate index for the diagnosis of primary hyperparathyroidism (PHPT) and hypoparathyroidism (HypoPT) [Abstract in Atti di Convegno]
De Vincentis, S.; Repaci, A.; Altieri, P.; Kara, E.; Vescini, F.; i Amadori, P.; Balestrieri, A.; Rochira, V.; Madeo, B.
abstract


2019 - Characteristics, geographical distribution and age at diagnosis of patients with Klinefelter Syndrome in Italy: a cohort study from the Klinefelter Italian Group (KING) [Abstract in Atti di Convegno]
Pasquali, D.; Garolla, A.; Accardo, G.; Chiodini, P.; Simeon, V.; Ferlin, A.; Maggi, M.; Vignozzi, L.; Corona, G.; Lanfranco, F.; Rochira, V.; Calogero, A.; Giagulli, V.; Bonomi, M.; Pivonello, R.; Balercia, G.; Pizzocaro, A.; Salacone, P.; Aversa, A.
abstract


2019 - Characteristics, geographical distribution and age at diagnosis of patients with Klinefelter syndrome in Italy: a cohort study from the Klinefelter Italian Group (KING) [Abstract in Atti di Convegno]
Pasquali, D.; Garolla, A.; Accardo, G.; di Fraia, R.; Simeon, V.; Ferlin, A.; Maggi, M.; Foresta, C.; Vignozzi, L.; Corona, G.; Lanfranco, F.; Rochira, V.; E Calogero, A.; Giagulli, V. A.; Bonomi, M.; Pivonello, R.; Balercia, G.; Pizzocaro, A.; Salacone, P.; Aversa, A.; Barbonetti., A.
abstract


2019 - Classification of thyroid nodules by ultrasound in clinical practice: the added value of the judgement of the skilled endocrinologist [Abstract in Atti di Convegno]
Madeo, B.; Brigante, G.; Ansaloni, A.; Taliani, E.; Kaleci, S.; Monzani, M. L.; Simoni, M.; Rochira, V.
abstract


2019 - Classification of thyroid nodules by ultrasound in clinical practice: the added value of the judgment of the skilled endocrinologist [Abstract in Rivista]
Madeo, B.; Brigante, G.; Ansaloni, A.; Taliani, E.; Kaleci, S.; Monzani, M. L.; Simoni, M.; Rochira, V.
abstract


2019 - Effectiveness of androgens administration on body composition in HIV-infected men: a meta-analysis [Abstract in Atti di Convegno]
Santi, D.; Spaggiari, G.; Corona, G.; Rochira, V.
abstract


2019 - Evolution Strategies in Transaxillary Robotic Thyroidectomy: Considerations on the First 449 Cases Performed. [Articolo su rivista]
Piccoli, Martina; Mullineris, B.; Gozzo, Davide; Colli, Giovanni; Pecchini, F.; Nigro, Caterina; Rochira, Vincenzo
abstract

BACKGROUND: In the past 20 years, the fast spread of new surgical technologies has reached an important peak with the advent of the robotic surgery. Many studies have been run about a cosmetic desire to avoid neck scars after thyroid surgery and this has led to the development of remote access robotic thyroidectomy (RT). Among the various RT approaches, unilateral transaxillary access is one of the most widely used, reporting excellent results in terms of feasibility and patient's compliance. The mini-invasive technique demonstrated many potential shortcoming overcomes with the robotic approach. At our institution a team of 3 skilled endocrine surgeons with experience in laparoscopic and robotic procedures performed RT. Our aim is to report our 8-year single-centre robot-assisted thyroidectomy experience, by applying a gasless unilateral transaxillary approach with the so-called hybrid technique, and to demonstrate its safety and feasibility. METHODS: In the period between September 2010 and June 2018 at our institution, a total of 472 patients underwent thyroid and parathyroid transaxillary surgery. The hybrid technique was applied for all the robotic procedures. A total of 412 procedures were performed with the use of external "Modena Retractor" (CEATEC® Medizintechnik) and with 3 surgeons. According to international guidelines, our indications for robotic surgery were benign lesions with a diameter <5 cm, Graves' disease, well-differentiated thyroid cancers, and parathyroid adenomas. RESULTS: In this series, a total of 449 cases were registered. General data of patients were analyzed: gender, age, body mass index, tumor size, preoperative fine-needle aspiration examination, definitive histological examination, operative time, and postoperative complications. CONCLUSIONS: This study confirms the application of robotic approach in thyroid surgery as a feasible technique in terms of safety and complications risk. The hybrid technique, together with a dedicated surgical team, can lead to obtaining the same outcomes of traditional anterior cervicotomic surgery, adding a scarless thyroidectomy.


2019 - Expression and clinicopathological role of miR146a in thyroid follicular carcinoma. [Articolo su rivista]
Pignatti, E.; Vighi, E.; Magnani, E.; Kara, E.; Roncati, L.; Maiorana, A.; Santi, D.; Madeo, B.; Cioni, K.; Carani, C.; Rochira, V.; Simoni, M.; Brigante, Giulia
abstract

PURPOSE: Dysregulation of microRNA expression has been involved in the development and progression of follicular thyroid carcinoma (FTC). The aim of this work was to study the expression of miRNA146a in FTC and the association with clinicopathological features of the disease. METHODS: Thirty-eight patients affected by FTC were included in the study. Twenty patients carrying follicular thyroid adenoma (FA) were also enroled as the benign counterpart of FTC. Total RNA including miRNA146a was extracted from formalin-fixed paraffin-embedded (FFPE) pairs of affected/unaffected tissue and its expression was assessed by real-time PCR. Two selected target genes, TRAF6 (tumour necrosis factor receptor-associated factor 6) and IRAK1 (Il-1 receptor-associated kinase 1/2), were also analysed. RESULTS: miR146a expression in FTC tissue was overall not downregulated in malignant versus unaffected tissue, but its expression was inversely correlated with clinicopathological features of FTCs at diagnosis. A decreased expression of miR146a became apparent in FTC thyroid tissue of widely compared to minimally invasive tumours. However, miR146a expression differences between contralateral unaffected tissue (extra-FTC) and FTC were not observed regardless of clinicopathological features. IRAK1, a known target for miR146a, was upregulated in FTC and the increase was mainly appreciable in Hurtle FTC variant. Unexpectedly, miR146a did not correlate with TRAF6 showing an inverse trend compared to IRAK1 although both genes regulate the activity of nuclear factor- kB (NF-kB). CONCLUSION: The results of this study indicate that downregulation of miR146a, inversely correlated with clinicopathological features of FTCs at diagnosis and suggest a possible involvement of miR146a in FTC development. IRAK1 over-expression in FTC may be related to tumour development/progression. In vitro experiments are needed to support this hypothesis.


2019 - Gonadal function in human immunodeficiency virus (HIV)-infected men: comparison between isotopic dilution-liquid chromatography-tandem mass spectrometry (ID-LC-MS/MS) and chemiluminescent immunoassay (CI) [Abstract in Atti di Convegno]
Decaroli, M. C.; De Vincentis, S.; Fanelli, F.; Mezzullo, M.; Diazzi, C.; Morini, F.; Bertani, D.; Santi, D.; Baraldi, E.; Tagliavini, S.; Roli, L.; Trenti, T.; Pagotto, U.; Guaraldi, G.; Rochira, V.
abstract


2019 - Importanza della valutazione della funzione sessuale nei pazienti adulti con deficit di GH: risultati preliminari dello studio Management of Adult Growth Hormone Deficiency (MAGHD) [Abstract in Atti di Convegno]
Monzani, M. L.; Pederzoli, S.; Volpi, L.; Magnani, E.; Diazzi, C.; Rochira, V.
abstract


2019 - Prevalence of thyroid disfunctions in a large cohort of Human Immunodeficiency Virus (HIV)-Infected Patients [Abstract in Atti di Convegno]
Tartaro, G.; De Vincentis, S.; Brigante, G.; Diazzi, C.; Malagoli, A.; Guaraldi, G.; Rochira, V.
abstract


2019 - Relative hyperestrogenism in Klinefelter Syndrome: results from a meta-analysis. [Articolo su rivista]
Santi, D.; De Vincentis, S.; Scaltriti, S.; Rochira, Vincenzo
abstract

OBJECTIVE: Klinefelter Syndrome (KS) is classically described as characterized by hyperestrogenism, although solid evidence is lacking. This study aims to test the hypothesis that men with KS have higher serum estradiol than normal controls. DESIGN: Meta-analysis of all studies extracted by MEDLINE from 1942 to 31 January 2018. All studies reporting serum estradiol measurement were considered, among them only case-control studies were included in the meta-analysis. METHODS: Meta-analysis was conducted according to the PRISMA statement using RevMan. RESULTS: Out of 4120 articles, 23 case-control studies, 14 case series, and 19 case reports reported data on serum estradiol. A total of 707 KS and 1019 controls were included in the meta-analysis. Serum estradiol was slightly, but significantly higher in KS than controls (mean difference 4.25 pg/mL; CI: 0.41, 8.10 pg/mL; p = 0.030). This difference was lost considering only studies using estradiol assays with good accuracy (5.48 pg/mL, CI: -2.11, 13.07 pg/mL; p = 0.160). Serum testosterone and estradiol/testosterone ratio were significantly lower and higher in KS than controls, respectively. Data from KS case series and case reports confirmed that serum estradiol is within the normal ranges. CONCLUSIONS: Serum estradiol is not increased in KS although slightly higher than controls. However, the meta-analysis that included only studies using a serum estradiol assay with good accuracy showed no difference in serum estradiol between KS and controls. The traditional belief that KS is associated with elevated serum estradiol should be reconsidered. This meta-analysis shows that men with KS have relative hyperestrogenism (increased estradiol/testosterone ratio) compared to controls.


2019 - Reliability of calcium-phosphorus (Ca/P) ratio as a new, accurate and inexpensive tool in the diagnosis of some Ca-P disorders. [Articolo su rivista]
Madeo, B.; De Vincentis, S.; Kara, E.; Vescini, F.; Trenti, T.; Guaraldi, G.; Rochira, Vincenzo
abstract

PURPOSE: The serum calcium/phosphorus (Ca/P) ratio is an accurate tool to differentiate patients with primary hyperparathyroidism (PHPT) from healthy subjects. However, other disorders of the Ca-P metabolism might impair the Ca/P ratio, such as hypophosphatemia (HypoP) not PHPT related. The aim of this study is to examine the diagnostic value of Ca/P ratio in the diagnosis of PHPT and HypoP not PHPT related. METHODS: Single-center, retrospective, case-control study, including 150 patients with PHPT and 306 patients with HypoP, compared with 150 controls. HypoP patients were enrolled among HIV-infected patients by selecting those with Fanconi-like syndrome due to antiretroviral treatment. Parameters which were measured were serum Ca, P, parathyroid hormone (PTH), 25-OH vitamin D, albumin and creatinine). RESULTS: The Ca/P ratio was significantly higher in PHPT and HypoP patients, compared to controls (p &lt; 0.0001). At receiver operator characteristic (ROC) curve analysis, the cut-off of 3.56 (2.75 SI) for Ca/P ratio was able to identify patients with PHPT and HypoP (sensitivity 95%; specificity 93%). Among patients with Ca/P ratio above 3.56, the thresholds of 10.3 mg/dL (2.6 mmol/L) for serum Ca (sensitivity 93%; specificity 98%) and 80.5 pg/mL for PTH (sensitivity 91%; specificity 91%) were defined for the specific diagnosis of PHPT. CONCLUSIONS: The Ca/P ratio above 3.56 (2.75 SI) is a highly accurate tool to identify PHPT and HypoP not PHPT-related patients. Thanks to its simplicity, this index can be proposed as a screening and first-line examination in the diagnostic work-up when a disorder of Ca-P metabolism is suspected or should be ruled out.


2019 - Serum Sodium Is Inversely Related to Frailty and Bone Mineral Density (BMD) in Human Immunodeficiency Virus (HIV)-Infected Patients [Abstract in Atti di Convegno]
De Vincentis, S.; Decaroli, M. C.; Diazzi, C.; Santi, D.; Carli, F.; Zona, S.; Guaraldi, G.; Rochira, V.
abstract


2019 - Thyroid function in Klinefelter syndrome: a multicentre study from KING group [Articolo su rivista]
Balercia, G.; Bonomi, M.; Giagulli, V. A.; Lanfranco, F.; Rochira, V.; Giambersio, A.; Accardo, G.; Esposito, D.; Allasia, S.; Cangiano, B.; De Vincentis, S.; Condorelli, R. A.; Calogero, A.; Pasquali, D.; Aversa, A.; Balercia, G.; Calogero, A.; Corona, G.; Giorgino, F.; Fabbri, A.; Ferlin, A.; Ferrante, E.; Francavilla, F.; Giagulli, V.; Jannini, E.; Lanfranco, F.; Maggi, M.; Pasquali, D.; Pivonello, R.; Pizzocaro, A.; Radicioni, A.; Rochira, V.; Vignozzi, L.; Barchi, M.; Condorelli, R. A.; Cordeschi, G.; D'Andrea, S.; Mambro, A. D.; Foresta, C.; Francavilla, S.; Garolla, A.; Giovannini, L.; Granata, A. R. M.; La Vignera, S.; Motta, G.; Negri, L.; Pelliccione, F.; Persani, L.; Salzano, C.; Santi, D.; Selice, R.; Simoni, M.; Tatone, C.; Tirabassi, G.; Tresoldi, A. S.; Vicari, E.
abstract

PURPOSE:The prevalence and the etiopathogenesis of thyroid dysfunctions in Klinefelter syndrome (KS) are still unclear. The primary aim of this study was to evaluate the pathogenetic role of hypogonadism in the thyroid disorders described in KS, with the scope to distinguish between patients with KS and hypogonadism due to other causes (Kallmann syndrome, idiopathic hypogonadotropic hypogonadism, iatrogenic hypogonadism and acquired hypogonadotropic hypogonadism after surgical removal of pituitary adenomas) called non-KS. Therefore, we evaluated thyroid function in KS and in non-KS hypogonadal patients. METHODS: This is a case-control multicentre study from KING group: Endocrinology clinics in university-affiliated medical centres. One hundred and seventy four KS, and sixty-two non-KS hypogonadal men were enrolled. The primary outcome was the prevalence of thyroid diseases in KS and in non-KS. Changes in hormonal parameters were evaluated. Exclusion criterion was secondary hypothyroidism. Analyses were performed using Student's t test. Mann-Whitney test and Chi-square test. RESULTS: FT4 was significantly lower in KS vs non-KS. KS and non-KS presented similar TSH and testosterone levels. Hashimoto's thyroiditis (HT) was diagnosed in 7% of KS. Five KS developed hypothyroidism. The ratio FT3/FT4 was similar in both groups. TSH index was 1.9 in KS and 2.3 in non-KS. Adjustment for differences in age, sample size and concomitant disease in multivariate models did not alter the results. CONCLUSIONS: We demonstrated in KS no etiopathogenic link to hypogonadism or change in the set point of thyrotrophic control in the altered FT4 production. The prevalence of HT in KS was similar to normal male population, showing absence of increased risk of HT associated with the XXY karyotype.


2019 - Trunk fat increase is prevented both in patients undergoing long- lasting continuous r-hGH therapy and in those who discontinued r-hGH compared to untreated patients: results from baseline data of the MAGHD study [Abstract in Atti di Convegno]
Monzani, M. L.; Magnani, E.; Diazzi, C.; Pederzoli, S.; Volpi, L.; Rochira, V.
abstract


2019 - Trunk fat increase is prevented both in patients undergoing long-lasting continuous r-hGH therapy and in those who discontinued r-hGH compared to untreated patients: results from baseline data of the MAGHD study [Abstract in Atti di Convegno]
Monzani, M. L.; Magnani, E.; Diazzi, C.; Pederzoli, S.; Volpi, L.; Rochira, V.
abstract


2019 - Ultrasound Changes of Healthy Thyroides over Six Years in Adults [Abstract in Atti di Convegno]
Brigante, G.; Monzani, M. L.; Locaso, M.; Gnarini, V. L.; Graziadei, L.; Kaleci, S.; De Santis, M. C.; Tagliavini, S.; Simoni, M.; Rochira, V.; Madeo, B.
abstract


2019 - Ultrasound changes of healthy thyroides over six years in adults [Abstract in Atti di Convegno]
Brigante, G.; Monzani, M. L.; Locaso, M.; Gnarini, V. L.; Graziadei, L.; Kaleci, S.; De Santis, M. C.; Tagliavini, S.; Simoni, M.; Rochira, V.; Madeo, B.
abstract


2018 - A comparison of pituitary function in primary and secondary empty sella: preliminary data [Abstract in Rivista]
Magnani, E.; Decaroli, M. C.; Leoni, L.; Diazzi, C.; Rochira, V.
abstract

Background Empty sella (ES), the herniation of the subarachnoid space within sella associated with a variable flattening of the pituitary gland, is classified as primary (PES) or secondary (SES) on the basis of etiological factors. Aim To assess the differences between PES and SES in terms of pituitary function. Methods Clinical, radiological and hormonal data were retrospectively extrapolated from the records of 85 patients with a diagnosis of ES made between 1990 and 2016, attending to the Pituitary Unity of Azienda Ospedaliero-Universitaria of Modena, Italy. The pituitary function was assessed by basal hormonal measurements and dynamic tests in an appropriate clinical context. Chi square was used for comparison of categorical variables. Results Fifty-nine patients with PES (male/female ratio:1/2) and 26 with SES (male/female ratio:1.4/1) were considered. The mean age at diagnosis was 54G17 years in PES and 45G15 years in SES. Among PES 54% of patients had a normal pituitary function and 64% didn’t take replacement treatment, while in SES the percentages decreased to 28% and 35% respectively (Chi-squareZ16.8, P!0.0001). Accordingly, the overall number of pituitary deficits was higher in SES than in PES and even each single pituitary deficit occurred more frequently in SES (P!0.05). Mild hyperprolactinemia was present in 24% of PES and 22% of SES. A variable degree of hypopituitarism was found in 36% of PES and 58% of SES. Hypogonadism and growth hormone deficiency were the prevalent deficits among PES (61%) and SES (80%) respectively. The radiological degree of ES (partial vs total) didn’t influence the pituitary function. Discussion Our preliminary results confirm a higher prevalence of endocrine alterations in SES compared to PES but, in contrast with previous reports in literature, hypogonadism is the most frequent alteration in our PES patients. These data suggest that SES requires a more accurate endocrine screening and follow-up and, if confirmed by prospective studies, may open new insights on the management of ES.


2018 - Analysis of characteristics and outcomes by growth hormone treatment duration in adult patients in the Italian cohort of the Hypopituitary Control and Complications Study (HypoCCS) [Articolo su rivista]
Rochira, V.; Mossetto, G.; Jia, N.; Cannavo, S.; Beck-Peccoz, P.; Aimaretti, G.; Ambrosio, M. R.; Di Somma, C.; Losa, M.; Ferone, D.; Lubrano, C.; Scaroni, C.; Giampietro, A.; Corsello, S. M.; Poggi, M.
abstract

Purpose: To examine differences in effects according to growth hormone (GH) treatment duration in adult GH-deficient patients. Methods: In the Italian cohort of the observational Hypopituitary Control and Complications Study, GH-treated adults with GH deficiency (GHD) were grouped by duration of treatment; ≤ 2 years (n = 451), > 2 to ≤ 6 years (n = 387) and > 6 years (n = 395). Between-group differences in demographics, medical history, physical characteristics, insulin-like growth factor-I standard deviation score (IGF-I SDS) and lipid profile at baseline, last study visit and changes from baseline to last study visit were assessed overall, for adult- and childhood-onset GHD and by gender using ANOVA for continuous variables and Chi-squared test for categorical variables. Results: At baseline, treatment duration groups did not differ significantly for age, gender, body mass index, GHD onset, IGF-I SDS, lipid profile, and quality of life. Mean initial GH dose did not differ significantly according to treatment duration group in any subgroup, except female patients, with highest mean dose seen in the longest duration group. In the longest duration group for patients overall, adult-onset patients and male patients, there were significant decreases in GH dose from baseline to last visit, and in total and low-density lipoprotein (LDL)-cholesterol concentrations. IGF-I SDS increased, to a greater extent, in the longest duration group for patients overall and female patients. Conclusions: The results show that long-term GH treatment is associated with decreasing GH dose, increased IGF-I, decreased LDL-cholesterol and the presence of surrogate markers that help to give confidence in a diagnosis of GHD.


2018 - Baseline characteristics and hormonal pattern in Klinefelter syndrome patients: first data from the Klinefelter ItaliaN Group (KING) [Abstract in Atti di Convegno]
Accardo, G.; Pasquali, D.; Chiodini, P.; Simeon, V.; Foresta, C.; Ferlin, A.; Maggi, M.; Vignozzi, L.; Corona, G.; Lanfranco, F.; Rochira, V.; Calogero, A. E.; Giagulli, V. A.; Bonomi, M.; Pivonello, R.; Balercia, G.; Pizzocaro, A.; Salacone, P.; Aversa, A.; Garolla, A.; behalf of the Klinefelter ItaliaN Group (KING), On
abstract

The data on hormonal status of a large series of men with Klinefelter Syndrome included in the Klinefelter Italian Group (KING) study is here presented.


2018 - CONFRONTO DELLA FUNZIONALITÀ IPOFISARIA NELLA SELLA VUOTA PRIMARIA E SECONDARIA: DATI PRELIMINARI [Abstract in Atti di Convegno]
Magnani, E.; Decaroli, M. C.; Leoni, L.; Diazzi, C.; Rochira, V.
abstract

Analisi comparativa di dati clinici in pazienti con sella vuota primaria e secondaria


2018 - Could chronic Vardenafil administration influence the cardiovascular risk in men with type 2 diabetes mellitus? [Articolo su rivista]
Santi, Daniele; Locaso, Michela; Granata, Antonio R; Trenti, Tommaso; Roli, Laura; Pacchioni, Chiara; Rochira, Vincenzo; Carani, Cesare; Simoni, Manuela
abstract

Introduction Appropriate algorithms for the prediction of cardiovascular risk are strongly suggested in clinical practice, although still controversial. In type 2 diabetes mellitus (T2DM), the benefi- cial effect of phosphodiesterase (PDE)-5 inhibitors is demonstrated on endothelial function but not on the estimation of cardiovascular risk. Aim To study whether the chronic Vardenafil administration to men with T2DM influences vari- ables correlated with the predicted long-term cardiovascular risk calculated by different vali- dated algorithms. Methods Per-protocol analysis of a longitudinal, prospective, randomized, placebo-controlled, dou- ble-blind, investigator-started, clinical trial. 54 male patients affected by T2DM were assigned to study (26patients) and control-group (28patients), respectively. The study included a treatment phase (24weeks) (Vardenafil/placebo 10mg twice-daily) and a follow- up phase (24weeks). Three time points were considered: baseline(V0), end of treatment (V1) and end of the study(V2). Parameters evaluated: endothelial health-related parameters and cardiovascular risk, assessed by calculating the Framingham (coronary hart disease [CHD], myocardial infarction [MI], stroke and cardiovascular disease [CVD]), ASSIGN and CUORE equations. Results Predicted cardiovascular risk at ten years resulted different using the three algorithms cho- sen, without differences between study and control groups and among visits. IL-6 was directly related to CHD, CVD and CUORE scores at V1 and with MI and STROKE at V2. Similarly, hs-CRP was directly related to CHD, MI, STROKE and CUORE only at V1 in the study group. Testosterone serum levels were inversely related to CHD and MI at V1 in study group. Discussion The predicted cardiovascular risk is different depending on the algorithm chosen. Despite no predictive risk reduction after six months of treatment, a possible effect of Vardenafil could be hypothesized through its action on inflammation markers reduction and through restoration of normal testosterone levels.


2018 - EAA clinical guideline on management of bone health in the andrological outpatient clinic [Articolo su rivista]
Rochira, V.; Antonio, L.; Vanderschueren, D.
abstract

Background: Male osteoporosis is now a well-recognized medical disorder with established clinical guidelines for both diagnosis and management. Prevention as well as management of osteoporosis in men consulting the andro- logical outpatient clinic because of low testosterone, how- ever, is not well established. This gap of knowledge is -at least partly- explained by the controversy with respect to the threshold of testosterone needed for skeletal mainte- nance. However, testosterone deficiency may be clearly associated with bone loss as well frailty in men. The aim of the guideline was to provide andrologists with the most updated, evidence based advices on the management of bone disease in men and to make them aware of the potential silent presence of osteoporosis in hypogonadal men. Methods: The GRADE (Grading of Recommendations, Assessment, Development, and Evaluation) system for grading the quality of evidence and the strength of recom- mendations was used to grade recommendations. Results: A total of 32 recommendations were provided concerning clinical evaluation, diagnosis and therapy of male osteoporosis in the andrological patient. Conclusion: Therefore, the management of patients with potential hypogonadism should include a complete bone health assessment, besides clinical and biochemical evalu- ation of gonadal status. Such bone health assessment should include specific items in medical history and phys- ical examination related to fracture risk. Furthermore, dual-energy absorptiometry is indicated to evaluate frac- ture risk in men with confirmed clinical hypogonadism. Regarding treatment, besides general measures to prevent or manage male osteoporosis testosterone replacement can be initiated (as described in guidelines for hypogo- nadism), but data on its efficacy in preventing fractures are lacking. Thus, additional anti-osteoporotic may be needed, especially in men with very low testosterone who are at high risk for bone loss and/or in men not able to receive testosterone replacement.


2018 - Gonadal function in human immunodeficiency virus (HIV)-infected men assessed by isotopic dilution-liquid chromatography-tandem mass spectrometry (ID-LC-MS/MS) and chemiluminescent assay. [Abstract in Atti di Convegno]
De Vincentis, S.; Decaroli, M. C.; Diazzi, C.; Morini, F.; Bertani, D.; Fanelli, F.; Mezzullo, M.; Santi, D.; Baraldi, E.; Tagliavini, S.; Pagotto, U.; Guaraldi, G.; Rochira, Vincenzo
abstract

BACKGROUND: HIV infection is associated to premature decline of serum T1,2. However, prevalence and biochemical characterization of hypogonadism in HIV-infected men are still to be well defined1,2. AIM OF THE STUDY: We evaluated the gonadal status in young to middle aged HIV-infected men in order to characterize hypogonadism by assessing circulating total T (TT) with either Liquid Chromatography tandem Mass Spectrometry (LC-MS/MS) or chemiluminescent immunoassay. METHODS: Prospective, cross-sectional, observational study on 315 consecutive HIV-infected male patients with ongoing Highly Active Antiretroviral Therapy (HAART), attending the Metabolic Clinic of Infectious Diseases. Serum TT, gonadotropins and sex hormone-binding globulin (SHBG) were measured by chemiluminescent immunoassay. Serum TT was also assessed by the gold standard LC-MS/MS in 233 patients. Free T (FT) was calculated by using Vermeulen equation3. Hypogonadism was defined as serum TT levels below 320 ng/dL and/or free T levels below 64 pg/ml4. Statistical analysis: Categorical variables were compared using Chi-Square test, while correlations were performed using Spearman’s Rho coefficient and linear regression models. RESULTS: 315 HIV-infected patients were enrolled (mean age 45.56±5.61 years) with average duration of HIV-infection of 16.57±10.45 years. Considering serum total T levels assessed by LC-MS/MS and immunoassay, 11 patients out of 233 (4.8%) and 10 patients out of 315 (3.2%) had T deficiency, respectively. TT combined with luteinizing hormone (LH) levels was used to classify hypogonadism (Table 1). No difference was found among subgroups comparing the two methodologies used for TT measurement (p=0.914). 56 patients (17.8%) showed SHBG above the normal range (>71.4 nmol/L). Considering calculated FT, the incidence of hypogonadism raised to 6.9% using either immunoassay or LC-MS/MS, respectively (Table 1), with no difference between methodologies (p=0.895). Including compensated form oh hypogonadism, the prevalence raised to 13% for TT and to 15% for FT. Patients with low FT were older than eugonadal patients (p=0.005) and showed a significantly longer duration of HIV-infection (p<0.0001) and HAART (p=0.002), while they did not differ for body mass index (p=0.231). FT showed an inverse relation with age (-0.340, p<0.0001, R2=0.116), years of infection (-0.339, p<0.0001, R2=0.120) and years of HAART (-0.346, p<0.0001, R2=0.117), but not with BMI of patients. CONCLUSIONS: To the best of our knowledge, this is the first, properly-designed prospective study aiming to investigate the gonadal status of HIV-infected men with both LC-MS/MS and chemiluminescent assay. In HIV-infected patients a) the two methodologies have equivalent reliability in TT measurement; b) SHBG for calculated FT is essential for the detection of T deficiency, revealing the real prevalence of hypogonadism in this context; c) duration of HIV-infection and HAART seem to be potent predictive factors for serum FT levels, suggesting a concomitant negative effect of virus per se and antiretroviral drugs on gonadal function. References 1Rochira V et al. Premature decline of serum total testosterone in HIV-infected men in the HAART-era. PLoS One. 2011;6(12):e28512. 2Rochira V & Guaraldi G. Hypogonadism in the HIV-infected man. Endocrinol Metab Clin North Am. 2014 Sep;43(3):709-30. 3Vermeulen A et al. A critical evaluation of simple methods for the estimation of free testosterone in serum. J Clin Endocrinol Metab 1999; 84:3666–3672 4Bhasin S et al. Testosterone Therapy in Men With Hypogonadism: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2018 May 1;103(5):1715-1744.


2018 - IL SODIO SIERICO È INVERSAMENTE CORRELATO ALLA FRAILTY E ALLA DENSITÀ MINERALE OSSEA (BMD) NEI PAZIENTI CON INFEZIONE DA HUMAN IMMUNODEFICIENCY VIRUS (HIV) [Abstract in Atti di Convegno]
De Vincentis, S.; Decaroli, MARIA CHIARA; Diazzi, C.; Santi, D.; Menozzi, M.; Zona, S.; Guaraldi, G.; Rochira, V.
abstract

L'iponatriemia si associa alla frailty nei pazienti con infezione da HIV


2018 - La risposta degli steroidi allo stimolo con gonadotropina corionica (hCG) nei soggetti con sindrome di Klinefelter non cambia utilizzando gli immunodosaggi o la spettrometria di massa [Articolo su rivista]
Roli, L.; Santi, D.; Tagliavini, S.; Cavalieri, S.; De Santis, M. C.; Baraldi, E.; Fanelli, F.; Mezzullo, M.; Granata, A. R.; Pagotto, U.; Pasquali, R.; Rochira, V.; Carani, C.; Simoni, M.; Trenti, T.
abstract

Obiettivi. La cromatografia liquida associata alla spettrometria di massa tandem (LC-MS/MS) è stata sviluppata contemporaneamente agli immunodosaggi (IA) ed oggigiorno viene proposta come gold standard per il dosaggio degli steroidi. Le cellule del Leydig dei soggetti con sindrome di Klinefelter (KS) sono in grado di rispondere allo stimolo con gonadotropina corionica (hCG), anche se la produzione di testosterone (T) è difettosa. L'obiettivo dello studio è di valutare come i risultati ottenuti con gli IA e la LC-MS/MS possono differentemente impattare sui risultati di una ricerca clinica sulla steroidogenesi gonadica dopo stimolo con hCG. Metodi. E' stato condotto uno studio clinico longitudinale, prospettico, caso-controllo (clinicaltrial.gov NCT02788136), arruolando maschi con KS e controlli sani appaiati per età, sottoposti a stimolo con somministrazione di hCG. Gli steroidi sierici sono stati valutati in condizioni basali e per 5 giorni consecutivi ad una iniezione intramuscolare di 5000 IU di hCG utilizzando sia gli IA che la LC-MS/MS. Risultati. Sono stati arruolati 13 pazienti KS (36 ± 9 anni) non in terapia sostitutiva con T e 14 controlli sani (32 ± 8 anni). T, progesterone (P), cortisolo (C), 14-idrossi-progesterone (17OHP) e androstenedione (A) erano si- gnificativamente più elevati utilizzando di IA rispetto alla LC-MS/MS. I due metodi hanno dimostrato una relazione diretta sebbene con una costante sovrastima da parte degli IA. Entrambi i metodi hanno rilevato lo stesso profilo d'incremento di 17OHP e di T, con aree sotto la curva (AUC) equivalenti. Conclusioni. Sebbene sia stata dimostrata una relazione lineare tra IA e LC-MS/MS, quest'ultima è più sensibile ed accurata, mentre gli IA mostrano una costante sovrastima dei livelli di steroidi sierici. Questo risultato suggerisce la necessità di stabilire intervalli di riferimento metodo-specifici. La fondamentale differenza fra i due metodi apre una profonda riconsiderazione su cosa sia necessario per migliorare l'accuratezza dei dosaggi per gli steroidi.


2018 - Reliability of serum calcium to phosphorous (Ca/P) ratio as an accurate and inexpensive tool to define disorders of Ca/P metabolism. [Abstract in Atti di Convegno]
Madeo, B.; De Vincentis, S.; Kara, E.; Vescini, F.; Trenti, T.; Guaraldi, G.; Rochira, Vincenzo
abstract

This study investigates the accuracy of a simple, inexpensive index such as the Calcium (Ca) to Phosphorous (P) ratio in the diagnosis of disease of bone metabolism such as hyperparathyroidism and hypoposphoremia.


2018 - Reliabilty of serum Calcium to Phosphorus (Ca/P) ratio as an accurate and inexpensive tool to define disorders of Ca-P metabolism: preliminary data [Abstract in Rivista]
De Vincentis, S.; Monzani, M.; Kara, E.; Guaraldi, G.; Rochira, V.; Madeo, Bruno
abstract

Background: Primary hyperparathyroidism (PHPT) is the third most common endocrine disorder. The Ca/P ratio is an accurate tool to differentiate patients with PHPT (>3.5 if Ca and P are expressed in mg/dl) from healthy subjects [1]. The reliability of this index is based on the fact that serum Ca and P are inversely related together. However, other disorders of the Ca-P metabolism, such as hypophosphoremia (HypoP), might impair the Ca/P ratio. Aim: To validate the accuracy of Ca/P ratio in the diagnosis of Ca-P metabolism disorders, including also patients with documented HypoP. Methods: A single-center, retrospective, case-control study was carried out, including 130 patients with documented PHPT and 300 patients with HypoP, compared with 120 controls. HypoP patients were enrolled among HIV-infected patients on HAART treatment from the large Modena cohort. The main outcome measures were: serum Ca, P, parathyroid hormone (PTH), 25-OH vitamin D, albumin and creatinine. Statistical analysis: Comparisons among groups were performed by the nonparametric Kruskal-Wallis, followed by the Dunn’s post hoc test. The diagnostic accuracy of Ca/P ratio was investigated by receiver operator characteristics (ROC) curves in order to define cut-off points (with the highest sensitivity and specificity). Results: The Ca/P ratio was significantly higher in the group of PHPT together with HypoP, compared to controls (P<0.0001). Also Ca and PTH were significantly different among groups, in particular they were higher (P<0.0001) in PHPT than both controls and HypoP, as expected. At ROC curves analysis, the cut-off of 3.6 for Ca/P ratio was able to identify patients with PHPT and HypoP (sensitivity 91%; specificity 93%). Among patients with Ca/P ratio above 3.6, the thresholds of 10.2 mg/dl for serum Ca (sensitivity 91%; specificity 98%) and of 83.6 pg/ml for PTH (sensitivity 92%; specificity 93%) were defined for the specific diagnosis of PHPT. Conclusions: In this study we confirm the role of serum Ca/P ratio as a reliable index to diagnose a Ca-P metabolism disorder, especially PHPT and HypoP. In clinical practice, when a Ca/P ratio above 3.6 is found, the presence of serum Ca>10.2 mg/dl or PTH>83.6 pg/ml is able to discriminate patients with PHPT from those with HypoP. Reference: 1. Madeo et al, Serum Calcium to Phosphorous (Ca/P) Ratio Is a Simple, Inexpensive and Accurate Tool in the Diagnosis of Primary Hyperparathyroidism. JRBM Plus, 2017. DOI: 10.1002/jbm4.10019.


2018 - Serum Calcium to Phosphorous (Ca/P) Ratio is a simple, inexpensive, and accurate tool in the diagnosis of primary hyperparathyroidism [Articolo su rivista]
Madeo, B.; Kara, E.; Cioni, K.; Vezzani, S.; Trenti, T.; Santi, D.; Simoni, M.; Rochira, V.
abstract

Primary hyperparathyroidism (PHPT) diagnosis is challenging and is based on serum calcium (Ca) and parathyroid hormone (PTH). Because serum Ca and phosphorous (P) are inversely related in PHPT, we investigated the diagnostic value of the serum Ca/P ratio in the diagnosis of PHPT. We report a single-center, case-controlled, retrospective study including 97 patients with documented PHPT and compared them with those of 96 controls (C). The main outcome measures were: serum PTH, 25-OH vitamin D, Ca, P, albumin, and creatinine. Sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of the serum Ca/P ratio were calculated. The results were verified using an independent, anonymous set of data extracted from a laboratory database containing over 900 million entries. A total of 35 (36.1%) PHPT patients had normocalcemic PHPT (NCHPT). Ca and PTH were significantly higher in PHPT than in C (p < 0.0001). P was significantly lower in PHPT than in C (p < 0.0001). The Ca/P ratio was significantly higher in PHPT than in C (p < 0.0001). Receiver-operating characteristic (ROC) curves analyses identified a cutoff of 2.71 (3.5 if Ca and P are expressed in mg/dL) for Ca/P ratio with a sensitivity and specificity of 86% and 87%, respectively (p < 0.0001), confirmed by the independent, big data approach. In conclusion, Ca/P is a valuable tool for the diagnosis of PHPT and is of superior value compared to serum Ca alone, especially in NCPHT. Because Ca/P is simple, inexpensive, and easily accessible worldwide, this ratio is useful for PHPT diagnosis, especially in laboratory/medical settings relying on limited resources, such as low-income countries. © 2017 The Authors. JBMR Plus is published by Wiley Periodicals, Inc. on behalf of the American Society for Bone and Mineral Research.


2018 - Serum sodium is inversely related to frailty and bone mineral density (BMD) in human immunodeficiency virus (HIV)-infected patients [Abstract in Rivista]
De Vincentis, S.; Decaroli, MARIA CHIARA; Diazzi, C.; Santi, D.; Carli, F.; Zona, S.; Guaraldi, G.; Rochira, V.
abstract

Background HIV-infected patients are predisposed to an increased risk of hyponatremia. In healthy population, low sodium is associated with impaired health status and reduced BMD, but less is known about this association in HIV-infection. Aim To investigate the relationship between serum sodium, frailty and BMD in a large cohort of HIV-infected patients. Methodology A retrospective, observational, cohort study on adult HIV-infected patients (age R18 years), attending the Multidisciplinary Metabolic Clinic of Modena, was carried out including all sodium examinations performed at the Modena lab from 2007 to 2017 available in a large database. Laboratory ranges of normality for sodium (136–146mEq/l) were used to subdivide records in hyponatremic (HypoNa), hypernatremic (HyperNa) and normonatremic (NormoNa) groups. BMD was measured at total body, lumbar spine (L1–L4) and total hip using a Hologic QDR-2000 densitometer (DXA). Frailty was calculated through 38-item multimorbidity frailty index. Statistical analysis Parameters were not normally distributed and Kruskal-Wallis test, followed by Dunn’s test, was used to compare continuous variables. Correlations were performed using linear regression models. Results 8101 records (5454 from males and 2647 from females) of serum sodium (mean 139.4G3.1 mEq/l) evaluated in HIV-infected patients (mean age 49.0G7.9 years) were considered. 617 (7.6%), HypoNa, 44 (0.5%) HyperNa and 7440 (91.8%) NormoNa were found. Frailty score was inversely related to serum sodium (rZK0.174, R2Z0.03, P!0.0001), even after the exclusion of HyperNa group (RZK0.191, R2Z0.036, P!0.0001). Frailty was significantly higher in HypoNa than NormoNa (P!0.001). Considering results at DXA examination, BMD was normal in 30.3% and reduced in 69.7% (54.8% osteopenia, 14.9% osteoporosis). Total body BMD, but not femoral nor lumbar, directly correlated with serum sodium (RZ0.049, P!0.001) and it was significantly lower in HypoNa compared to NormoNa (PZ0.029). Conclusions This study shows that serum sodium is inversely related to frailty, suggesting its potential role as reliable and cheap marker in the HIV-infection follow-up. Furthermore, we demonstrate a direct correlation between sodium and body BMD in HIV-infected patients, similarly to general population. DOI: 10.1530/endoabs.56.P745


2018 - Testosterone (T) and estradiol (E2) are poorly associated to the reduction of bone mineral density (BMD) in Young/Middle Aged Men with Human immunodeficiency virus (HIV). [Abstract in Atti di Convegno]
De Vincentis, S.; Decaroli, M. C.; Diazzi, C.; Morini, Federica; Bertani, D.; Fanelli, F.; Mezzullo, M.; Santi, D.; Pagotto, U.; Guaraldi, G.; Rochira, Vincenzo
abstract

Background: Osteopenia and osteoporosis, as well as hypogonadism, are common findings in men with HIV- infection and they occur at a younger age than healthy subjects. The reduction of BMD is due to both HIV-related and HIV-unrelated factors. Previous studies suggest that T deficiency is not or poorly associated with reduced BMD in HIV context. On the other hand, estrogens are consid- ered more important than androgens for bone health in general population, but data about their role in HIV- infected men are still scanty. Objective: To investigate the relationship between BMD and circulating sex steroids assessed by Liquid Chro- matography tandem Mass Spectrometry (LC-MS/MS) in a cohort of young/middle aged HIV-infected men. Methods: Prospective, cross-sectional, observational study on 233 consecutive HIV-infected male patients with ongo- ing Highly Active Antiretroviral Therapy (HAART), attend- ing the Multidisciplinary Metabolic Clinic of Modena. Body composition and BMD at total body, lumbar spine (L1 to L4) and total hip were measured using a Hologic QDR-2000 densitometer (DXA). LC-MS/MS was used for hormonal assays. Statistical analysis: The nonparametric Mann–Whitney U test was used for group comparisons because variables were not normally distributed at the Kolmogorov-Smirnov test. Correlations were performed using linear regression models. Results: Two hundred and thirty-three HIV-infected patients were enrolled (mean age 45.29 ! 5.33 years) with average duration of HIV-infection of 190.8 ! 102.8 months. Eight patients (3.4%) had hypogonadism, defined as total T serum levels below 300 ng/dL. Considering results at DXA examination, BMD was normal in 36.5% and reduced in 63.5% (55.8% osteopenia, 7.7% osteoporo- sis). Both total T and E2 did not significantly differ com- paring patients with normal BMD to patients with reduced BMD. Body and lumbar BMD did not show any significant difference between eugonadal patients and patients with low T and/or low E2, while both femoral BMD and femoral T-score were significantly higher in patients with E2 above 20 pg/mL than in those with E2 below 20 pg/mL (p = 0.043 and p = 0.033, respectively). At linear and step- wise multiple regression analyses, BMD was positively associated with total lean mass (R2 = 0.154, p < 0.0001); apart from it, neither T nor E2 correlated with BMD and T- score at any site. Conclusion: Classical factors associated to BMD as E2 and T seem to be less relevant in this model of male osteoporo- sis. Other specific HIV-related factors, such as changes in body composition and consequent lipodystrophy, could be more deeply involved than sex steroids as potential mecha- nisms in bone loss in this setting. Finally, we confirm the high prevalence of reduced BMD in young/middle aged HIV-infected men, representing one of the clinical hallmarks of the premature aging process related to HIV infection.


2018 - Thyroid dysfunction and Klinefelter Syndrome: a multicenter study from the KING group [Abstract in Atti di Convegno]
Balercia, G.; Bonomi, M.; Giagulli, V.; Lanfranco, F.; Rochira, V.; Giambersio, A.; Accardo, G.; Allasia, S.; Cangiano, B.; De Vincentis, S.; Esposito, D.; Giugliano, D.; Pasquali, D.; (KING)., on behalf of the Klinefelter ItaliaN Group
abstract

Thyroid function has been investigated in a large series of men with Klinefelter Syndrome showing that patients with Klinefelter Syndrome tend to have lower levels of fT4 than controls.


2017 - Aging and sex hormones in males [Articolo su rivista]
Decaroli, Maria Chiara; Rochira, Vincenzo
abstract

Several large cohort studies have disclosed the trajectories of sex steroids changes overtime in men and their clinical significance. In men the slow, physiological decline of serum testosterone (T) with advancing age overlaps with the clinical condition of overt, pathological hypogonadism. In addition, the increasing number of comorbidities, together with the high prevalence of chronic diseases, all further contribute to the decrease of serum T concentrations in the aging male. For all these reasons both the diagnosis of late-onset hypogonadism (LOH) in men and the decision about starting or not T replacement treatment remain challenging. At present, the biochemical finding of T deficiency alone is not sufficient for diagnosing hypogonadism in older men. Coupling hypogonadal symptoms with documented low serum T represents the best strategy to refine the diagnosis of hypogonadism in older men and to avoid unnecessary treatments.


2017 - Biologia del desiderio sessuale [Capitolo/Saggio]
Santi, Daniele; Granata, A.; Zirilli, Lucia; Rochira, Vincenzo
abstract

The chapter of the book deals with the biological and hormonal issues concerning sexual desire. In particular, the effects of hormones on human sexuality in both men and women, with particular regard to androgens and their role on sexual desire/interest are extensively reviewed.


2017 - Calcium to phosphorous ratio (Ca/P) as helpful index to recognize primary hyperparathyroidism, but not primary hypoparathyroidism: a big-data approach. [Abstract in Atti di Convegno]
Santi, Daniele; De Vincentis, Sara; Rochira, Vincenzo; Setti, M.; Tagliavini, S.; Varani, M.; Trenti, T.; Simoni, Manuela; Madeo, Bruno
abstract

BACKGROUND: Primary hyperparathyroidism (HyperPT) and primary hypoparathyroidism (HypoPT) are often underdiagnosed. Several strategies have been investigated in the past in order to identify diagnostic parameters, although the diagnosis of both HyperPT and HypoPT remains challenging so far, especially in asymptomatic patients. Calcium (Ca) and phosphorus (P) are inversely related together, thus the Ca/P ratio could be an useful tool to define these conditions. Recently, we proposed for the first time a cut-off of 3.5 for Ca/P ratio for the diagnosis of HyperPT. AIM: to evaluate the diagnostic value of the Ca/P ratio for HyperPT and HypoPT through a big-data approach. METHODOLOGY: a retrospective, observational, case-control study on big-data was carried out. All examinations of parathyroid hormone (PTH), Ca and P performed at the laboratory of Modena Hospital from 2010 to 2016 were consecutively included. We considered only patients between 18 and 90 years of age. Laboratory ranges of normality for both PTH and Ca were used to divide records in HyperPT, HypoPT and controls. Statistical analysis: The diagnostic accuracy of Ca/P ratio was investigated using receiver operator characteristics (ROC) curves in order to define cut-off points, which show higher sensitivity and specificity for the identification of affected patients. RESULTS: 46597 records were considered. 576 HyperPT (1.2%), 323 HypoPT (0.7%) and 45698 controls (98.1%) were found. Ca/P ratio was significantly different among groups (p<0.001). In particular, Ca/P ratio was significantly higher in HyperPT than controls (p<0.001). For the diagnosis of HyperPT, the threshold of 3.17 for Ca/P ratio was obtained by means of the ROC curve analysis, with 85% of both sensitivity and specificity. HypoPT showed lower Ca/P ratio compared to controls (p<0.001), although no useful threshold for the diagnosis was found at ROC curve because of the low sensitivity. CONCLUSIONS: We confirm the high sensitivity and specificity of Ca/P ratio for the diagnosis of HyperPT using the largest cohort of patients available so far in the literature. On the contrary, Ca/P ratio does not contribute to identify patients with HypoPT and further researches are needed to better describe this condition. In conclusion, Ca/P ratio is a simple and inexpensive diagnostic tool to recognize HyperPT.


2017 - Calcium to phosphorous ratio (Ca/P) as helpful index to recognize primary hyperparathyroidism, but not primary hypoparathyroidism: a big-data approach. [Abstract in Rivista]
De Vincentis, Sara; Santi, Daniele; Rochira, Vincenzo; Setti, M.; Tagliavini, S.; Varani, M.; Trenti, T.; Simoni, Manuela; Madeo, Bruno
abstract

Background Primary hyperparathyroidism (HyperPT) and primary hypoparathyroidism (HypoPT) are often underdiagnosed. Several strategies have been investigated in the past in order to identify diagnostic parameters, although the diagnosis of both HyperPT and HypoPT remains challenging so far, especially in asymptomatic patients. Calcium (Ca) and phosphorus (P) are inversely related together, thus the Ca/P ratio could be an useful tool to define these conditions. Recently, we proposed for the first time a cut-off of 3.5 for Ca/P ratio for the diagnosis of HyperPT. Aim To evaluate the diagnostic value of the Ca/P ratio for HyperPT and HypoPT through a big-data approach. Methodology A retrospective, observational, case-control study on big-data was carried out. All examinations of parathyroid hormone (PTH), Ca and P performed at the laboratory of Modena Hospital from 2010 to 2016 were consecutively included. We considered only patients between 18 and 90 years of age. Laboratory ranges of normality for both PTH and Ca were used to divide records in HyperPT, HypoPT and controls. Statistical analysis The diagnostic accuracy of Ca/P ratio was investigated using receiver operator characteristics (ROC) curves in order to define cut-off points, which show higher sensitivity and specificity for the identification of affected patients. Results 46 597 records were considered. 576 HyperPT (1.2%), 323 HypoPT (0.7%) and 45 698 controls (98.1%) were found. Ca/P ratio was significantly different among groups (P!0.001). In particular, Ca/P ratio was significantly higher in HyperPT than controls (P!0.001). For the diagnosis of HyperPT, the threshold of 3.17 for Ca/P ratio was obtained by means of the ROC curve analysis, with 85% of both sensitivity and specificity. HypoPT showed lower Ca/P ratio compared to controls (P!0.001), although no useful threshold for the diagnosis was found at ROC curve because of the low sensitivity. Conclusions We confirm the high sensitivity and specificity of Ca/P ratio for the diagnosis of HyperPT using the largest cohort of patients available so far in the literature. On the contrary, Ca/P ratio does not contribute to identify patients with HypoPT and further researches are needed to better describe this condition. In conclusion, Ca/P ratio is a simple and inexpensive diagnostic tool to recognize HyperPT.


2017 - Cured primary hyperparathyroidism after fine-needle aspiration biopsy-induced parathyroid disappearance [Articolo su rivista]
Kara, E.; Della Valle, E.; De Vincentis, S.; Rochira, V.; Madeo, B.
abstract

Spontaneous or fine-needle aspiration (FNAB)-induced remission of primary hyperparathyroidism (PHPT) may occur, especially for cystic lesions. However, the disease generally relapses over a short time period. We present a case of PHPT due to an enlarged hyperfunctioning parathyroid that underwent long-term (almost 9 years) clinical and ultrasonographic remission after the disappearance of the lesion following ultrasound (US)-assisted FNAB. A 67-year-old woman with PHPT underwent biochemical and US examinations that confirmed the diagnosis and showed a lesion suggestive for parathyroid adenoma or hyperplasia. US-FNAB of the lesion confirmed its parathyroid nature by means of elevated levels of parathyroid hormone within the needle washing fluid. At the second visit, the patient referred slight neck swelling that resolved spontaneously in the days after the US-FNAB. At subsequent follow-up, the enlarged parathyroid was not found; it was visible neither with US nor with magnetic resonance imaging. Biochemical remission persists after 9 years. This is the first reported case of cure of PHPT after US-FNAB performed on a hyperfunctioning parathyroid resulting in its complete disappearance over a period of 9 years of negative biochemical and ultrasonographic follow-up.


2017 - Diagnosi precoce nella Sindrome di Klinefelter [Abstract in Rivista]
Fisher, A. D.; Corona, G.; Rochira, V.; Maggi, M.; Simoni, M.; Santi, D.
abstract

The diagnosis of Klinefelter Syndrome is needed to guarantee adequate management, treatment and follow-up of the disease and to prevent the occurrence of associated comorbidities. The early diagnosis has the advantage to plan a continuous monitoring of the patients through periodic visits of follow-up. This allows to identify on time changes of the clinical pattern and to tailor treatment and counselling.


2017 - Effects of chronic administration of the phosphodiesterase inhibitor vardenafil on serum levels of adrenal and testicular steroids in men with type 2 diabetes mellitus [Articolo su rivista]
Santi, Daniele; Granata, A. R.; Pignatti, Elisa; Trenti, T.; Roli, L.; Bozic, R.; Zaza, S.; Pacchioni, C.; Rochira, Vincenzo; Carani, Cesare; Simoni, Manuela
abstract

To investigate whether long-term, chronic treatment with the phosphodiesterase-5 inhibitor vardenafil affects adrenal and testicular steroidogenesis in diabetic men, using liquid chromatography-tandem mass spectrometry. A longitudinal, prospective, investigator-started, randomized, placebo-controlled, double-blind, clinical-trial was carried out, enrolling 54 male patients affected by type 2 diabetes mellitus diagnosed within the last 5 years. In total, 26 and 28 patients were followed for 1 year and assigned to the study and placebo group, respectively. Progesterone, 17-hydroxyprogesterone, androstenedione, testosterone, dehydroepiandrosterone, dehydroepiandrosterone sulfate, corticosterone, 11-deoxycortisol and cortisol, were evaluated using liquid chromatography-tandem mass spectrometry. No differences were seen in sex testicular steroids between study and control group. As for the adrenal gland, steroids were considered according to the zona in which they are produced. No significant differences were seen in steroid produced in zona fasciculata. For the zona reticularis, dehydroepiandrosterone significantly decreased during treatment only in the study group (p = 0.007), with higher levels at visit 2 and 8 than other visits. The dehydroepiandrosterone sulfate/dehydroepiandrosterone ratio significantly increased during treatment only in the verum group. Considering the adrenal zona glomerulosa, corticosterone significantly changed among visits both in both groups (p < 0.001), with higher levels at visit 2 (p = 0.028), 8 (p = 0.003), and 10 (p = 0.044), i.e., in coincidence with the complete clinical and instrumental examination performed only at these visits according to the study protocol. Chronically administered vardenafil reduces dehydroepiandrosterone levels and increases dehydroepiandrosterone sulfate/dehydroepiandrosterone ratio as possible consequences of modulation of steroidogenic enzymes by tissue changes in cyclic adenosine monophosphate and cyclic guanosine monophosphate availability. A possibly stress-related increase in corticosterone is suggested for the first time.


2017 - Effects of probiotics assumption on serum thyroid hormone and TSH levels in hypothyroid patients on levothyroxine treatment. [Abstract in Atti di Convegno]
Spaggiari, Giorgia; Brigante, Giulia; De Vincentis, Sara; Cattini, Umberto; Roli, L.; De Santis, M. C.; Baraldi, Enrica; Tagliavini, S.; Varani, M.; Trenti, T.; Rochira, Vincenzo; Simoni, Manuela; Santi, Daniele
abstract

Background. Probiotics are live microorganisms able to confer a health benefit to the host, when administered in adequate amounts. Despite the widespread use of probiotics, their pharmacological interference remains unclear. The relationship between probiotics and levothyroxine (LT4) requirement has not yet been investigated. Objective. To assess whether a mixture of highly charged Lactobacilli and Bifidobacteria (VSL#3®) is able to influence LT4 metabolism acting on the gut microbiota. Methods. A prospective, randomized, single-blind, controlled, investigator-started clinical trial was carried out. Patients with primary hypothyroidism were randomly assigned to the study (VSL#3®+ LT4) and the control group (LT4). A two months treatment phase was followed by two months of follow-up. Clinical examination, blood tests for thyroid function and for peripheral tissue markers of thyroid hormones effect were performed monthly for 4 months. LT4 dose adjustments were performed during the study when necessary. Results. Thirty-nine patients were enrolled in the study group and 41 in the control group. No difference in thyroid function (thyroid-stimulating hormone (TSH), free triiodothyronine (fT3) and free thyroxine (fT4)) and peripheral tissue markers was found between groups and among visits. FT3/fT4 ratio was directly correlated to TSH at each visit in the control and in the study group, with the exception of the first evaluation of subjects treated with probiotics. LT4 daily dose adjustments occurred 10 times in 8 patients, more frequently in the control than in the study group, despite no differences in the mean LT4 daily dose. Conclusions. VSL#3® does not directly alter thyroid functional compensation. A probiotics- mediated influence on thyroid hormones homeostasis is suggested since probiotics supplementation could be able to prevent serum hormonal fluctuations.


2017 - Erezione, eiaculazione, orgasmo maschile. [Capitolo/Saggio]
Rochira, Vincenzo
abstract

The chapter deals with the hormonal factors involved in mechanisms of sexual desire, erectile function ejaculation, and orgasm in the human male.


2017 - Estrogen Deficiency in Men [Capitolo/Saggio]
Rochira, Vincenzo; Carani, Cesare
abstract

Congenital estrogen deficiency in men is a rare disorder that remains overlooked and undermanaged till adulthood. Similarly, other genetic diseases causing congenital hypogonadism are rare and indirectly lead to estrogen deficiency during infancy and puberty if not recognized and treated. Apart from congenital, genetic forms, estrogen deficiency may occur as a consequence of hypogonadism and reduced androgen production. Several lines of evidence support the idea that estrogen deficiency may be detrimental for several male physiological functions, especially in aging. Among them, bone loss, osteoporosis, increase of fat depots, and sexual function may depend to a various degree from estrogen deficiency. At present, however, nosological data on estrogen deficiency in men are lacking. This chapter describes the pathogenesis and clinical manifestations related to estrogen deficiency and provides clinical advice on how to diagnose and treat both congenital and acquired forms of estrogen deficiency.


2017 - Growth hormone deficiency and human immunodeficiency virus [Articolo su rivista]
Rochira, Vincenzo; Guaraldi, Giovanni
abstract

Treatment with highly active antiretroviral drugs (HAART) is associated with several endocrine and metabolic comorbidities. Pituitary growth hormone (GH) secretion seems to be altered in human immunodeficiency virus (HIV) infection, and about one-third of patients have biochemical GH deficiency (GHD). We undertake a historical review of the functioning of the GH/insulin-like growth factor-1 (IGF-1) axis in patients with acquired immunodeficiency syndrome, and provide an overview of the main changes of the GH/IGF-1 axis occurring today in patients with HIV. Both spontaneous GH secretion and GH response to provocative stimuli are reduced in patients with HIV infection, especially in those with HIV-related lipodystrophy. The role of fat accumulation on flattened GH secretion is discussed, together with all factors able to potentially interfere with the pituitary secretion of GH. Several factors contribute to the development of GHD, but the pathophysiologic mechanisms involved in the genesis of GHD are complex and not yet fully elucidated owing to the difficulty in separating the effects of HIV infection from those of HAART, comorbidities and body changes. An update on the putative mechanisms involved in the pathogenesis of altered GH secretion in these patients is provided, together with an overview on the therapeutic strategies targeting the GH/IGF-1 axis to counteract fat redistribution associated with HIV-related lipodystrophy. The clinical significance of GHD in the context of HIV infection is discussed. The administration of tesamorelin, a GH releasing hormone analogue, is effective in reducing visceral fat in HIV-infected patients with lipodystrophy. This treatment is promising and safer than treatment with high doses of recombinant human growth hormone, which has several side-effects.


2017 - Hypogonadism in Systemic Diseases [Capitolo/Saggio]
Rochira, Vincenzo
abstract

Serum testosterone is often lower than normal in patients with acute or chronic systemic diseases. The underlying mechanisms involved in the reduced testosterone secretion depend on the type of systemic disease; thus, many pathogenetic mechanisms might be involved. These mechanisms involve the hypothalamus and the pituitary (secondary hypogonadism), the testis (primary hypogonadism), or both. The resulting low-serum testosterone could be reversible or not depending on the pathogenetic mechanism. Furthermore, the relationships between hypogonadism and the systemic disease are complex since these two clinical conditions may interact with each other in a bidirectional interplay. How to interpret low-serum testosterone in systemic diseases is not easy and univocal. Biochemical hypogonadism should be differentiated into overt clinical hypogonadism and functional hypogonadism, and testosterone treatment should be offered taking into account the primary systemic disease and the possible beneficial or harmful effect on it, as well as the presence of signs and symptoms of hypogonadism. In this chapter the main systemic illnesses associated with hypogonadism will be discussed together with their underlying pathogenetic mechanisms, clinical significance, relevance, and clinical and practical implications.


2017 - Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism [Articolo su rivista]
Bonomi, M.; Rochira, V.; Pasquali, D.; Balercia, G.; Jannini, E. A.; Ferlin, A.; Calogero, A.; Corona, G.; Fabbri, A.; Francavilla, F.; Giagulli, V.; Lanfranco, F.; Maggi, M.; Pivonello, R.; Pizzocaro, A.; Radicioni, A.; Accardo, L.; Cangiano, B.; Condorelli, R. A.; Cordeschi, G.; D'Andrea, S.; Mambro, A. D.; Esposito, D.; Foresta, C.; Francavilla, S.; Galdiero, M.; Garolla, A.; Giovannini, L.; Balercia, A. R. M.; La Vignera, S.; Motta, G.; Luciano, L.; Pelliccione, F.; Persani, L.; Santi, D.; Selice, R.; Simoni, M.; Tatone, C.; Tirabassi, G.; Tresoldi, A. S.; Vicari, E.
abstract

Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that several aspects concerning this issue are far to be fully understood. By improving our knowledge on the role of some genetic aspects as well as on the KS, patients' interindividual differences in terms of health status will result in a better management of this chromosomal disease. The aim of this review is to provide an update on both genetic and clinical phenotype and their interrelationships.


2017 - Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders [Articolo su rivista]
Calogero, A. E.; Giagulli, V. A.; Mongioi, L. M.; Triggiani, V.; Radicioni, A. F.; Jannini, E. A.; Pasquali, D.; Balercia, G.; Bonomi, M.; Corona, G.; Fabbri, A.; Ferlin, A.; Francavilla, F.; Giagulli, V.; Lanfranco, F.; Maggi, M.; Pivonello, R.; Pizzocaro, A.; Radicioni, A.; Rochira, V.; Vignozzi, L.; Accardo, G.; Cangiano, B.; Condorelli, R. A.; Cordeschi, G.; D'Andrea, S.; Di Mambro, A.; Esposito, D.; Foresta, C.; Francavilla, S.; Galdiero, M.; Garolla, A.; Giovannini, L.; Granata, A. R. M.; La Vignera, S.; Motta, G.; Negri, L.; Pelliccione, F.; Persani, L.; Salzano, C.; Santi, D.; Selice, R.; Simoni, M.; Tatone, C.; Tirabassi, G.; Tresoldi, A. S.; Vicari, E.
abstract

Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. This condition is associated with much comorbidity and with a lower life expectancy. The aim of this review is to explore more in depth cardiovascular and metabolic disorders associated to KS. KS patients have an increased risk of cerebrovascular disease (standardized mortality ratio, SMR, 2.2; 95% confidence interval, CI, 1.6–3.0), but it is not clear whether the cause of the death is of thrombotic or hemorrhagic nature. Cardiovascular congenital anomalies (SMR, 7.3; 95% CI, 2.4–17.1) and the development of thrombosis or leg ulcers (SMR, 7.9; 95% CI, 2.9–17.2) are also more frequent in these subjects. Moreover, cardiovascular abnormalities may be at least partially reversed by testosterone replacement therapy (TRT). KS patients have also an increased probability of endocrine and/or metabolic disease, especially obesity, metabolic syndrome and type 2 diabetes mellitus. The effects of TRT on these abnormalities are not entirely clear.


2017 - Pituitary growth hormone (GH) secretion is partially rescued in HIV-infected patients with GH deficiency (GHD) compared to hypopituitary patients [Articolo su rivista]
Diazzi, Chiara; Brigante, Giulia; Ferrannini, G.; Ansaloni, Anna; Zirilli, Lucia; De Santis, M. C.; Zona, Stefano; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

Biochemical growth hormone deficiency is prevalent among human immunodeficiency virus-infected patients, but if this condition is clinically relevant remains challenging. The aim is to prospectively compare the growth hormone deficiency/insulin-like growth factor-1 status of 71 human immunodeficiency virus-infected patients with impaired growth hormone response to growth hormone releasing hormone + Arginine with that of 65 hypopituitary patients affected by a true growth hormone deficiency secondary to pituitary disease. The main outcomes were: basal serum growth hormone, insulin-like growth factor-1, insulin-like growth factor binding protein 3, growth hormone peak and area under the curve after growth hormone response to growth hormone releasing hormone + Arginine test, body mass index, waist and hip circumference, and body composition by dual energy X-ray absorptiometry. Insulin-like growth factor-1 binding protein 3, basal growth hormone (p < 0.005), growth hormone peak and area under the curve after growth hormone response to growth hormone releasing hormone + Arginine, waist to hip ratio, insulin-like growth factor-1, fasting glucose, insulin, and triglycerides (p < 0.0001) were lower in hypopituitary than human immunodeficiency virus-infected patients. Total and trunk fat mass by dual energy X-ray absorptiometry were higher in hypopituitary than in human immunodeficiency virus-infected patients (p < 0.0001). In all the patients total body fat was associated with both growth hormone peak and area under the curve at stepwise linear regression analysis. The degree of growth hormone deficiency is more severe in hypopituitary than in human immunodeficiency virus-infected patients, suggesting that the function of growth hormone/insulin-like growth factor-1 axis is partially rescued in the latter thanks to a preserved pituitary secretory reserve. Data from the current study suggest that human immunodeficiency virus-infected patients with peak growth hormone < 9 mg/L may have partial growth hormone deficiency and clinicians should be cautious before prescribing recombinant human growth hormone replacement treatment to patients living with human immunodeficiency virus.


2017 - Probiotics ingestion does not directly affect thyroid hormonal parameters in hypothyroid patients on levothyroxine treatment [Articolo su rivista]
Spaggiari, Giorgia; Brigante, Giulia; Vincentis, Sara De; Cattini, Umberto; Roli, Laura; De Santis, Maria Cristina; Baraldi, Enrica; Tagliavini, Simonetta; Varani, Manuela; Trenti, Tommaso; Rochira, Vincenzo; Simoni, Manuela; Santi, Daniele
abstract

Purpose: The relationship between probiotics and levothyroxine (LT4) requirement has not yet been investigated. The aim of this study was to assess whether a mixture of highly charged Lactobacilli and Bifidobacteria (VSL#3®) is able to influence LT4metabolism acting on the gut microbiota. Methods: A prospective, randomized, single-blind, controlled, investigator-started clinical trial was carried out. Patients with primary hypothyroidism were randomly assigned to the study (VSL#3® + LT4) and the control group (LT4). A 2-month treatment phase was followed by 2 months of follow-up. Clinical examination, blood tests for thyroid function and for peripheral tissue markers of thyroid hormones (PTM) were performed monthly. LT4dose adjustments were performed when necessary. Results: Thirty-nine patients were enrolled in the study group and 41 in the control group. No difference in thyroid function [thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), and free thyroxine (fT4)] and PTM was found between groups and among visits. FT3/fT4ratio was directly correlated to TSH at each visit in both groups, with the exception of the first evaluation of probiotics-treated subjects (rho = 0.287, p = 0.076). LT4daily dose adjustments occurred more frequently in the control than in the study group (p = 0.007), despite no differences in the mean LT4daily dose. In particular, LT4doses were increased six times in the control group and decreased four times in the study group. Conclusion: VSL#3® does not directly alter thyroid functional compensation. A probiotics-mediated influence on thyroid hormones homeostasis is suggested since probiotics supplementation could be able to prevent serum hormonal fluctuations.


2017 - Psychological rather than organic and/or relational components are involved in sexual dysfunction in Young/Middle aged human immunodeficiency virus (HIV)-Infected Men. [Abstract in Rivista]
Decaroli, MARIA CHIARA; De Vincentis, Sara; Diazzi, Chiara; Zona, Stefano; Guaraldi, Giovanni; Santi, Daniele; Rochira, Vincenzo
abstract

Background HIV-infection is associated to an increased prevalence of erectile dysfunction (ED). In HIV-infected men ED seems to be less related to serum Testosterone (T), depending from other factors. Aim To investigate the role of different components (organic, relational, psycho- logical) of erectile function by using validate questionnaires in HIV-infected men with normal serum T. Methodology Prospective, cross-sectional, observational study on eugonadal HIV-infected male patients with ongoing Highly Active Antiretroviral Therapy (HAART) attending the Clinic of Infectious Diseases. The International Index of Erectile Function (IIEF)-15, IIEF-5 and Structured Interview for Erectile Dysfunction (SIEDY) were used to assess sexual function. Sexual desire was further evaluated through a direct question during the visit. LC-MS/MS was used to assess gonadal status. Results 225 HIV-infected patients were enrolled (mean age 45.19G5.36 years). SIEDY scores at appendix and scale 3 were significantly higher in patients with ED at IIEF- 15 (nZ136, 60.4%) compared with those without ED (P!0.001 and PZ0.015, respectively). Conversely, scale 1 (PZ0.448) and 2 (PZ0.503) of SIEDY did not differ between patients with or without ED, suggesting a predominance of the psychological basis of ED in our cohort. The erectile function domain at IIEF-15 was directly correlated with IIEF-5 score (0.778, P!0.001). Similarly, the score at SIEDY appendix was significantly different among ED degrees at IIEF-15 (P!0.001). In particular, lower score was found in HIV-infected men without ED compared to those with mild, moderate and severe ED (P!0.001, PZ0.001, and P!0.001, respectively), confirming the reliability of these tools. Sexual desire was impaired in 73 patients (31.33%) at interview with a good correlation with the specific item of IIEF-15 (P!0.001). Conclusions The psychological component impacts in a significant manner on ED in HIV- infection context. Despite the high prevalence of comorbidities in these patients, the organic component does not affect erectile function. All the three validated questionnaires seem to be trustworthy in the diagnosis of ED in this setting.


2017 - Psychological rather than organic and/or relational components are involved in sexual dysfunction in young/middle aged human immunodeficiency virus (HIV)-infected men. [Abstract in Atti di Convegno]
Decaroli, MARIA CHIARA; De Vincentis, Sara; Diazzi, Chiara; Zona, Stefano; Guaraldi, Giovanni; Santi, Daniele; Rochira, Vincenzo
abstract

BACKGROUND: HIV-infection is associated to an increased prevalence of erectile dysfunction (ED). In HIV-infected men ED seems to be less related to serum Testosterone (T), depending from other factors. AIM: To investigate the role of different components (organic, relational, psychological) of erectile function by using validate questionnaires in HIV-infected men with normal serum T. METHODOLOGY: Prospective, cross-sectional, observational study on eugonadal HIV-infected male patients with ongoing Highly Active Antiretroviral Therapy (HAART) attending the Clinic of Infectious Diseases. The International Index of Erectile Function (IIEF)-15, IIEF-5 and Structured Interview for Erectile Dysfunction (SIEDY) were used to assess sexual function. Sexual desire was further evaluated through a direct question during the visit. LC-MS/MS was used to assess gonadal status. RESULTS: 225 HIV-infected patients were enrolled (mean age 45.19±5.36years). SIEDY scores at appendix and scale 3 were significantly higher in patients with ED at IIEF-15 (n=136, 60.4%) compared with those without ED (p<0.001 and p=0.015, respectively). Conversely, scale 1 (p=0.448) and 2 (p=0.503) of SIEDY did not differ between patients with or without ED, suggesting a predominance of the psychological basis of ED in our cohort. The erectile function domain at IIEF-15 was directly correlated with IIEF-5 score (0.778, p<0.001). Similarly, the score at SIEDY appendix was significantly different among ED degrees at IIEF-15 (p<0.001). In particular, lower score was found in HIV-infected men without ED compared to those with mild, moderate and severe ED (p<0.001, p=0.001, and p<0.001, respectively), confirming the reliability of these tools. Sexual desire was impaired in 73 patients (31.33%) at interview with a good correlation with the specific item of IIEF-15 (p<0.001). CONCLUSIONS: The psychological component impacts in a significant manner on ED in HIV-infection context. Despite the high prevalence of comorbidities in these patients, the organic component does not affect erectile function. All the three validated questionnaires seem to be trustworthy in the diagnosis of ED in this setting.


2017 - Serum calcium to phosphorous ratio (Ca/P) as a simple, inexpensive screening tool in the diagnosis of primary hyperparathyroidism (PHPT). [Abstract in Atti di Convegno]
Madeo, Bruno; Kara, Elda; Cioni, K.; Vezzani, Silvia; Simoni, Manuela; Rochira, Vincenzo
abstract

Background The diagnosis of primary hyperparathyroidism (PHPT) is challenging and is based on serum calcium (Ca) and parathyroid hormone (PTH). As serum Ca and phosphorous (P) are inversely related in PHPT, the Ca/P ratio might be considered a good candidate tool in the diagnosis of PHPT. The aim of this study is to investigate the diagnostic value of the Ca/P ratio in the diagnosis of PHPT. Methods For this single-centre, case-controlled, retrospective study we collected data from review charts of 97 patients with documented PHPT (69 females; 28 males) and compared them with those of 96 controls (C) (44 females; 52 males). The retrospective nature of the study allows obtaining for certain the diagnosis of PHPT. Main outcome measures were: serum PTH, 25-OH Vitamin D, Ca, P, albumin, and creatinine. Results Among PHPT patients, 35 (36.1%) had normocalcemic PHPT (NCHPT). Ca was significantly higher in PHPT (median: 11; min-max: 9.4-15.5) than C (9.4; 8.3-10.2) (p<0.0001). P was significantly lower in PHPT (2.4; 1.4-3.9) than in C (3.5; 2.1-4.5) (p<0.0001). PTH was significantly higher in PHPT (135.2; 57.6-1748) than in C (32.1; 14-80.7) (p<0.0001). Ca/P ratio was significantly higher in PHPT (4.6; 2.7-8.8) than in C (2.7; 2.0-4.6) (p<0.0001). ROC curves analyses identified a of 3.5 for Ca/P ratio with a sensitivity and specificity of 86% and 87%, respectively (p<0.0001). Conclusions Ca/P ratio is a valuable highly sensitive, highly specific tool for the diagnosis of PHPT. Besides, Ca/P has the best diagnostic value in identifying normocalcemic PHPT (NCPHPT). Considering that Ca/P is simple to obtain, easily accessible in every clinical and laboratory setting worldwide, and inexpensive even when used in large sample size of patients, this diagnostic tool could be useful for screening PHPT, especially in patients accessing emergency rooms or in the general practitioner setting. This biochemical index has the advantage to be universally used in all clinical settings for both the diagnosis and the screening of PHPT thanks to its low costs and worldwide availability in any laboratory setting (even in developing countries).


2017 - Sperm recovery and ICSI outcomes in Klinefelter syndrome: A systematic review and meta-analysis [Articolo su rivista]
Corona, G.; Pizzocaro, A.; Lanfranco, F.; Garolla, A.; Pelliccione, F.; Vignozzi, L.; Ferlin, A.; Foresta, C.; Jannini, E. A.; Maggi, M.; Lenzi, A.; Pasquali, D.; Francavilla, S.; Balercia, G.; Bonomi, M.; Calogero, A.; Fabbri, A.; Francavilla, F.; Giagulli, V.; Pivonello, R.; Radicioni, A.; Rochira, V.; Accardo, G.; Cangiano, B.; Condorelli, R. A.; Cordeschi, G.; D'Andrea, S.; Di Mambro, A.; Esposito, D.; Galdiero, M.; Giovannini, L.; Granata, A. R. M.; La Vignera, S.; Motta, G.; Negri, L.; Persani, L.; Salzano, C.; Santi, D.; Selice, R.; Simoni, M.; Tatone, C.; Tirabassi, G.; Tresoldi, A. S.; Vicari, E.
abstract

BACKGROUND: Specific factors underlying successful surgical sperm retrieval rates (SRR) or pregnancy rates (PR) after testicular sperm extraction (TESE) in adult patients with Klinefelter syndrome (KS) have not been completely clarified. OBJECTIVE AND RATIONALE: The aim of this review was to meta-analyse the currently available data from subjects with KS regarding SRRs as the primary outcome. In addition, when available, PRs and live birth rates (LBRs) after the ICSI technique were also investigated as secondary outcomes. SEARCH METHODS: An extensive Medline, Embase and Cochrane search was performed. All trials reporting SRR for conventional- TESE (cTESE) or micro-TESE (mTESE) and its specific determinants without any arbitrary restriction were included OUTCOMES: Out of 139 studies, 37 trials were included in the study, enrolling a total of 1248 patients with a mean age of 30.9 ± 5.6 years. The majority of the studies (n = 18) applied mTESE, 13 applied cTESE and in one case testicular sperm aspiration (TESA) was used. Additionally, four studies used a mixed approach and in one study, the method applied for sperm retrieval was not specified. Overall, a SRR per TESE cycle of 44[39;48]% was detected. Similar results were observed when mTESE was compared to cTESE (SRR 43[35;50]% vs 45[38;52]% for cTESE vs micro-TESE, respectively; Q = 0.20, P = 0.65). Meta-regression analysis showed that none of the parameters tested, including age, testis volume and FSH, LH and testosterone (T) levels at enrollment, affected the final SRR. Similarly, no difference was observed when a bilateral procedure was compared to a unilateral approach. No sufficient data were available to evaluate the effect of previous T treatment on SRR. Information on fertility outcome after ICSI was available for 29 studies. Overall a total of 218 biochemical pregnancies after 410 ICSI cycles were observed (PR = 43[36;50]%). Similar results were observed when LBR was analyzed (LBR = 43[34;53]%). Similar to what was observed for SRR, no influence of KS age, mean testis volume, LH, FSH or total T levels on either PR and LBR was observed. No sufficient data were available to test the effect of the women's age or other female fertility problems on PR and LBR. Finally, no difference in PR or LBR was observed when the use of fresh sperm was compared to the utilization of cryopreserved sperm. WIDER IMPLICATIONS: The present data suggest that performing TESE/micro-TESE in subjects with KS results in SRRs of close to 50%, and then PRs and LBRs of close to 50%, with the results being independent of any clinical or biochemical parameters tested.


2017 - Testosterone (T) is poorly related to erectile dysfunction (ED) in young/middle aged human immunodeficiency virus (HIV)-infected men. [Abstract in Atti di Convegno]
De Vincentis, Sara; Santi, Daniele; Decaroli, MARIA CHIARA; Fanelli, F.; Mezzullo, M.; Fazzini, A.; Ansaloni, Anna; Pagotto, U.; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

BACKGROUND: HIV-infection is strongly associated to ED in men. Preliminary data suggests that ED is poorly associated with serum T in HIV+ men. AIM: To investigate in HIV-infected men the relationship between sexual function as assessed by the validated International Index of Erectile Function (IIEF-15) and T deficiency using Liquid Chromatography-tandem Mass Spectrometry (LC-MS/MS). METHODOLOGY: Prospective, cross-sectional, observational study on HIV-infected male patients with ongoing Highly Active Antiretroviral Therapy (HAART), attending the Clinic of Infectious Diseases. IIEF-15 and IIEF-5 questionnaires were used to define ED, while LC-MS/MS was used for hormonal assays. RESULTS: 233 consecutive HIV-infected patients were enrolled (mean age 45.29±5.33years). Eight patients (3.4%) had total T <300ng/dL, while 142 patients (61.5%) had ED (score ≤25). Age, hormonal data and duration of HIV-infection and HAART did not differ among groups of patients according to the degree of ED. The direct comparison of each ED cluster showed that months of infection were significantly higher in men with severe ED compared to mild ED (p=0.037). The erectile function domain at IIEF-15 was directly correlated with IIEF-5 score (0.778, p<0.001), as expected. Moreover, the IIEF-15 score was inversely related to months of infection (-0.147, p=0.026), but not to months of HAART therapy (-0.121, p=0.071). CONCLUSIONS: To the best of our knowledge, this is the first, properly-designed prospective study aiming to investigate the relationship between erectile function and serum T, assessed by LC-MS/MS in HIV-infected men. In our cohort, a) IIEF-5 is reliable as IIEF-15 for ED diagnosis, b) ED is not associated with serum T, c) erectile function is not influenced by T and HAART, but only by HIV-infection duration. In conclusion, several specific factors, such as the duration of HIV infection, are involved in erectile function in HIV-infected men and should be carefully considered in this setting, while hormonal status seems to be less important


2017 - Testosterone is poorly related to erectile dysfunction in young/middle aged human immunodeficiency virus-infected men. [Abstract in Rivista]
De Vincentis, Sara; Santi, Daniele; Decaroli, MARIA CHIARA; Fanelli, F.; Mezzullo, M.; Fazzini, A.; Ansaloni, Anna; Pagotto, U.; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

Background human immunodeficiency virus (HIV)-infection is strongly associated to erectile dysfunction (ED) in men. Preliminary data suggests that ED is poorly associated with serum T in HIVC men. Aim To investigate in HIV-infected men the relationship between sexual function as assessed by the validated International Index of Erectile Function (IIEF-15) and T deficiency using Liquid Chromatography-tandem Mass Spectrometry (LC-MS/MS). Methodology Prospective, cross-sectional, observational study on HIV-infected male patients with ongoing Highly Active Antiretroviral Therapy (HAART), attending the Clinic of Infectious Diseases. IIEF-15 and IIEF-5 questionnaires were used to define ED, while LC-MS/MS was used for hormonal assays. Results 233 consecutive HIV-infected patients were enrolled (mean age 45.29G5.33 years). Eight patients (3.4%) had total T !300 ng/dl, while 142 patients (61.5%) had ED (score %25). Age, hormonal data and duration of HIV-infection and HAART did not differ among groups of patients according to the degree of ED. The direct comparison of each ED cluster showed that months of infection were significantly higher in men with severe ED compared to mild ED (PZ0.037). The erectile function domain at IIEF-15 was directly correlated with IIEF-5 score (0.778, P!0.001), as expected. Moreover, the IIEF-15 score was inversely related to months of infection (K0.147, PZ0.026), but not to months of HAART therapy (K0.121, PZ0.071). Conclusions To the best of our knowledge, this is the first, properly-designed prospective study aiming to investigate the relationship between erectile function and serum T, assessed by LC-MS/MS in HIV-infected men. In our cohort, i) IIEF-5 is reliable as IIEF-15 for ED diagnosis, ii) ED is not associated with serum T, iii) erectilef unction is not influenced by T and HAART, but only by HIV-infection duration. In conclusion, several specific factors, such as the duration of HIV infection, are involved in erectile function in HIV-infected men and should be carefully considered in this setting, while hormonal status seems to be less important. DOI: 10.1530/endoabs.49.EP1166


2017 - The steroid response to human chorionic gonadotropin (hCG) stimulation in men with Klinefelter syndrome does not change using immunoassay or mass spectrometry [Articolo su rivista]
Roli, L.; Santi, D.; Belli, S.; Tagliavini, S.; Cavalieri, S.; De Santis, M. C.; Baraldi, E.; Fanelli, F.; Mezzullo, M.; Granata, A. R.; Pagotto, U.; Pasquali, R.; Rochira, V.; Carani, C.; Simoni, M.; Trenti, T.
abstract

Purpose: Liquid-chromatography tandem mass-spectrometry (LC-MS/MS) was developed in parallel to Immunoassays (IAs) and today is proposed as the “gold standard” for steroid assays. Leydig cells of men with Klinefelter syndrome (KS) are able to respond to human chorionic gonadotropin (hCG) stimulation, even if testosterone (T) production was impaired. The aim was to evaluate how results obtained by IAs and LC-MS/MS can differently impact on the outcome of a clinical research on gonadal steroidogenesis after hCG stimulation. Methods: A longitudinal, prospective, case-control clinical trial. (clinicaltrial.gov NCT02788136) was carried out, enrolling KS men and healthy age-matched controls, stimulated by hCG administration. Serum steroids were evaluated at baseline and for 5 days after intramuscular injection of 5000 IU hCG using both IAs and LC-MS/MS. Results: 13 KS patients (36 ± 9 years) not receiving T replacement therapy and 14 controls (32 ± 8 years) were enrolled. T, progesterone, cortisol, 17-hydroxy-progesterone (17OHP) and androstenedione, were significantly higher using IAs than LC-MS/MS. IAs and LC-MS/MS showed direct correlation for all five steroids, although the constant overestimation detected by IAs. Either methodology found the same 17OHP and T increasing profile after hCG stimulation, with equal areas under the curves (AUCs). Conclusions: Although a linearity between IA and LC-MS/MS is demonstrated, LC-MS/MS is more sensitive and accurate, whereas IA shows a constant overestimation of sex steroid levels. This result suggests the need of reference intervals built on the specific assay. This fundamental difference between these two methodologies opens a deep reconsideration of what is needed to improve the accuracy of steroid hormone assays.


2017 - Thyroid nodules ultrasound classification and the importance of the endocrinologist clinical feeling. [Abstract in Rivista]
Madeo, Bruno; Brigante, Giulia; Ansaloni, Anna; Taliani, Erica; Simoni, Manuela; Rochira, Vincenzo
abstract

Background and aim of the study Several ultrasound (US) classifications for estimating thyroid nodules risk have been proposed. Since most of them are hardly applicable in clinical practice, we created a local tool, named Modena classification (MC), considering US characteristics and clinician subjective impression. The aim is to verify the diagnostic accuracy of MC and to compare it to US classifications of American Thyroid Association(ATA) (1) and British Thyroid Association(BTA) (2). Methods We prospectively enrolled 111 patients (33M, 78F; age 19–75; total 457 nodules) with an indeterminate, suspicious for malignancy or malignant cytology. All the patients underwent neck US before surgery and a score risk was assigned, according to MC: low (not certainly nodular or not suspect); intermediate (indeterminate); high (suspect or very suspect). Then, we retrospectively classified nodules according to ATA and BTA. The US pattern was related to hystology. Results All the classifications had low sensitivity and positive predictive value (PPV), and high specificity and negative predictive value (NPV) for low risk categories. For the intermediate risk category, BTA had the highest accuracy (68%). For higher risk categories, MC had good sensitivity (62%), high specificity (89%) and accuracy (81%); ATA had high sensitivity (83%), low specificity (48%), accuracy 58%; BTA had high sensitivity (88%), low specificity (44%), accuracy 57%. Conclusions A classification that considers the subjective impression of the clinician, in addition to the known US characteristics, has highest accuracy and specificity compared to guidelines classifications, particularly if the nodule has suspect US features. References (1) Haugen et al. Thyroid. 2016, 26: 1–133. (2) Perros et al. Clin Endocrinol (Oxf). 2014; 81 (Suppl 1):1–122. DOI: 10.1530/endoabs.49.EP1383


2017 - Use of l-Arginine with Growth Hormone-Releasing Hormone (GHRH) and the Endocrine Response [Capitolo/Saggio]
Brigante, Giulia; Rochira, Vincenzo
abstract

Arginine is one of the most common natural amino acids that takes part to the structure of the messenger ribonucleic acid (mRNA). In mammals l-arginine is a semiessential or an essential amino acid depending on age.


2016 - A KING for Klinefelter Syndrome: THe SIAMS task force [Abstract in Atti di Convegno]
Members, of the KING group: G. Balercia; Bonomi, M.; Calogero, A. E.; Corona, G.; Giagulli, V. A.; Ferlin, A.; Foresta, C.; Francavilla, S.; Garolla, A.; Jannini, E.; Lanfranco, F.; Maggi, M.; Pasquali, D.; Pizzocaro, A.; Radicioni, A.; Rochira, Vincenzo; Vignozzi, L.
abstract

The abstract deal with the activity of the KING group which belongs from the Italian Society of Andrology and Sexual Medicine (SIAMS) and is devoted to the study of Klinefelter Syndrome


2016 - Analisi del trattamento con ormone della crescita umano (GH) in base alla durata della terapia nei pazienti italiani dello studio HYPOCCS (Hypopituitary Control and Complication Study) [Abstract in Atti di Convegno]
Rochira, Vincenzo; Mossetto, Gilberto; Jia, Nan; Cannavò, Salvatore; Beck Peccoz, Paolo; Aimaretti, Gianluca; Ambrosio, Maria Rosaria; Di Somma, Carolina; Losa, Marco; Ferone, Diego; Lubrano, Carla; Scaroni, Carla; Giampietro, Antonella; S. Corsello, Salvatore; Poggi, Maurizio
abstract

Results of the HYPOCCS Study focusing on the role of the duration of r-hGH treatment on several parameters


2016 - Clinical and biological parameters in 362 Klinefelter syndrome subjects: The KING experience [Abstract in Atti di Convegno]
G., Balercia; M., Bonomi; A. E., Calogero; G., Corona; V. A., Giagulli; A., Ferlin; C., Foresta; A., Garolla; S., Francavilla; E., Jannini; F., Lanfranco; M., Maggi; L., Vignozzi; D., Pasquali; R., Pivonello; A., Pizzocaro; A., Radicioni; Rochira, Vincenzo; on behalf of the Klinefelter ItaliaN, Group
abstract

Klinefelter syndrome (KS) is a fascinating condition for clinicians and researchers due to the variety of open questions still waiting for an answer. KS is one of the most frequent chromosomal disorders, occurring in 1:500 to 1:1000 live male births. Although significant research has been conducted, KS remains frustratingly underdiagnosed with a remarkable portion of cases being unidentified, among which only 10% are in the prepubertal age while 25-50% in the adulthood. As a consequence, medical research results often become clouded due to the relatively small number of patients reported in scientific papers. To overcome this difficulty, the Italian Society of Andrology and Sexual Medicine (SIAMS) relayed to the expertise of Italian researchers and clinicians in this field to constitute an outstanding working group on KS. Thus, a network named KING (Klinefelter ItaliaN Group), aiming at sharing the know- how and collecting KS patients, to improve the knowledge of this syndrome, was created. KING is composed by fifteen high-specialized Endocrinology and Andrology units, either academic or institutes for treatment and research (IRCCS), located throughout Italy. Each unit has a principal investigator and a KING coordinator has been identified. Methods: A retrospective observational study of 362 KS patients among those regularly attending the units, after written informed consent has been obtained. Results: Up to now, three hundred and sixty two KS from 10 units have been registered. The mean age was 41.6±13.0 years (range:8–76years). Only seventeen KS were diagnosed before the age of 18 years. The mean testicolar volume was 2.9 ml in both testis(fig 1 A), BMI was 27.6±6 (fig 1 B) and 62 KS out of 265 meet the diagnostic criteria for metabolic syndrome (Mets). Total testostosterone plasma level was 386,3±202 ng/dl (Fig 2 panel A) with LH (Fig 2 panel A) and FSH mean levels of 16,65 ± 10 and 29,14±17 UI/L respectively. Conclusions: Our preliminary data showed a higher rate than expected of underdiagnosed KS compared to the Italian population that is made up of about 27.000.000 male subjects. This result, even if partial, raises the question of the true prevalence of KS, at least in Italy. Our patients presented with a wide spectrum of the classical Klinefelter symptoms. KS were overweight and, surprisingly, only 27% of them were diagnosed with Mets. In adulthood, two features were consistently present in every subject: small testes and high FSH and LH/testosterone ratio, despite normal testosterone levels. We confirm that such biochemical parameters combined with small testes should lead to a suspicion of KS.


2016 - Effects of chronic administration of the phosphodiesterase inhibitor vardenafil on serum levels of adrenal and testicular steroids in men with type 2 diabetes mellitus [Abstract in Rivista]
Santi, Daniele; Granata, A. R. M.; Pignatti, Elisa; Trenti, T.; Roli, L.; Bozic, R.; Zaza, S.; Rochira, Vincenzo; Carani, Cesare; Magnani, Elisa; Simoni, Manuela
abstract

Background. Steroidogenesis is a complex enzymatic pro- cess in which cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) play an important role. Phosphodiesterase-5 inhibitors(PDE5i) increase cGMP, improving NO availability. Objective. To investigate whether long-term, chronic treat- ment with the PDE5i Vardenafil affects adrenal and testicular steroidogenesis in diabetic men, using liquid chromatography- mass spectrometry (LC-MS/MS). Design. A longitudinal, prospective, investigator-started, randomized, placebo-controlled, double-blind, clinical-trial was carried out. Setting and participants. 54 male patients affected by T2DM diagnosed within the last 5 years were enrolled. 26 and 28 patients were assigned to the verum and placebo-group, re- spectively. Interventions. The study consisted of an enrolment phase, a treatment phase (24 weeks) (Vardenafil/placebo 10 mg twice- daily), and a follow-up phase (24 weeks). Outcome measurements. Progesterone (P), 17-hydroxy- progesterone (17OHP), androstenedione (A), testosterone (T), dehydroepiandrosterone (DHEA), DHEA sulphate (DHEAS), corticosterone, 11-deoxycortisol and cortisol (C), were evalu- ated using LC-MS/MS. Results. No differences were seen in sex testicular steroids between study and control group. For the adrenal gland, steroids were considered according to the zona in which they are pro- duced. Considering steroids produced in the zona fasciculata, no significant differences were seen in 11-deoxycortisol and C among visits, both in the study and in the control group. For the zona reticularis, DHEA significantly decreased during treatment only in the study group (p=0.007). At post-hoc test DHEA showed higher levels at visit 2 and 8 than in other visits. The DHEAS/DHEAS ratio significantly increased during treatment only in the verum group. Considering the adrenal zona glomeru- losa, corticosterone significantly changed among visits both in the study and in the control group (p&lt;0.001). At post-hoc test, in ПРОБЛЕМЫ ЭНДОКРИНОЛОГИИ, 5, 2016 both groups, corticosterone was significantly higher at visit 2 (p=0.028), 8 (p=0.003) and 10 (p=0.044), i.e. in coincidence with the complete clinical and instrumental examination per- formed only at these visits according to the study protocol. Conclusions. This is the first double-blind, placebo-con- trolled clinical-trial in which steroidogenesis is extensively in- vestigated by LC-MS/MS in T2DM men chronically treated with Vardenafil for 6 months, and followed-up for 6 months after therapy-withdrawal. Chronically administered Vardenafil reduces DHEA levels and increases DHEAS/DHEA ratio as possible consequences of modulation of steroidogenic enzymes by tissue changes in cGMP and/or cAMP availability. A possi- bly stress-related increase in corticosterone is suggested for the first time.


2016 - Erectile dysfunction is common among men with acromegaly and is associated with morbidities related to the disease [Abstract in Rivista]
Lotti, F.; Rochira, Vincenzo; Pivonello, R; Santi, Daniele; Galdiero, M; Maseroli, E; Balestrieri, A; Faustini Fustini, M; Peri, A; Sforza, A; Colao, A; Maggi, M; Corona, G
abstract

Background: The prevalence of erectile dysfunction (ED) and its correlates in men with acromegaly has never been investigated. Aim: To evaluate sexual function in men with acromegaly. Methods: Multicenter-based, retrospective analysis of a non-selected series of 57 acromegalic subjects (mean age: 52.7 14.2 years) was performed. Acromegalic subjects reporting ED (n = 24) were compared with matched ED- patients without acromegaly or pituitary disease (con- trols), selected from a cohort of more than 4000 subjects enrolled in the Flrence Sexual Medicine and Andrology Unit. Patients were interviewed using SIEDY structured interview, a 13-item tool for the assessment of ED-related morbidities. Several clinical and biochemical parameters were taken. Penile colour-Doppler ultrasound (PCDU) was performed in a subgroup of 37 acromegalic subjects. Results: ED was reported by 42.1% of acromegalic sub- jects. After adjusting for age and testosterone, acromegalic subjects with ED had a higher prevalence of hypertension, and more often reported an impairment of sleep-related erections and a longer smoking habit. Accordingly, acro- megaly-associated ED was characterized by a higher organic component and worse PCDU parameters. No rela- tionship between ED and testosterone levels or other acro- megaly-related parameters was found. However, acromegalic subjects with severe ED reported a longer dis- ease duration. In a case-control analysis, comparing acromegalic subjects with ED-matched-controls free from acromegaly (1:5 ratio), acromegalic men had a worse ED problem and a higher organic component of ED, as derived from SIEDY score. In line with these data, acrome- galic patients with ED had a higher prevalence of major adverse cardiovascular events (MACE) history at enrol- ment and lower PCDU parameters. Conclusions: Subjects with complicated acromegaly are at an increased risk of developing ED, especially those with cardiovascular morbidities. Our data suggest including a sexual function evaluation in routine acromegaly follow- up.


2016 - Erectile dysfunction is common among men with acromegaly and is associated with morbidities related to the disease. [Abstract in Atti di Convegno]
Lotti, F.; Rochira, Vincenzo; Pivonello, R.; Santi, Daniele; Galdiero, M.; Maseroli, E.; Balestrieri, Antonio; Faustini Fustini, M.; Peri, A.; Sforza, A.; Colao, A.; Maggi, M.; Corona, G.
abstract

Introduction: The prevalence of erectile dysfunction (ED) and its correlates in men with acromegaly has never been investigated. This study was aimed at evaluating sexual function in men with acromegaly.Methods: Multicenter-based, retrospective analysis of a non-selected series of 57 acromegalic subjects (52.7±14.2 years). Acromegalic subjects reporting ED (n=24) were compared with matched ED-patients without acromegaly or pituitary disease (controls), selected from a cohort of more than 4000 subjects enrolled in the Florence Unit. Patients were interviewed using SIEDY structured interview, a 13-item tool for the assessment of ED-related morbidities. Several clinical and biochemical parameters were taken. Penile colour-Doppler ultrasound (PCDU) was performed in a subgroup of 37 acromegalic subjects. Results: ED was reported by 42.1% of acromegalic subjects. After adjusting for age and testosterone, acromegalic subjects with ED had a higher prevalence of hypertension, and more often reported an impairment of sleep-related erections and a longer smoking habit.Acromegaly-associated ED was characterized by a higher organic component (Scale 1) and worse PCDU. No relationship between ED and testosterone levels or other acromegaly-related parameters was found. However, acromegalic subjects with severe ED reported a longer disease duration.In a case-control analysis, comparing acromegalic men with ED-matched-controls free from acromegaly (1:5 ratio), acromegalic men had a worse ED problem and a higher organic component of ED, as derived from SIEDY score. In line with these data, acromegalic patients with ED had a higher prevalence of major adverse cardiovascular events (MACE) history at enrolment and lower PCDU parameters. Conclusions:Subjects with complicated acromegaly are at an increased risk of developing ED, especially those with cardiovascular morbidities. Our data suggest including a sexual function evaluation in routine acromegaly follow-up.


2016 - Estrogens and male reproduction [Capitolo/Saggio]
Rochira, Vincenzo; Madeo, Bruno; Diazzi, Chiara; Zirilli, Lucia; Santi, Daniele; Carani, Cesare
abstract

n males, estrogens exert pleiotropic effects by acting on several tissue and organs, including the male reproductive system. The action of estrogens is manifest from prenatal life during which the exposure to estrogen excess might influence the development of some structures of the male reproductive tract. Male fertility is under the control of estrogens, especially in rodents. The loss of function of estrogen receptor alpha and/or of the aromatase enzyme leads to infertility in mice. In men, estrogens are able to exert their actions at several levels through the reproductive tract and on several different reproductive cells. However, the regulation of human male reproduction is more complex and the role of estrogens is less clear compared to mice. During fetal and perinatal life, estrogen acts on the central nervous system by modulating the development of some areas within the brain that are committed to controlling male sexual behavior in terms of setting gender identity, sexual orientation development and the evolution of normal adult male sexual behavior. This organizational, central effect of estrogens is of particular significance in other species (especially rodents and rams), being probably less important in men where psychosocial factors become more determining. Other relevant, non-reproductive physiological events depend on estrogen in men and they involve bone maturation and mineralization as well as metabolic functions. In this chapter we provide an update of estrogen’s role in male reproductive function by reviewing the physiological actions of estrogen on male reproduction and the pathophysiology related to estrogen deficiency and estrogen excess. Phenotypes associated with estrogen deficiency and excess in rodents and in man have shed new light on the mechanisms involved in male reproduction, challenging the perception of the predominant importance of androgens in men. It is now clear that the imbalance between estrogen and androgen in men might affect male reproductive function even in presence of normal circulating androgens. Some uncertainties still remain, especially regarding the impact of abnormal serum estrogen levels on male health, particularly due to the fact that estrogen is not routinely measured in men in clinical practice. Advancements in methods to precisely measure estrogens in men, together with a reduction of their costs, should provide better evidence on this issue and inform clinical practice. New basic and clinical research is required to improve our knowledge on the role of estrogen in male reproductive function and men’s health in general. For complete coverage of all related areas of Endocrinology, please see our online FREE web-book, www.endotext.org.


2016 - Fisiologia erezione, eiaculazione, orgasmo maschile. [Capitolo/Saggio]
Rochira, Vincenzo
abstract

The chapter deals with the hormonal factors involved in mechanisms of sexual desire, erectile function ejaculation, and orgasm in the human male.


2016 - Human chorionic gonadotropin stimulation gives evidence of differences in testicular steroidogenesis in Klinefelter syndrome, as assessed by liquid chromatography-tandem mass spectrometry [Articolo su rivista]
Belli, Serena; Santi, Daniele; Leoni, E; Dall'Olio, Enrico; Fanelli, F; Mezzullo, M; Pelusi, C; Roli, L; Tagliavini, Silvia; Trenti, T; Granata, A. R; Pagotto, U; Pasquali, R; Rochira, Vincenzo; Carani, Cesare; Simoni, Manuela
abstract

BACKGROUND: Men with Klinefelter syndrome (KS) show hypergonadotropic hypogonadism, but the pathogenesis of hypotestosteronemia remains unclear. Testicular steroidogenesis in KS men was evaluated over three decades ago after human chorionic gonadotropin (hCG) stimulation, but inconclusive results were obtained. Intriguingly, some recent studies show increased intratesticular testosterone concentrations in men with KS. OBJECTIVE: To analyze serum steroid profile, as a proxy of testicular steroidogenesis, after hCG stimulation in KS compared with control men. DESIGN: A prospective, longitudinal, case-control, clinical trial. METHODS: Thirteen KS patients (36±9 years) not receiving testosterone (TS) replacement therapy and 12 eugonadic controls (32±8 years) were enrolled. Serum steroids were measured by liquid chromatography-tandem mass spectrometry (LC-MS/MS) at baseline and for five consecutive days after intramuscular injection of 5000IU hCG. RESULTS: Progesterone (P), 17-hydroxyprogesterone (17OHP), TS, and estradiol (E2) showed a significant increase (P<0.001) after hCG stimulation in both groups. On the contrary, androstenedione (AS) and dehydroepiandrosterone did not increase after hCG stimulation. The 17OHP/P ratio increased in both groups (P<0.001), the TS/AS ratio (17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) activity) did not increase after hCG in any group, and the E2/TS ratio (aromatase activity) increased significantly in both groups (P=0.009 in KS and P<0.001 in controls). Luteinizing hormone decreased after hCG in both groups (P=0.014 in KS and P<0.001 in controls), whereas follicle-stimulating hormone decreased only in control men (P<0.001). CONCLUSION: This study demonstrates for the first time using LC-MS/MS that Leydig cells of KS men are able to respond to hCG stimulation and that the first steps of steroidogenesis are fully functional. However, the TS production in KS men is impaired, possibly related to reduced hydroxysteroid deydrogenase activity due to an unfavorable intratesticular metabolic state.


2016 - Is Testosterone (T) treatment safe and effective in men with HIV infection? A meta-analysis [Abstract in Rivista]
Santi, Daniele; Guaraldi, Giovanni; Corona, Giovanni; Rochira, Vincenzo
abstract

Background Prevalence of hypogonadism is high (30%) in men with HIV. In these patients T treatment (TT) is currently used mainly to counteract wasting syndrome and/or HIV-related lipodystrophy, irrespective of patients’ serum T. However, its effect and safety in HIV-infected men is still not completely known. Aim To investigate both beneficial and adverse effects related to TT in HIV-infected men using a meta-analytic approach. Methods An extensive MEDLINE search was performed using ‘PubMed’ with the following key-words: ‘HIV’ and: ’hypogonadism’, ‘TT’, ‘T’, ’androgens’ or ‘sex steroids’ from 1946 to April 2015. Meta-analysis included 19 placebo-controlled- clinical trials evaluating TT in HIV patients and was conducted according to PRISMA statement using RevMan. Results All 19 trials evaluated the effect of TT on body weight on a total of 952 subjects (TT group: 557; placebo group: 395). Patients’ gonadal status was often not reported and most of patients were presumably eugonadal. All data are shown as standardized mean and Confidence Interval (CI). TT significantly improved total lean body mass (1.44 [0.82–2.07], P!0.001), total body weight (0.99 [0.25–1.72], PZ0.008) and fat free mass (1.48 [0.85–2.12], P!0.001). This improvement is characterized by higher heterogeneity (I 2Z84%, 88%, and 60%, respectively). Conversely, no beneficial effects were seen on total fat mass (K0.17 [K1.58–1.25], PZ0.820). TT was associated with an increased incidence of minor adverse events (ORZ1.50[1.11–2.01], PZ0.008) and increased mean serum PSA (0.10 ng/mL, [0.03–0.17], PZ0.007). No change in hemoglobin (0.39 g/dL, [K0.29–1.07], PZ0.260) was seen. Conclusions Our study suggests that TT in HIV-infected men is effective in improving body composition (increase in lean body mass), although the incidence of general adverse events is higher than in the placebo group. However, studies show a highest variability and the real benefits of TT in HIV-infected men remains still to be established.


2016 - Is serum estradiol (E2) really increased in patients with Klinefelter Syndrome (KS)? Results from a meta-analysis study. [Abstract in Atti di Convegno]
Santi, Daniele; Scaltriti, Sara; Simoni, Manuela; Rochira, Vincenzo
abstract

BACKGROUND: KS has been classically described as characterized by hyperestrogenism and elevated serum E2 together with increased gonadotropins and low-to-normal serum testosterone (T). In literature, data on increased serum E2 are not solid. The aim of this study is to meta- analyse data from studies evaluating serum E2 in both KS and healthy subjects (HS) in order to verify if E2 is increased in KS. METHODS: An extensive MEDLINE was performed using ‘PubMed’ with the following key words: ‘KS’ and ‘E2’ or ‘T’ or ‘sex steroids’ from 1946 to January 2015 (Current Contents-ISI was used for searching oldest studies). All studies (case-control, case-series, case-reports) reporting E2 measurement were considered. Controlled-studies were used for meta-analysis. Only serum E2 at baseline (no ongoing treatments) was included. Meta-analysis was conducted according to the PRISMA statement using RevMan. RESULTS: Out of 956 articles, 26 case-control studies, 15 case-series and 21 case-reports had data on serum E2. A total of 878 KS and 1000 HS were included in the meta-analysis. Serum E2 was significantly higher in HS than in KS, with a mean difference of 7,93 pg/mL (CI: 2,24,13,61;p=0,006), with a chi-squared=688,32 (I-square=97%) (Figure 1). Serum T was significantly lower in KS than in HS, with a mean difference of -2,79 ng/mL (CI:-3,46,-2,11;p<0,001), with a chi-squared=198,29 (I-square=89%). Data from case-series and case-reports confirmed that E2 is not above the normal range in KS.CONCLUSIONS: Serum E2 is not increased in KS and is significantly lower than in HS in this meta-analysis. The limits of this study are the heterogeneity of methods for steroids measurement and the lack of studies having the comparison of serum E2 between KS and HS as primary endpoint. The traditional belief that KS is associated to elevated E2 should be reconsidered together with some pathophysiological and clinical issues.


2016 - Is serum estradiol (E2) really increased in patients with Klinefelter Syndrome (KS)? Results from a meta-analysisi study. [Abstract in Atti di Convegno]
Santi, Daniele; Scaltriti, Sara; Simoni, Manuela; Rochira, Vincenzo
abstract

Results from a meta-analysis on E2 in men with Klinefelter Syndrome


2016 - Italian association of clinical endocrinologists (AME) position statement: drug therapy of osteoporosis [Articolo su rivista]
Vescini, F.; Attanasio, R; Balestrieri, Antonio; Bandeira, F.; Bonadonna, S.; Camozzi, V.; Cassibba, S.; Cesareo, R.; Chiodini, I.; Francucci, C. Maria; Gianotti, L.; Grimaldi, F.; Guglielmi, R.; Madeo, Bruno; Marcocci, C.; Palermo, A.; Scillitani, A.; Vignali, E.; Rochira, Vincenzo; Zini, M.
abstract

Treatment of osteoporosis is aimed to prevent fragility fractures and to stabilize or increase bone mineral density. Several drugs with different efficacy and safety profiles are available. The long-term therapeutic strategy should be planned, and the initial treatment should be selected according to the individual site-specific fracture risk and the need to give the maximal protection when the fracture risk is highest (i.e. in the late life). The present consensus focused on the strategies for the treatment of postmenopausal osteoporosis taking into consideration all the drugs available for this purpose. A short revision of the literature about treatment of secondary osteoporosis due both to androgen deprivation therapy for prostate cancer and to aromatase inhibitors for breast cancer was also performed. Also premenopausal females and males with osteoporosis are frequently seen in endocrine settings. Finally particular attention was paid to the tailoring of treatment as well as to its duration.


2016 - Psychological, rather than organic and/or relational components are involved in sexual dysfunction in Young/Middle Aged Human immunodeficiency virus (HIV)-Infected Men. [Abstract in Atti di Convegno]
Decaroli, MARIA CHIARA; De Vincentis, Sara; Diazzi, Chiara; Zona, Stefano; Guaraldi, Giovanni; Santi, Daniele; Rochira, Vincenzo
abstract

BACKGROUND: HIV-infection is associated to an increased prevalence of erectile dysfunction (ED)1,2. In HIV- infected men ED seems to be less related to serum Testosterone (T)2-4, ED and sexual dysfunction mainly depending from other factors1,2. However, data on other components of sexual dysfunction in HIV are scanty2. AIM: To investigate the role of different components (organic, relational, psychological) of erectile function by using different validate questionnaire in HIV-infected men with normal serum T who are mainly homosexual (70%). METHODOLOGY: Prospective, cross-sectional, observational study on 225 eugonadal, HIV-infected male patients with ongoing Highly Active Antiretroviral Therapy (HAART) attending the Clinic of Infectious Diseases. The International Index of Erectile Function (IIEF)-15, IIEF-5 and Structured Interview for Erectile Dysfunction (SIEDY) were used for the evaluation of sexual function. Moreover, the sexual desire was further evaluated using a direct question during the visit. Statistical analysis: comparison of continue variables among groups was performed using Kruskal-Wallis test and Dunnet test for post-hoc analyses. RESULTS: 225 HIV-infected patients were enrolled (mean age 45.19±5.36 years) with average duration of HIV- infection and of HAART treatment of 187.62±101.71 and 156.38+89.81 months, respectively. Table 1 summarizes the score obtained in each item evaluated by questionnaires.The SIEDY scores obtained at appendix and scale 3 were significantly higher in patients with ED at IIEF-15 (n=136, 60.4%) compared with those without ED (appendix: 7.64+4.39 vs 4.35+3-14, p&lt;0.001) (scale 3: 2.72+4.39 vs 2.07+1.86, p=0.015). Conversely, scale 1 (2.76+2.16 vs 2.46+2.10, p=0.448) and 2 (0.53+1.02 vs 0.61+1.47, p=0.503) of SIEDY did not differ between patients with or without ED. This suggests that the psychological basis of ED was predominant in HIV-infected men. However, when patients were grouped according to the severity of ED at IIEF-15 all SIEDY items did not differ among the 3 groups (p&gt;0.05). The erectile function domain at IIEF-15 was directly correlated with IIEF-5 score (0.778, p&lt;0.001). Similarly, the score at SIEDY appendix was significantly different among the ED degree found at IIEF-15 (p&lt;0.001). In particular, lower score was found in HIV-infected men without ED compared to those with mild, moderate and severe ED (p&lt;0.001, p=0.001, and p&lt;0.001, respectively), confirming the reliability of these tools. Sexual desire was evaluated using IIEF-15 appropriate domain and during the interview through direct question performed by the clinician. Sexual desire was impaired in 73 patients (31.33%) at interview with a good correlation with the item of IIEF-15 on sexual desire (p&lt;0.001). CONCLUSIONS: The psychological component of ED impacts in a significant manner on ED in men with HIV. Despite the high prevalence of comorbidities in these patients the organic component does not affect erectile function. Similarly, the relational component seems to play a not significant role probably because of the high percentage of men not in a stable relationship. All the three validated questionnaires well describe the degree of erectile dysfunction, with a good correlation index, suggesting that they are all reliable and accurate for the diagnosis of ED in this peculiar population. REFERENCES 1Zona S et al. Erectile dysfunction is more common in young to middle-aged HIV-infected men than in HIV-uninfected men. J Sex Med. 2012 Jul;9(7):1923-30. 2Santi D et al. Male sexual dysfunction and HIV--a clinical perspective. Nat Rev Urol. 2014 Feb;11(2):99-109. 3Rochira V et al. Premature decline of serum total testosterone in HIV-infected men in the HAART-era. PLoS One. 2011;6(12):e28512. 4Rochira V &amp; Guaraldi G. Hypogonadism in the HIV-infected man. Endocrinol Metab Clin North Am. 2014 Sep;43(3):709-30.


2016 - Serum Calcium to Phosphorous Ratio (Ca/P) As a Simple, Inexpensive Screening Tool in the Diagnosis of Primary Hyperparathyroidism (PHPT) [Abstract in Rivista]
Madeo, Bruno; Kara, Elda; Cion, K.; Vezzani, Silvia; Simoni, Manuela; Rochira, Vincenzo
abstract

Background: PHPT is the third most common endocrine disease, but it remains often overlooked and underdiagnosed. Several strategies, including biochemical markers used alone or combined in complex algorithms, have been investigated in the past with the aim to identify tools useful to easily diagnose or screen PHPT. At present, however, the diagnosis of PHPT remains challenging, especially in asymptomatic patients. As serum calcium (Ca) and phosphorous (P) are inversely related in PHPT, the Ca/P ratio might be considered a good candidate tool in the diagnosis of PHPT. Surprisingly, no data on Ca/P ratio are available in literature, despite they are very simple biochemical measurements largely available in any clinical laboratory setting. The aim of this study is to investigate the diagnostic value of the Ca/P ratio in the diagnosis of PHPT. Material and Methods: Data retrospectively obtained from review charts of 97 patients with documented PHPT (69 females; 28 males) were compared with those of 96 controls (C) (44 females; 52 males). Exclusion criteria: age <18yrs, severe chronic diseases, cancer, bone metabolic diseases, use of medications affecting serum Ca. Biochemical measurements included PTH, Vitamin D (LIASON, XL, Diasorin device), serum Ca, P, albumin, and creatinine (AU 680 Beckman device). Normal ranges were 15-88 pg/mL, 8.5-11, and 2.5-5.1 mg/dl for PTH, Ca, and P, respectively. SPSS 19.0 and SigmaPlot 11.0 were used for statistical analyses for group comparisons, ROC curves and cutoffs performance. Results: Among PHPT patients, 16 (17%) had severe hypercalcemia (>12 mg/dL), 44 (45%) mild hypercalcemia, and 36 (38%) normocalcemic PHPT (NCHPT). Ca was significantly higher in PHPT (median: 11; min-max: 9.4-15.5) than C (9.4;8.3-10.2) (p<0.0001). P was significantly lower in PHPT (2.4;1.4-3.9) than in C (3.5;2.1-4.5) (p<0.0001). PTH was significantly higher in PHPT (135.2;57.6-1748) than in C (32.1;14-106.1) (p<0.0001). Ca/P ratio was significantly higher in PHPT than in C. ROC curves analyses identified a cutoff of 3.5 for both Ca/P ratio and Ca/P ratio obtained by using Ca corrected by albumin. The sensitivity and specificity were 86% and 87%, respectively for Ca/P ratio and 89% and 93%, respectively for corrected Ca/P ratio (p<0.0001).The diagnostic value of Ca/P ratio was significantly better if compared with PTH and Ca used alone or in combination. Conclusions: Ca/P ratio is a valuable highly sensitive, highly specific tool for the diagnosis of PHPT. Considering that Ca/P is simple to obtain, easily accessible in every clinical and laboratory setting worldwide, and inexpensive even when used in large sample size of patients, this diagnostic tool could be useful for screening PHPT, especially in patients accessing emergency rooms or in the general practitioner setting. - See more at: http://press.endocrine.org/doi/abs/10.1210/endo-meetings.2016.BCHVD.9.PP26-4#sthash.Onic06Oc.dpuf


2016 - Serum calcium to phosphorous ratio (Ca/P) as a simple, inexpensive screening tool in the diagnosis of primary hyperparathyroidism (PHPT) [Abstract in Rivista]
Madeo, Bruno; Kara, Elda; Cioni, Katia; Vezzani, Silvia; Simoni, Manuela; Rochira, Vincenzo
abstract

Background PHPT is often overlooked/underdiagnosed. Several strategies (biochemical markers alone or combined in complex algorithms) have been investigated to easily diagnose/screen PHPT, but PHPT diagnosis remains challenging at present, especially in asymptomatic patients. As serum calcium (Ca) and phosphorous (P) are inversely related in PHPT, the Ca/P ratio could be a good candidate tool for PHPT diagnosis. Surprisingly, no literature data on Ca/P ratio are available, despite they are very simple biochemical measurements largely available in any clinical lab setting. Aim To investigate the Ca/P ratio diagnostic value in the diagnosis of PHPT. Methods Data retrospectively obtained from review charts of 97 patients with documented PHPT (69 females; 28 males) [16 (17%) with severe hypercalcemia (O12 mg/dl); 44 (45%) mild hypercalcemia, 36 (38%) normocalcemic PHPT (NCHPT)] were compared with those of 96 controls (C) (44 females; 52 males). Exclusion criteria: age !18 years, severe chronic diseases, cancer, bone metabolic diseases, use of medications affecting serum Ca. Biochemical measurements: PTH, Vitamin D, serum Ca, P, albumin, and creatinine. Normal ranges: PTH (15–88 pg/ml), Ca (8.5–11 mg/dl), P (2.5–5.1 mg/dl). SPSS 19.0 and SigmaPlot 11.0 were used for statistics (group comparisons, ROC curves, cutoffs performance). Results Ca and PTH were significantly higher in PHPT [(Ca median:11; min-max:9.4– 15.5); (PTH 135.2; 57.6–1748)] than C [(Ca 9.4; 8.3–10.2); (PTH 32.1; 14–106.1) (P!0.0001). P was significantly lower in PHPT (2.4; 1.4–3.9) than in C (3.5; 2.1– 4.5) (P!0.0001). Ca/P ratio was significantly higher in PHPT than in C. ROC curves analyses identified a cutoff of 3.5 for both Ca/P ratio and Ca/P ratio obtained by using albumin corrected-Ca. The sensitivity and specificity were 86 and 87%, respectively for Ca/P ratio and 89 and 93%, respectively for corrected Ca/P ratio (P!0.0001). The diagnostic value of Ca/P ratio performed better than PTH and Ca used alone or in combination. Conclusions Ca/P ratio is a valuable highly sensitive, highly specific tool for the diagnosis of PHPT. Since Ca/P is simple to obtain, easily accessible in every clinical and lab setting worldwide, and inexpensive even when used in large sample size of patients, this diagnostic tool could be useful for screening PHPT, especially in patients accessing emergency rooms or in the general practitioner setting.


2016 - Serum total estradiol, but not testosterone is associated with reduced bone mineral density (BMD) in HIV-infected men: a cross-sectional, observational study [Articolo su rivista]
Santi, Daniele; Madeo, Bruno; Carli, Federica; Zona, Stefano; Brigante, Giulia; Vescini, F.; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

By investigating the relationship between serum testosterone, estradiol, and bone mineral density (BMD) in a large cohort of HIV-infected men, estradiol was associated with BMD, relative estrogen deficiency being involved in bone loss in men with hypogonadism, in addition to all HIV-related factors. Increased aromatization in adipose tissue does not counteract HIV-related bone loss. INTRODUCTION: The purpose of this study is to evaluate the relationship between serum testosterone, estradiol, and BMD in a large cohort of HIV-infected men. METHODS: We investigated biochemical, hormonal parameters, and BMD in 1204 HIV-infected men (age 45.64 ± 7.33 years) participating in a cross-sectional, observational study. Among other parameters, the main outcome measures were serum total testosterone and estradiol, gonadotropins, 25-hydroxyvitamin D [25(OH)D], parathormone (PTH), calcium, phosphorous, femoral, and lumbar BMD. RESULTS: In men with HIV, the prevalence of osteoporosis and osteopenia is 15.1 and 63.2 % with 25(OH)D insufficiency being very common (60.1 %). After age adjustment, BMD is positively associated with estradiol, but not testosterone, at linear (p < 0.001) and stepwise (p < 0.05) multiple regression. Lumbar BMD significantly increases across the estradiol quartiles but not among testosterone quartiles. Femoral and lumbar BMD are significantly higher in men with estradiol ≥ 27 pg/mL than in those with estradiol <27 pg/mL. Apart from estradiol, only age, calcium, and BMI predict BMD at stepwise linear multiple regression, but the strength of this association is weak. CONCLUSIONS: Estradiol, but not testosterone, is associated with BMD in HIV-infected men and exerts a protective role on bone especially when it is above 27 pg/mL. Relative estrogen deficiency is a potential mechanism involved in bone loss in hypogonadal HIV-infected men, in addition to all HIV-related factors. Increased aromatization in adipose tissue does not counteract HIV-related bone loss. Finally, reduced BMD in young-to-middle-aged HIV-infected men might be considered a peculiar hallmark of HIV infection due to its relevant prevalence, representing one of the several pieces composing the complicated puzzle of premature aging related to HIV infection.


2016 - Six months of daily treatment with Vardenafil improves parameters of endothelial inflammation and of hypogonadism in male patients with type 2 diabetes and erectile dysfunction: a randomized, double-blind, prospective trial. [Articolo su rivista]
Santi, Daniele; Granata, Ar; Guidi, Alessandro; Pignatti, Elisa; Trenti, T; Roli, L; Bozic, R; Zaza, S; Pacchioni, C; Romano, S; Nofer, Jr; Rochira, Vincenzo; Carani, Cesare; Simoni, Manuela
abstract

Abstract OBJECTIVE: Type 2 diabetes mellitus (T2DM) is associated with endothelial dysfunction, characterized by a reduction of nitric oxide (NO)-mediated relaxation. Phosphodiesterase-5 inhibitors (PDE5i) improve NO levels. The aim of the study is to investigate whether long-term, chronic treatment with the PDE5i Vardenafil improves systemic endothelial function in diabetic men. DESIGN: Prospective, investigator-initiated, randomized, placebo-controlled, double-blind, clinical-trial. METHODS: 54 male patients affected by T2DM, diagnosed within the last 5 years, and erectile dysfunction were enrolled, regardless of testosterone (T) levels. 26 and 28 patients were assigned to verum and placebo-group, respectively. The study consisted of an enrolment phase, a treatment phase (24weeks) (Vardenafil/placebo 10mg twice-daily), and a follow-up phase (24weeks). Parameters evaluated: International Index of Erectile Function (IIEF)-15, flow mediated dilation (FMD), serum interleukin (IL)-6, endothelin (ET)-1, gonadotropins and T (measured by liquid-chromatography/tandem mass-spectrometry). RESULTS: IIEF-15 erectile function improved during treatment (p&lt;0.001). At the end of the treatment both FMD (p=0.040) and IL-6 (p=0.019) significantly improved. FMD correlated with serum T levels (R2=0.299, p&lt;0.001). T increased significantly under Vardenafil treatment and returned in the eugonadal range only in hypogonadal men (n=13), without changes in gonadotropins. Chronic Vardenafil treatment did not result in relevant side effects. CONCLUSIONS: This is the first double-blind, placebo-controlled clinical-trial designed to evaluate the effects of chronic treatment of Vardenafil on endothelial health-related parameters and sexual hormones in patients affected by a chronic disease. Chronically administered Vardenafil is effective and improves endothelial parameters in T2DM patient. Moreover, chronic Vardenafil therapy improves hypogonadism in diabetic, hypogonadal men.


2016 - Testosterone (T) is poorly related to Erectile Dysfunction (ED) in Young/Middle Aged Human immunodeficiency virus (HIV)-Infected Men. [Abstract in Atti di Convegno]
De Vincentis, Sara; Santi, Daniele; Decaroli, MARIA CHIARA; Fanelli, F.; Mezzullo, M.; Ansaloni, Anna; Pagotto, U.; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

BACKGROUND: HIV infection is strongly associated to ED in men1,2. Preliminary data suggests that ED is poorly associated with serum T in HIV+ men1,3-4. AIM: To investigate the relationship between sexual function as assessed by the validated International Index of Erectile Function (IIEF-15) and T deficiency in HIV-infected men by assessing circulating T by Liquid Chromatography tandem Mass Spectrometry (LC-MS/MS). METHODOLOGY: Prospective, cross-sectional, observational study on 233 consecutive HIV-infected male patients with ongoing Highly Active Antiretroviral Therapy (HAART), attending the Clinic of Infectious Diseases. IIEF-15 questionnaire was used to define patients having ED (score <25), IIEF-5 was performed to check if it is reliable as IIEF-15 in this setting, while LC-MS/MS was used for hormonal assays. Statistical analysis: Continuous and categorical variables were compared using ANOVA univariate and Chi-Square test, respectively. Correlations were performed using Spearman’s Rho coefficient. RESULTS: 233 HIV-infected patients were enrolled (mean age 45.29±5.33 years) with average duration of HIV-infection of 195.98±129.54 months. Eight patients (3.4%) had hypogonadism, defined as total T serum levels below 300 ng/dL. 142 patients (61.5%) had ED (EF score ≤25) (Table 1). Age, hormonal data and duration of HIV infection and HAART did not differ among groups of patients according to the degree of ED (Table 1). Although no differences were seen among categories, the direct comparison of each ED cluster showed that months of infection were significantly higher in men with severe ED compared to mild ED (p=0.037); moreover, men with severe ED had lower T levels than men with mild form (p=0.029). All hypogonadal men had erectile dysfunction (p=0.020). However, no differences were found among ED degree for hypogonadal men (p=0.151). The erectile function domain at IIEF-15 was directly correlated with IIEF-5 score (0.778, p<0.001), as expected. Moreover, the IIEF-15 score was inversely related to months of infection (-0.147, p=0.026) (Figure 1), but not to months of HAART therapy (-0.121, p=0.071). Total T showed an inverse relation with months of infection (-0.172, p=0.009) (Figure 1) and months of HAART (-0.173, p=0.010), but not with IIEF-15 score (0.039; p=0.559). CONCLUSIONS: To the best of our knowledge, this is the first, properly-designed prospective study aiming to investigate the relationship between erectile function and serum T, assessed using the LC-MS/MS in HIV-infected men. Similarly to the IIEF-15, the IIEF-5 recognize ED patients and the scores of both correlates each other. In our cohort, the prevalence of ED and hypogonadism was 61% and 3.4%, respectively. Thus, ED evaluated by IIEF-15 seems to be not directly related to serum total T, but it correlates with age and months of infection. In conclusion, in HIV-infected patients a) IIEF-5 is reliable as IIEF- 15 for ED diagnosis, b) ED is not associated with serum T, c) erectile function is not influenced by T and HAART, but only by HIV-infection duration. In conclusion, several specific factors, such as the duration of HIV infection, are involved in erectile function in HIV-infected men and should be carefully considered in this setting, while hormonal status seems to be less important.


2016 - Will steroid measurements affect the outcomes of clinical trials? Comparison between immunoassayand mass spectrometry in men with Kinefelter Syndrome undergoing human corionic gonadotropin stimulation test. [Abstract in Atti di Convegno]
Santi, Daniele; Roli, L.; Belli, Serena; Tagliavini, Silvia; Cavalieri, Silvia; De Santis, M. C.; Baraldi, Enrica; Fanelli, F.; Mezzullo, M.; Granata, A. R.; Pagotto, U.; Pasquali, R.; Rochira, Vincenzo; Carani, Cesare; Trenti, T.; Simoni, Manuela
abstract

The abstract deal with the comparison between immunoassayand mass spectrometry in measuring sex steroids in men with Kinefelter Syndrome


2015 - Characteristics and outcomes of Italian patients from the observational, multicentre, hypopituitary control and complications study (HypoCCS) according to tertiles of growth hormone peak concentration following stimulation testing at study entry [Articolo su rivista]
Losa, Marco; Beck Peccoz, Paolo; Aimaretti, Gianluca; Di Somma, Carolina; Ambrosio, Maria Rosaria; Ferone, Diego; Giampietro, Antonella; Corsello, Salvatore M.; Poggi, Maurizio; Scaroni, Carla; Jia, Nan; Mossetto, Gilberto; Cannavò, Salvatore; Rochira, Vincenzo
abstract

Objective To determine whether characteristics and outcomes of Italian patients in the observational global Hypopituitary Control and Complication Study (HypoCCS) differed according to the degree of GH deficiency (GHD). Design Patients were grouped by tertiles of stimulated GH peak concentration at baseline (Group A lowest tertile, n = 342; Group B middle tertile, n = 345; Group C highest tertile, n = 338). Results Baseline demographics, lipid levels, body mass index categories and mean Framingham cardiovascular risk indexes were similar in the three groups and remained substantially unchanged over time, with no subsequent significant between-group differences (except mean levels of triglycerides increased in the highest tertile group). GHD was adult-onset for >75% of patients in all groups. The percentage of patients with multiple pituitary deficiencies was higher in Group A than in the other groups; isolated GHD was reported with highest frequency in Group C. Patients in Group A received the lowest mean starting dose of GH. Hyperlipidaemia at baseline was reported in 35·1%, 31·1% and 24·7% of patients in groups A, B and C, respectively (P = 0·029). Mean duration of GH treatment was 7·21, 5·45 and 4·96 years, respectively. The proportion of patients with adverse events did not differ significantly between groups, with a low prevalence over time of diabetes and cancer. Conclusions In Italian patients from HypoCCS, the level of GH deficit did not influence changes over time in metabolic parameters or adverse event profile, despite differences in GHD severity at baseline and in the starting GH dose.


2015 - ERECTILE DYSFUNCTION IS COMMON AMONG MEN WITH ACROMEGALY AND IS ASSOCIATED WITH MORBIDITIES RELATED TO THE DISEASE [Abstract in Atti di Convegno]
Lotti, F.; Rochira, Vincenzo; Pivonello, R.; Santi, Daniele; Galdiero, M.; Maseroli, E.; Balestrieri, Antonio; FAUSTINI FUSTINI, Marco; Peri, A.; Sforza, A.; Colao, A.; Maggi, M.; Corona, G.
abstract

Introduction: The prevalence of erectile dysfunction (ED) and its correlates in men with acromegaly has never been investigated. The aim of this study is to evaluate sexual function in acromegalic men. Methods: Multicenter-based, retrospective analysis of a non-selected series of 57 acromegalic subjects (mean age: 52.7±14.2 years) was performed. Patients were interviewed using SIEDY structured interview, a 13-item tool for the assessment of ED-related morbidities. Several clinical and biochemical parameters were taken. Penile colour-Doppler ultrasound (PCDU) was performed in a subgroup of 37 acromegalic subjects. Acromegalic subjects reporting ED (n=24) were compared with matched ED-patients without acromegaly or pituitary disease (controls), selected from a cohort of more than 4000 subjects enrolled in the Florence Sexual Medicine and Andrology Unit. Results: ED was reported by 42.1% of acromegalic subjects. After adjusting for age and testosterone, acromegalic subjects with ED had a higher prevalence of hypertension and impairment of sleep-related erections and a longer smoking habit. Accordingly, acromegaly-associated ED was characterized by a higher organic component and worse PCDU parameters. No relationship between ED and testosterone levels or other acromegaly-related parameters was found. However, acromegalic subjects with severe ED reported a longer disease duration. In a case- control analysis, comparing acromegalic subjects with ED-matched-controls free from acromegaly (1:5 ratio), acromegalic men had a worse ED problem and a higher organic component of ED, as derived from SIEDY score. In line with these data, acromegalic patients with ED had a higher prevalence of major adverse cardiovascular events (MACE) history at enrolment and lower PCDU parameters. Conclusions: Subjects with complicated acromegaly are at an increased risk of developing ED, especially those with cardiovascular morbidities. Our data suggest including a sexual function evaluation in routine acromegaly follow-up.


2015 - Erectile dysfunction is common among men with acromegaly and is associated with morbidities related to the disease [Articolo su rivista]
Lotti, F; Rochira, Vincenzo; Pivonello, R; Santi, Daniele; Galdiero, M; Maseroli, E; Balestrieri, A; Faustini Fustini, M; Peri, A; Sforza, A; Colao, A; Maggi, M; Corona, G.
abstract

INTRODUCTION.The prevalence of erectile dysfunction (ED) and its correlates in men with acromegaly has never been investigated. AIM: The aim of this study was to evaluate sexual function in men with acromegaly. METHODS: Multicenter-based, retrospective analysis of a nonselected series of 57 acromegalic subjects (mean age: 52.7 ± 14.2 years) was performed. Acromegalic subjects reporting ED (n = 24) were compared with matched ED patients without acromegaly or pituitary disease (controls), selected from a cohort of more than 4,000 subjects enrolled in the Florence Sexual Medicine and Andrology Unit. MAIN OUTCOME MEASURES: Patients were interviewed using Structured Interview on Erectile Dysfunction (SIEDY) structured interview, a 13-item tool for the assessment of ED-related morbidities. Several clinical and biochemical parameters were taken. Penile color Doppler ultrasound (PCDU) was performed in a subgroup of 37 acromegalic subjects. RESULTS: ED was reported by 42.1% of acromegalic subjects. After adjusting for age and testosterone, acromegalic subjects with ED had a higher prevalence of hypertension and more often reported an impairment of sleep-related erections and a longer smoking habit. Accordingly, acromegaly-associated ED was characterized by a higher organic component and worse PCDU parameters. No relationship between ED and testosterone levels or other acromegaly-related parameters was found. However, acromegalic subjects with severe ED reported a longer disease duration. In a case-control analysis, comparing acromegalic subjects with ED-matched controls free from acromegaly (1:5 ratio), acromegalic men had a worse ED problem and a higher organic component of ED, as derived from SIEDY score. In line with these data, acromegalic patients with ED had a higher prevalence of major adverse cardiovascular events history at enrollment and lower PCDU parameters. CONCLUSIONS: Subjects with complicated acromegaly are at an increased risk of developing ED, especially those with cardiovascular morbidities. Our data suggest including a sexual function evaluation in routine acromegaly follow-up.


2015 - High-Resolution Melting is a sensitive, cost-effective, time-saving technique for BRAF V600E detection in thyroid FNAB washing fluid: a prospective cohort study [Articolo su rivista]
Marino, Marco; Monzani, Maria Laura; Brigante, Giulia; Cioni, Katia; Madeo, Bruno; Santi, Daniele; Maiorana, Antonino; Bettelli, Stefania Raffaella; Moriondo, Valeria; Pignatti, Elisa; Bonacini, Lara; Carani, Cesare; Rochira, Vincenzo; Simoni, Manuela
abstract

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2015 - IS SERUM ESTRADIOL (E2) REALLY INCREASED IN PATIENTS WITH KLINEFELER SYNDROME (KS)? RESULTS FROM A META-ANALYSIS STUDY [Abstract in Atti di Convegno]
Santi, Daniele; Scaltriti, Sara; Rochira, Vincenzo
abstract

INTRODUCTION: KS has been classically described as characterized by hyperestrogenism and elevated serum E2 together with increased gonadotropins and low-to-normal serum testosterone (T). In literature, data on increased serum E2 are not solid. AIM: The aim of this study is to meta-analyse data from studies evaluating serum E2 in both KS and healthy subjects (HS) in order to verify if E2 is increased in KS. METHODS: An extensive MEDLINE was performed using ‘PubMed’ with the following key words: ‘KS’ and ‘E2’ or ‘T’ or ‘sex steroids’ from 1946 to January 2015 (Current Contents-ISI was used for searching oldest studies). All studies (case-control, case- series, case-reports) reporting E2 measurement were considered. Controlled-studies were used for meta-analysis, the others only for reviews. Only serum E2 at baseline (no ongoing treatments) was included. Meta-analysis was conducted according to the PRISMA statement using RevMan. RESULTS: Out of 956 articles, 26 case-control studies, 15 case-series and 21 case- reports had data on serum E2. A total of 878 KS and 1000 HS were included in the meta-analysis. Serum E2 was significantly higher in HS than in KS, with a mean difference of 7,93 pg/mL (CI:2,24,13,61;p=0,006), with a chi-squared=688,32 (I- square=97%). Serum T was significantly lower in KS than in HS, with a mean difference of -2,79 ng/mL (CI:-3,46,-2,11;p<0,001), with a chi-squared=198,29 (I- square=89%). Data from case-series and case-reports confirmed that E2 is not above the normal range in KS. CONCLUSIONS: Serum E2 is not increased in KS and is significantly lower than in HS in this meta-analysis. The limits of this study are the heterogeneity of methods for steroids measurement and the lack of studies having the comparison of serum E2 between KS and HS as primary endpoint. The traditional belief that KS is associated to elevated E2 should be reconsidered together with some pathophysiological and clinical issues.


2015 - Is serum estradiol really increased in patients with Klinefeler syndrome? Results from a meta-analysis study. [Abstract in Rivista]
Santi, Daniele; Scaltriti, Sara; Rochira, Vincenzo
abstract

Background and aim KS has been classically described as characterized by hyperestrogenism and elevated serum E2 together with increased gonadotropins and low-to-normal serum testosterone (T). In literature, data on increased serum E2 are not solid. The aim of this study is to meta-analyse data from studies evaluating serum E2 in both KS and healthy subjects (HS) in order to verify if E2 is increased in KS. Methods An extensive MEDLINE was performed using ‘PubMed’ with the following key words: ‘KS’ and ‘E2’ or ‘T’ or ‘sex steroids’ from 1946 to January 2015 (current contents-ISI was used for searching oldest studies). All studies (case–control, case–series, case–reports) reporting E2 measurement were considered. Con- trolled–studies were used for meta-analysis, the others only for reviews. Only serum E2 at baseline (no ongoing treatments) was included. Meta-analysis was conducted according to the PRISMA statement using RevMan. Results Out of 956 articles, 26 case–control studies, 15 case–series and 21 case–reports had data on serum E2. A total of 878 KS and 1000 HS were included in the meta- analysis. Serum E2 was significantly higher in HS than in KS, with a mean difference of 7.93pg/ml (CI: 2.24, 13.61; PZ0.006), with a c2Z688.32 (I-squareZ97%). Serum T was significantly lower in KS than in HS, with a mean difference of K2.79 ng/ml (CI:K3,46,K2,11; P!0.001), with a c2Z198,29 (I-squareZ89%). Data from case–series and case–reports confirmed that E2 is not above the normal range in KS. Conclusions Serum E2 is not increased in KS and is significantly lower than in HS in this meta- analysis. The limits of this study are the heterogeneity of methods for steroids measurement and the lack of studies having the comparison of serum E2 between KS and HS as primary endpoint. The traditional belief that KS is associated to elevated E2 should be reconsidered together with some pathophysiological and clinical issues.


2015 - L'acromegalia: una ricerca in Emilia Romagna [Relazione in Atti di Convegno]
Rochira, Vincenzo
abstract

Descrizione di un progetto di Registro Regionale dell'acromegalia: materiali e metodi e stato dell'arte del progetto


2015 - Low testosterone is associated with poor health status in men with human immunodeficiency virus infection: a retrospective study [Articolo su rivista]
Rochira, Vincenzo; Diazzi, Chiara; Santi, Daniele; Brigante, Giulia; Ansaloni, Anna; Decaroli, Maria Chiara; De Vincentis, Sara; Stentarelli, Chiara; Zona, Stefano; Guaraldi, Giovanni
abstract

Men with human immunodeficiency virus (HIV) infection are often hypogonadal and develop several HIV-associated non-acquired immunodeficiency syndrome (AIDS) (HANA) conditions that impair overall health status. No studies explored the relationship between health status and serum testosterone (T) in HIV-infected men. This study aims to investigate the association between total serum T and HANA, multimorbidity, and frailty in a large cohort of 1359 HIV-infected men and to explore the relationship between patients' overall health status and serum T. Among biochemical and hormonal measurement performed the main are serum total T, free triiodothyronine (fT3), and luteinizing hormone. Other outcome measurements include anthropometry, assessment of comorbidities and disabilities, overall health status defined as the number of HANA and by the 38-item multimorbidity frailty index, anthropometry, and bone mineral density. The cumulative relative risk of comorbidities is increased in HIV-infected men with hypogonadism (p < 0.001) and hypogonadism is associated with several comorbidities. The prevalence of hypogonadism increases progressively with the increase of the number of comorbidities. Frailty index is inversely related to serum total T (age-adjusted r = 0.298, r(2) = 0.089, p < 0.0001). Serum fT3 levels are significantly lower in hypogonadal than eugonadal men (p = 0.022). This suggests that low serum T could be considered a sensitive marker of frailty and poor health status and that the latter might induce hypogonadism. The more HIV-infected men are frail the more they are hypogonadal. This suggests that hypogonadism might be a naturally occurring condition in unhealthy HIV-infected men and raises concern about the safety of T treatment. In conclusion, low serum T is associated with multimorbidity, HANA, and frailty in HIV-infected men and this association seems to be bidirectional. Given the wide attitude to offer T treatment to HIV-infected men, caution is needed when prescribing T to HIV-infected male patients, especially if the patient is unhealthy or frail.


2015 - Primary hypoparathyroidism is common in adult patients with b-thalassemia and protect patients from osteoporosis. [Abstract in Rivista]
Ansaloni, Anna; Ferrara, F.; Diazzi, Chiara; Pietrangelo, Antonello; Simoni, Manuela; Rochira, Vincenzo
abstract

Introduction b-thalassemia (bT) is associated to several endocrine abnormalities mainly due to iron overload. With the increase in bT-patients life expectancy, due to progresses in iron chelation therapy, more patients enter into adulthood than in the past and the prevalence of endocrine diseases is being reconsidered. The aim of the study is to investigate the prevalence of primary hypoparathyroidism (pHPT) in adult bT-patients and to characterize the relative clinical phenotype with particular regard to bone health. Methods We enrolled 26 adult patients with major or intermedia bT (12M and 14F; mean ageGS.D. of 38.1G7.5 years). Serum PTH, 25-hydroxyvitamin D (25OHD), calcium, phosphorous, albumin, bone turnover markers, and bone mineral density (BMD) by dual-energy X-ray absorptiometry (Hologic) at lumbar and femoral site were measured. Results pHPT (PTH !15 pg/ml) was found in seven of the 26 patients (27%). Of them, four patients (57%) had hypocalcemia and two were on chronic calcium therapy. Lumbar BMD was significantly higher in patients with pHPT (0.884G 0.189 g/cm2) than in patients without pHPT (0.731G0.124 g/cm2) (PZ0.023). No significant difference was found in femoral BMD, even though a trend for higher BMD was present in pHPT (0.704G0.117 vs 0.670G0.143 g/cm2 in pHPT and no-pHPT respectively) (PZ0.578). The prevalence of osteoporosis was higher in patients without pHPT (68%) than in patients with pHPT (29%). Two patients had a history of bone osteoporotic fractures and both of them did not present pHPT. Bone turnover markers were no different in the two groups. Conclusions The prevalence of pHPT in adult bT-patients is higher if compared to that observed in pediatric bT-patients, the latter ranging from 8 to 11%. Moreover we found an higher prevalence of pHPT compared to that reported in literature on adult bT patients. As expected, pHPT seems to exert a protective role on the development of osteoporosis in these patients.


2015 - Serum gonadotropins secretion is not reduced with advancing age in HIV-infected females: results of a case–control study in menopausal women. [Abstract in Rivista]
Diazzi, Chiara; Brigante, Giulia; Guaraldi, Giovanni; Simoni, Manuela; Rochira, Vincenzo
abstract

Introduction HIV infection treated with highly active antiretroviral therapy (HAART) seems to be associated with hypogonadism in men. Less is known in HIV-infected women gonadal status. The aim of this study is to investigate gonadal function, in menopausal HIV-infected women compared sex- and age-matched healthy subjects (HS). Methods We retrospectively compared 188 HIV-infected women with 192 HS selected reviewing record charts and laboratory database respectively. We considered only women older than 50 years and we grouped them according to their age (50–54; 55–59; and O60 years). Basal serum LH, FSH, estradiol, and testosterone were measured. The FSH cut-off of 40 UI/l for establishing menopausal status. Results The percentage of subjects with FSH levels O40 UI/l was higher in HIV-infected women (67.5%) than in healthy controls (59.4%). This difference was found also in the younger subgroup (38% vs 27%). FSH serum levels in HIV-infected women (54.08G31.47 mUI/ml) did not differ (PZ0.27) from HS (50.87G 31 mUI/ml). Accordingly, no significant differences were found in LH, estradiol, and testosterone levels. Conclusions Menopause seems to occur at a younger age than HS in HIV-infected women. Moreover, differently from what was documented in HIV-infected male counterpart, HIV-infected women seem to not develop hypogonadotropic hypogonadism, but have a tendency to higher serum FSH at a younger age (!54 years) suggesting premature hypergonadotropic hypogonadism. With this in view menopause may be considered an element of the process of premature aging associated with HIV infection and its comorbidities.


2015 - The endocrine role of estrogens on human male skeleton [Articolo su rivista]
Rochira, Vincenzo; Kara, Elda; Carani, C.
abstract

Before the characterization of human and animal models of estrogen deficiency, estrogen action was confined in the context of the female bone. These interesting models uncovered a wide spectrum of unexpected estrogen actions on bone in males, allowing the formulation of an estrogen-centric theory useful to explain how sex steroids act on bone in men. Most of the principal physiological events that take place in the developing and mature male bone are now considered to be under the control of estrogen. Estrogen determines the acceleration of bone elongation at puberty, epiphyseal closure, harmonic skeletal proportions, the achievement of peak bone mass, and the maintenance of bone mass. Furthermore, it seems to crosstalk with androgen even in the determination of bone size, a more androgen-dependent phenomenon. At puberty, epiphyseal closure and growth arrest occur when a critical number of estrogens is reached. The same mechanism based on a critical threshold of serum estradiol seems to operate in men during adulthood for bone mass maintenance via the modulation of bone formation and resorption in men. This threshold should be better identified in-between the ranges of 15 and 25 pg/mL. Future basic and clinical research will optimize strategies for the management of bone diseases related to estrogen deficiency in men.


2014 - Avanafil: profilo farmacocinetico [Abstract in Atti di Convegno]
Rochira, Vincenzo
abstract

This brief synopsis summarizes the pharmacokinetic profile of Avanafil, a new PDE-5 inhibitor.


2014 - BRAF V600E mutation in washing liquid of thyroid fine-needle aspiration: a surprising tool in cytological benign nodules. [Abstract in Rivista]
Monzani, Maria Laura; Brigante, Giulia; Marino, Marco; L., Bonacini; Pignatti, Elisa; K., Cioni; Madeo, Bruno; Rochira, Vincenzo; Santi, Daniele; Maiorana, Antonino; Carani, Cesare; Simoni, Manuela
abstract

The good diagnostic value of a new method for BRAF V600E detection within the washing fluid of thyroid fine-needle aspiration biopsy has been demonstrated together with time and cost saving characteristics of this procedure.


2014 - Delta-4 pathway steroid profiling by isotopic dilution, liquid chromatography-mass spectrometry after human chorionic gonadotropin stimulation in serum of men with Klinefelter Syndrome [Abstract in Atti di Convegno]
Belli, Serena; Antonio R. M., Granata; Rochira, Vincenzo; Flaminia, Fanelli; Carlotta, Pelusi; Marco, Mezzullo; Eleonora, Leoni; S., Tagliavini; Laura, Roli; Renato, Pasquali; Uberto, Pagotto; Simoni, Manuela
abstract

ABSTRACT Background: Klinefelter Syndrome (KS) is associated with primary hypogonadism. Recent studies demonstrate greater intratesticular testosterone (ITT) concentrations in KS than in controls. However, the steroidogenic reserve of the testis in KS has never been evaluated in detail. Only few and contradictory studies - mainly from the 80s of the last century - are available in the literature about stimulated serum steroid profile. Aim: To investigate whether an enzymatic block of steroidogenesis might explain hypogonadism in KS. Methods: 13 KS patients (34±8years) not receiving testosterone replacement therapy and 12 eugonadic controls (EC) (32±8years) were enrolled. Serum steroids were measured by Isotopic Dilution, Liquid Chromatography- Tandem Mass Spectrometry (ID-LC-MS/MS) at baseline and for 5 days after i.m. injection of Human Chorionic Gonadotropin (HCG), 5000 IU. Results: HCG raised significantly in serum of both KS and EC (ANOVA, p<0.001), without significant difference between the 2 groups (t-test, p=0.715). All Delta-4 pathway steroids showed a significant increase after HCG stimulation (ANOVA): progesterone (P) (p<0.001 in both groups), 17OH-progesterone (17OHP) (p<0.001 in both groups), androstenedione (A) (p=0.049 in SK and p<0.001 in EU), testosterone (T) (p<0.001 in both groups). The 17OHP/P ratio (p<0.001 in both groups) and T/A ratio (p=0.003 in KS and p<0.001 in EC) raised significantly after HCG. Comparison of response to HCG between patients and controls (t-test) resulted in significant differences for T (p=0.001), 17OHP/P (p=0.005) and T/A ratios (p=0.002). Conclusion: Leydig cells of KS patients are able to respond to HCG by increasing T production less than in EC. The different trend in the two groups of 17OHP/P and T/A ratios suggests a less efficient enzymatic activity of P450c17/POR and 17ßHSD3 in KS than in EC. This study supports a disturbed steroidogenesis in Leydig cells of KS. The simultaneous evaluation by ID-LC-MS/MS of both serum T and ITT levels after HCG in an experimental animal model of KS could help in clarifying the pathophysiology of hypogonadism in KS.


2014 - Espressione di miRNA-146a nel carcinoma follicolare della tiroide e correlazione con istotipo e stadiazione clinica [Abstract in Atti di Convegno]
Pignatti, Elisa; Vighi, Eleonora; Magnani, Elisa; Kara, Elda; Maiorana, Antonino; Rochira, Vincenzo; Carani, Cesare; Simoni, Manuela
abstract

This study investigates the relationship among miRNA-146a and clinical and histological correlates in follicular thyroid cancer


2014 - Funzione gonadica e sessuale in uomini giovani/adulti con infezione da Human Immunodeficiency Virus (HIV) [Abstract in Atti di Convegno]
Santi, Daniele; Brigante, Giulia; C., Diazzi; S., De Vincentis; Zona, Stefano; Guaraldi, Giovanni; Simoni, Manuela; Rochira, Vincenzo
abstract

This study investigates male sexual function in men with HIV infection according with their gonadal status and circulating androgens


2014 - GH deficiency in HIV-infected patients compared to hypoopituitary patients [Abstract in Rivista]
Diazzi, Chiara; Brigante, Giulia; G., Ferrannini; Guaraldi, Giovanni; Ansaloni, Anna; Simoni, Manuela; Rochira, Vincenzo
abstract

The difference between HIV-infected patients with growth hormone deficiency (GHD) and GHD patients with hypopituitarism is in higher values go GH peak after GHRH+Arginine and IGF-1 in men with HIV.


2014 - GH deficiency in HIV-infected patients compared to hypopituitary patients [Abstract in Rivista]
Brigante, Giulia; Diazzi, Chiara; G., Ferrannini; S., De Vincentis; Guaraldi, Giovanni; Ansaloni, Anna; Simoni, Manuela; Rochira, Vincenzo
abstract

Gh peak after GHR+Arginine and IGF-1 are lower in HIV-infected patients with biochemical growth hormone deficiency than in patients with hypopituitarism and GHD.


2014 - Gender differences in GH response to GHRH+ARG in lipodystrophic patients with HIV: a key role for body fat distribution [Articolo su rivista]
Brigante, Giulia; Diazzi, Chiara; Ansaloni, Anna; Zirilli, Lucia; Orlando, Gabriella; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

OBJECTIVE: Gender influence on GH secretion in human immunodeficiency virus (HIV)-infected patients is poorly known. DESIGN AND METHODS: To determine the effect of gender, we compared GH response to GH-releasing hormone plus arginine (GHRH+Arg), and body composition in 103 men and 97 women with HIV and lipodystrophy. The main outcomes were IGF1, basal GH, GH peak and area under the curve (AUC) after GHRH+Arg, body composition, visceral adipose tissue (VAT), and subcutaneous adipose tissue (SAT). RESULTS: Men had lower GH peak and AUC than women (P<0.001). Of the study population, 21% of women and 37% of men had biochemical GH deficiency (GHD; GH peak <7.5 μg/l). VAT-to-SAT ratio was higher in men than in women with GHD (P<0.05). Unlike women, VAT, SAT, and trunk fat were greater in men with GHD than in men without GHD. IGF1 was significantly lower in women with GHD than in women without GHD, but not in men. At univariate analysis, BMI, trunk fat mass, VAT, and total adipose tissue were associated with GH peak and AUC in both sexes (P<0.05). BMI was the most significant predictive factor of GH peak, and AUC at multiregression analysis. Overall, abdominal fat had a less pronounced effect on GH in females than in males. CONCLUSIONS: These data demonstrate that GH response to GHRH+Arg is significantly lower in HIV-infected males than females, resulting in a higher percentage of GHD in men. Adipose tissue distribution more than fat mass per se seems to account for GH gender differences and for the alteration of GH-IGF1 status in these patients.


2014 - Gonadal and sexual function in young/middle aged human immunodeficiency virus (HIV)-infected men [Abstract in Rivista]
Santi, Daniele; Brigante, Giulia; Diazzi, Chiara; S., De Vincentis; Zona, Stefano; Guaraldi, Giovanni; Simoni, Manuela; Rochira, Vincenzo
abstract

The study investigated male sexual function in men with HIV infection according with their gonadal status.


2014 - Hypogonadism in the HIV-infected man [Articolo su rivista]
Rochira, Vincenzo; Guaraldi, Giovanni
abstract

Androgen deficiency occurs frequently in men with human immunodeficiency virus (HIV) infection. Antiretroviral treatments had reduced the prevalence of male hypogonadism. The pathogenesis of testosterone (T) deficiency in HIV is multifactorial. Several mechanisms have been proposed; among them, drugs, fat redistribution, and a poor health status could explain the mechanism leading to gonadotropins inhibition and hypogonadotropic hypogonadism. The diagnosis of hypogonadism in HIV-infected men should be made based on clinical symptoms and a specific workup including T measurement. The interpretation of the results of biochemical testing is more difficult in men with HIV due to several confounding factors. T treatment should be offered to HIV-infected men with documented clinical hypogonadism and symptoms, especially if they are losing lean mass.


2014 - I pazienti con infezione da HIV hanno un reale deficit di GH (GHD) ? Confronto tra pazienti HIV positivi con documentato GHD biochimico e pazienti ipopituitarici HIV negativi con GHD [Abstract in Atti di Convegno]
Brigante, Giulia; Diazzi, Chiara; G., Ferrannini; Guaraldi, Giovanni; Ansaloni, Anna; Simoni, Manuela; Rochira, Vincenzo
abstract

The response to GHRH+Arginine is higher in HIV-infected patients with GHD when compared to patients with GHD and hypopituitarism


2014 - Identificazione di BRAF V600E nel liquido di lavaggio dell’agoaspirato: un nuovo strumento nella diagnostica del nodulo tiroideo [Abstract in Atti di Convegno]
Monzani, Maria Laura; Brigante, Giulia; Marino, Marco; L., Bonacini; Pignatti, Elisa; K., Cioni; Madeo, Bruno; Rochira, Vincenzo; Santi, Daniele; Maiorana, Antonino; Carani, Cesare; Simoni, Manuela
abstract

This study investigates the diagnostic value of a new methodology for the detection of the BRAF mutation in samples of washing fluid of thyroid fine needle aspiration biopsies. The study demonstrates that this method is valid, and time and cost saving.


2014 - Il volume tiroideo è ridotto in pazienti adulti affetti da beta-talassemia rispetto ai controlli [Abstract in Atti di Convegno]
Ansaloni, Anna; Diazzi, Chiara; Santi, Daniele; Brigante, Giulia; Ferrara, Francesca; Pietrangelo, Antonello; Simoni, Manuela; Rochira, Vincenzo
abstract

This study demonstrates that thyroid volume in adult patients with beta-thalassemia is reduced when compared with that of matched control subjects


2014 - Intact parathyroid hormone levels are associated with increased carotid intima media thickness in HIV infected patients [Articolo su rivista]
Antonio, Bellasi; Paolo, Raggi; Rossi, Rosario; Rochira, Vincenzo; Stentarelli, Chiara; Zona, Stefano; Antonella, Lattanzi; Carli, Federica; Mussini, Cristina; Guaraldi, Giovanni
abstract

Aim. Preliminary evidence suggests that intact parathyroid hormone (iPTH) and bone mineral abnormalities may contribute to the development of vascular disease and are associated with reduced survival in the general population. Whether iPTH is associated with subclinical atherosclerosis in HIV-infected individuals has not been elucidated. Methods. Cross-sectional study of 470 consecutive HIV-infected patients in whom we measured carotid intima-media thickness (cIMT), and collected demographical, clinical and laboratory data. High-cIMT was defined as a mean IMT above the 75th percentile for the study cohort. Parametric, non-parametric tests and logistic regression analyses were used to compare patients' characteristics between low- and high-cIMT and to test the association between high-cIMT and log-transformed iPTH. Results. Of the 470 patients, 130 had high-cIMT. High-cIMT subjects were older and more likely to be male and have a history of cardiovascular disease. Glucose, lipid and iPTH levels were lower among low-cIMT subjects (p < 0.05). Unadjusted and multivariable adjusted analyses demonstrated an independent association between high-cIMT and iPTH (fully adjusted OR: 1.74; 95%CI: 1.08–2.79; p = 0.021). Bootstrap and sensitivity analyses confirmed these findings. Conclusions. Elevated iPTH was associated with subclinical atherosclerosis in HIV-infected subjects. Of note this association was statistically significant even for iPTH values within the range of normality. The existence of a causal relationship between iPTH and atherosclerosis needs to be fully explored in future investigations.


2014 - Male sexual dysfunction and HIV--a clinical perspective. [Articolo su rivista]
Santi, Daniele; Brigante, Giulia; Zona, Stefano; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

Sexual dysfunction in men with HIV is often overlooked by clinicians owing to many factors, including the taboo of sexuality. The improved life expectancy of patients with HIV requires physicians to consider their general wellbeing and sexual health with a renewed interest. However, data on sexual dysfunction in those with HIV are scarce. Erectile dysfunction (ED) is the most common sexual dysfunction in men, with a prevalence of ∼30-50% and is frequent even in men <40 years of age. HIV infection itself is the strongest predictor of ED, and many factors related to the infection-fear of virus transmission, changes in body image, HIV-related comorbidities, infection stigma, obligatory condom use-all impair erectile function. The diagnosis and treatment of sexual dysfunction is based on a multidisciplinary approach, which involves specialists in both infectious diseases and sexual medicine. Particular attention should be paid to the promotion of safer sex in these patients. This Review, describes the issues surrounding sexual dysfunction in men with HIV and aims to provide clinical advice for the physician treating these patients.


2014 - Pre-miR146a expression in follicular carcinomas of the thyroid [Articolo su rivista]
Roncati, Luca; Pignatti, Elisa; Vighi, Eleonora; Magnani, Elisa; Kara, Elda; Rochira, Vincenzo; Carani, Cesare; Simoni, Manuela; Maiorana, Antonino
abstract

INTRODUCTION: Micro-RNA, a new class of small, non-coding RNAs, have been shown to be deregulated in several human carcinomas. In particular, SNP rs2910164 in pre-miR146a appears to be correlated with papillary thyroid carcinoma and may be involved in its genetic predisposition. Since data on follicular thyroid carcinomas (FTC) are lacking, we evaluated the involvement of SNP rs2910164 in FTC. METHODS: Thirty-nine cases of FTC and 20 follicular adenomas, defined according to WHO criteria, were selected. DNA and RNA were extracted from formalin-fixed paraffin-embedded blocks of both neoplastic and non-neoplastic areas. The DNA region of pre-miR146a, containing SNP rs2910164, was sequenced. Total RNA including miRNAs was used for stem-loop RT reactions, and applying a standard TaqMan PCR kit protocol for real-time PCR. Wilcoxon signed-rank test and Friedman test were used for statistical analyses. RESULTS: In 31% of FTC, the G allele was observed in neoplastic tissues, compared with the non-neoplastic areas (p < 0.05), whereas the CC phenotype was completely absent in tumours. Moreover, the expression of pre-miR146a was found to be significantly down-regulated in neoplastic tissues from FTC cases (p = 0.043), although no significant differences were seen in follicular thyroid adenomas. DISCUSSION: The expression profile of pre-miR146a can be correlated with FTC tumourigenesis. The G allele in SNP rs2910164 appears to be correlated with the transition from normal to neoplastic tissue. The GG and GC alleles appear to be associated with an increased risk for FTC, while the CC allele seems to play a protective role.


2014 - Pre-mir146a e FSHR sono marker di mosaicismo tiroideo nel carcinoma follicolare della tiroide [Abstract in Atti di Convegno]
Vighi, Eleonora; Pignatti, Elisa; Magnani, Elisa; Kara, Elda; Artuso, Lucia; Bernardis, Isabella; V., Cirello; Tagliafico, Enrico; Maiorana, Antonino; L., Fugazzola; Rochira, Vincenzo; Carani, Cesare; Simoni, Manuela
abstract

This study investigates the pre-mir146a within follicular thyroid cancer tissue and normal thyroid


2014 - Relationship between testosterone and HIV-related comorbidities: secondary hypogonadism is associated with a poor health status in HIV-infected men [Abstract in Atti di Convegno]
Rochira, Vincenzo; Diazzi, Chiara; Brigante, Giulia; Santi, Daniele; Maria Chiara De, Caroli; Sara De, Vincentis; Simoni, Manuela; Carani, Cesare; Guaraldi, Giovanni
abstract

ABSTRACT INTRODUCTION: Testosterone (T) deficiency is very common in men with Human Immunodeficiency Virus (HIV), and it is more often associated with inappropriately low/normal luteinizing hormone (LH). However, the underlying causes remain poorly understood. Moreover, the role of HIV and/or HIV infection treatments, as well as the role of the general health status on the gonadal axis have been rarely investigated. AIM: The aim of this study is to evaluate the association between gonadal function and health status in men with HIV infection. METHODS: We performed a cross-sectional, observational study on 1359 consecutive HIV male outpatients. Morning serum Total T (TT), LH, estradiol, HIV parameters were measured. Frailty Index and number of comorbidities were extracted from the Clinical Database in which all patients data are recorded. TT<300 ng/dL was used as the threshold for biochemical T deficiency. RESULTS: T deficiency was found in 212 subjects (15.6%), and most of them (n=183; 13.4%) had secondary hypogonadism. TT resulted inversely related to Frailty Index in all patients (r=0.302, r2=0.091), this correlation being strengthened in HIV- infected men with secondary hypogonadism (r=0.403, r2=0.162). The percentage of HIVinfected men with TT <300 ng/dL increased progressively in accordance with the increase in the number of comorbidities (0.5%, 2.8%, 8.5%, 22.7%, 25.5%, 40% in men with 0, 1, 2, 3, 4, and >5 comorbidities, respectively). CONCLUSION: Poor health status in HIV-infected men might be involved in the pathogenesis of hypogonadism. This mechanism could reflect an adaptive response to illness in unhealthy patients similarly to what happens in other clinical conditions such as anorexia nervosa. Thus, low TT could be considered a biomarker of frailty and might confer an advantage for both the sick patients (in terms of sparing energy) and the species (preventing fatherhood). Furthermore, frailty related hypogonadism could be part of the process of premature aging already demonstrated in HIVinfected patients.


2014 - Terapia di supporto con testosterone e funzione sessuale: studio di meta-analisi [Abstract in Atti di Convegno]
G., Corona; A. M., Isidori; A., Aversa; G., Rastrelli; Rochira, Vincenzo; A., Sforza; A., Lenzi; E., Mannucci; M., Maggi
abstract

This is a study of meta-analysis on the effect of testosterone treatment on male sexual function.


2014 - Testosterone supplementation and sexual function: a meta-analysis study [Abstract in Rivista]
G., Corona; A. M., Isidori; J., Buvat; A., Aversa; G., Rastrelli; G., Hackett; Rochira, Vincenzo; A., Lenzi; M., Maggi
abstract

The study presents the results of a meta-analysis performed on all the studies investigating the effects of testosterone treatment on erectile function and male sexual behavior.


2014 - Testosterone supplementation and sexual function: a meta-analysis study [Articolo su rivista]
G., Corona; A. M., Isidori; J., Buvat; A., Aversa; G., Rastrelli; G., Hackett; Rochira, Vincenzo; A., Sforza; A., Lenzi; E., Mannucci; M., Maggi
abstract

INTRODUCTION: The role of testosterone supplementation (TS) as a treatment for male sexual dysfunction remains questionable. AIM: The aim of this study was to attempt a meta-analysis on the effect of TS on male sexual function and its synergism with the use of phosphodiesterase type 5 inhibitor (PDE5i). METHODS: An extensive Medline, Embase, and Cochrane search was performed. MAIN OUTCOME MEASURES: All randomized controlled trials (RCTs) comparing the effect of TS vs. placebo or the effect of TS as add on to PDE5is on sexual function were included. Data extraction was performed independently by two of the authors (A. M. Isidori and G. Corona), and conflicts resolved by the third investigator (M. Maggi). RESULTS: Out of 1,702 retrieved articles, 41 were included in the study. In particular, 29 compared TS vs. placebo, whereas 12 trials evaluated the effect of TS as add on to PDE5is. TS is able to significantly ameliorate erectile function and to improve other aspects of male sexual response in hypogonadal patients. However, the presence of possible publication bias was detected. After applying "trim and fill" method, the positive effect of TS on erectile function and libido components retained significance only in RCTs partially or completely supported by pharmaceutical companies (confidence interval [0.04-0.53] and [0.12; 0.52], respectively). In addition, we also report that TS could be associated with an improvement in PDE5i outcome. These results were not confirmed in placebo-controlled studies. The majority of studies, however, included mixed eugonadal/hypogonadal subjects, thus imparting uncertainty to the statistical analyses. CONCLUSIONS: TS plays positive effects on male sexual function in hypogonadal subjects. The role of TS is uncertain in men who are not clearly hypogonadal. The apparent difference between industry-supported and independent studies could depend on trial design more than on publication bias. New RCTs exploring the effect of TS in selected cases of PDE5i failure that persistently retain low testosterone levels are advisable.


2014 - Testosterone supplementation and sexual function: a metaanalysis study [Abstract in Atti di Convegno]
Giovanni, Corona; Andrea M., Isidori; Antonio, Aversa; Giulia, Rastrelli; Rochira, Vincenzo; Andrea, Lenzi; Mario, Maggi
abstract

ABSTRACTObjective. The role of testosterone supplementation (TS) as a treatment for male sexual dysfunction remains questionable. The aim of the present study is to metaanalyse the effect of TS on male sexual function and its synergism with the use of phosphodiesterase type 5 (PDE5i). Methods. An extensive Medline Embase and Cochrane search was performed. All randomized controlled trials (RCTs) comparing the effect of TS vs. placebo or the effect of TS as add on to PDE5ì s on sexual function were included. Results. Out of 1702 retrieved articles, 41 were included in the study. TS is able to significantly ameliorate erectile function and to improve other aspects of male sexual response in hypogonadal patients. However, the presence of possible publication bias was detected. After applying “trim and fill” method, the positive effect of TS on erectile function and libido components retained significance only in RCTs partially or completed supported from pharmaceutical companies (Confidence Interval [0.04-0.53] and [0.12;0.52], respectively). In addition, we also report that TS could be associated with an improvement in PDE5i outcome. These results were not confirmed in placebo-controlled studies. The majority of them, however, included mixed eugonadal/hypogonadal subjects. Conclusions. TS plays positive effects on male sexual function in hypogonadal subjects. The role of TS is uncertain in men who are not clearly hypogonadal. The apparent difference between industry-supported and independent studies could depend on trial design more than on publication bias. New RCTs exploring the effect of TS in selected cases of PDE5i failure who persistently retain low T levels are advisable.


2014 - Thyroid volume in adult beta-thalassemic patients is smaller than in controls [Abstract in Rivista]
Ansaloni, Anna; Diazzi, Chiara; Santi, Daniele; Brigante, Giulia; Ferrara, Francesca; Carani, Cesare; Pietrangelo, Antonello; Simoni, Manuela; Rochira, Vincenzo
abstract

Thyroid volume is significantly reduced in adult patients with beta-thalassemia than in matched controls


2014 - Thyroid volume in adult beta-thalassemic patients is smaller than in controls [Abstract in Rivista]
Ansaloni, Anna; Diazzi, Chiara; Santi, Daniele; Brigante, Giulia; F., Ferrara; Pietrangelo, Antonello; Rochira, Vincenzo
abstract

Patients with beta-thalassemia have lower thyroid volume estimated at ultrasound than matched controls.


2014 - Voluminosa cisti paratiroidea cervico-mediastinica di riscontro occasionale in paziente affetto da sindrome di Boerhaave [Articolo su rivista]
K., Cioni; Spaggiari, Giorgia; Madeo, Bruno; Rochira, Vincenzo
abstract

The description and the imaging of a great parathyroid cyst in a mans with Boerhaave Syndrome is described


2013 - Anterior panhypopituitarism due to neurosarcoidosis unmasked by sexual dysfunction in a young adult man [Abstract in Rivista]
Vezzani, Silvia; Diazzi, Chiara; Rochira, Vincenzo
abstract

A case of neurosarcoidosis with pituitary involvement is described. The rarity of disease and the peculiar onset characterized by male sexual dysfunction makes this case of interest.


2013 - Are pre-miR-146a and PTTG1 associated with papillary thyroid cancer? [Articolo su rivista]
Marino, Marco; Valentina, Cirello; Gnarini, Valentina; Carla, Colombo; Pignatti, Elisa; Casarini, Livio; Diazzi, Chiara; Rochira, Vincenzo; Katia, Cioni; Madeo, Bruno; Carani, Cesare; Simoni, Manuela; Laura, Fugazzola
abstract

Papillary thyroid carcinoma (PTC) is the most common endocrine malignancy, with a steadily increasing incidence in the last few decades worldwide. The predisposition to developing this carcinoma by the heterozygous state of rs2910164 within the precursor of the miR-146a has been reported, but recently not confirmed. Interestingly, on the same chromosome, almost 50 kb separate the pre-miR-146a from the pituitary tumor-transforming gene 1 (PTTG1), a proto-oncogene involved in several tumors, including thyroid cancers. In this study, we analyzed, using a case–control design, the genetic association between PTC and the genomic region encompassing pre-miR-146a rs2910164 and PTTG1 rs1862391 and rs2910202. We enrolled 307 affected patients and 206 healthy controls. The possible presence of thyroid nodules in controls was excluded by ultrasonography. All the cases were submitted to single- nucleotide polymorphism (SNP) genotyping of pre-miR-146a and PTTG1, and risk association analyses were carried out. The genotypic and allelic frequencies of pre-miR-146a rs2910164 were not statistically different in the patients and controls, and this SNP was not in linkage disequilibrium with the investigated PTTG1 SNPs. Consistently, meta-analyses, the first including all the affected cases published to date, did not confirm the previously reported association of the heterozygous CG genotype with PTC. The PTTG1 SNPs exhibited the same allelic frequency in the patients and controls and were not associated with the disease. In conclusion, in a well-selected Italian population, neither pre-miR-146a rs2910164 nor PTTG1 rs1862391 and rs2910202 were found to be associated with the risk of developing PTC.


2013 - Aromatase Deficiency [Voce in Dizionario o Enciclopedia]
Carani, Cesare; Rochira, Vincenzo
abstract

Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.


2013 - Association of pre-miR-146a rs2910164 GG genotype with papillary thyroid cancer: a new case control study on two adjacent genes on chromosome 5, pre-miR-146a and PTTG1 [Abstract in Rivista]
Marino, Marco; Valentina, Cirello; Gnarini, Valentina; Pignatti, Elisa; Casarini, Livio; Diazzi, Chiara; Rochira, Vincenzo; Katia, Cioni; Madeo, Bruno; Simoni, Manuela; Laura, Fugazzola
abstract

Role of the pre-miR-146a and PTTG1 on papilary thyroid cancer


2013 - Complete aromatase deficiency in four adult men: detection of a novel mutation and two known mutations in the CYP19A1 gene [Abstract in Rivista]
Pignatti, Elisa; K., Ajlouni; N., Khawaja; K., Unluhizarci; E., Kartal; Carani, Cesare; Marino, Marco; Simoni, Manuela; Vighi, Eleonora; Rochira, Vincenzo
abstract

The study describes 4 new cases of the rare disease aromatase deficiency


2013 - Complete aromatase deficiency in four adult men: detection of a novel mutation and two known mutations in the CYP19A1 gene [Abstract in Rivista]
Pignatti, Elisa; Kursad, Unluhizarci; Ermine, Kartal; Kamel, Ajlouni; Nahla, Khawaja; Carani, Cesare; Marino, Marco; Simoni, Manuela; Vighi, Eleonora; Rochira, Vincenzo
abstract

The abstract deals with the clinical and genetic description of 4 new cases of aromatase deficiency.


2013 - Complete aromatase deficiency in four adult men: detection of a novel mutation and two known mutations in the CYP19A1 gene [Abstract in Rivista]
Pignatti, Elisa; K. M., Ajlouni; N., Khawaja; K., Unluhizarci; E., Kartal; Carani, Cesare; Simoni, Manuela; Marino, Marco; Vighi, Eleonora; Rochira, Vincenzo
abstract

The abstracts descibes four new cases of patients with aromatase deficiency. Both the clinical features and the results of the molecular studies are reported.


2013 - Effects of gender and body composition on GH response to GHRH plus Arginine (GHRH+ARG) in HIV-lipodystrophic patients [Abstract in Rivista]
Brigante, Giulia; Diazzi, Chiara; G., Ferrannini; Ansaloni, Anna; Zirilli, Lucia; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

GH-deficiency is more frequent in men with HIV than in HIV-infected women.


2013 - Effects of gender and body composition on GH response to GHRH plus Arginine (GHRH+Arg) in HIV-lipodystrophic patients: higher rate of GH deficiency in men. [Abstract in Rivista]
Brigante, Giulia; Diazzi, Chiara; G., Ferrannini; Ansaloni, Anna; Zirilli, Lucia; Carani, Cesare; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

The study investigates gender differences in the rate of GH-deficiency among hIV-infected men.


2013 - Effects of gender and body composition on GH response to GHRH+Arg in HIV-lipodystrophic patients: higher rate of GH deficiency in men [Abstract in Rivista]
Brigante, Giulia; Diazzi, Chiara; Giulia, Ferrannini; Ansaloni, Anna; Zirilli, Lucia; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

The study investigated the gender difference in GH secretion after GHRH+Arg in patients with HIV-related lipodystrophy showing hoe men are at higher risk to fail to respond copmared to females. In this group of patients with HIV that are at higher risk of GH deficiency, men have higher risk of GH deficiency than women.


2013 - Effects of treatment for acromegaly on Bone Mineral Density (BMD): is Pegvisomant protective on lumbar BMD? [Abstract in Rivista]
Brigante, Giulia; Santi, Daniele; Diazzi, Chiara; S., De Vincentis; G., Ferrannini; Madeo, Bruno; Simoni, Manuela; Carani, Cesare; Rochira, Vincenzo
abstract

The abstract deals with the different effects of treatments for acromegaly on bone


2013 - Effects of treatment for acromegaly on bone mineral density (BMD): is pegvisomant protective on lumbar BMD? [Abstract in Rivista]
Brigante, Giulia; Santi, Daniele; Diazzi, Chiara; S., De Vincetis; G., Ferrannini; Madeo, Bruno; Simoni, Manuela; Rochira, Vincenzo; Carani, Cesare
abstract

The type of medical therapy for acromegaly may have different effects on bone mineral density


2013 - Effects of treatment for acromegaly on bone mineral density: is pegvisomant protective on lumbar BMD? [Abstract in Rivista]
Brigante, Giulia; Santi, Daniele; Diazzi, Chiara; Sara De, Vincentis; Giulia, Ferrannini; Madeo, Bruno; Carani, Cesare; Simoni, Manuela; Rochira, Vincenzo
abstract

The type of pharmacological treatment used for the control of acromegaly might have different effect in the prevention of bone loss.


2013 - Inverse correlation between vascular calcification and bone mineral density in human immunodeficiency virus-infected patients [Articolo su rivista]
Antonio, Bellasi; Zona, Stefano; Orlando, Gabriella; Carli, Federica; Ligabue, Guido; Rochira, Vincenzo; Antonello, Santoro; Mussini, Cristina; Guaraldi, Giovanni; Paolo, Raggi
abstract

HIV-infected individuals suffer from acceler- ated aging, which manifests as premature cardiovascular and bone disease. However, little is known of the association of these two disorders in the HIV population. Our objective was to investigate the association between a marker of ath- erosclerosis (coronary artery calcium [CAC]) and low bone mineral density (BMD) in a cross-sectional cohort of HIV- infected patients. The study was conducted at the University of Modena and Reggio Emilia, Italy. A total of 636 con- secutive middle-aged, HIV-infected subjects were recruited between January 2006 and December 2010. All patients underwent CAC and BMD assessment. Patients were cate- gorized according to a CAC score\100 or[100 units based on previous literature that identified this cut-point as a marker of increased risk. Low femoral and lumbar spine BMD was defined as \25th percentile value for the study cohort. Logistic regression and bootstrap analysis were used to assess the independent association between CAC and BMD. The main outcome measure was a CAC score[100. Patients with CAC [ 100 were older and more likely to be men, diabetic, and overweight. Patients with CAC \ 100 had better renal function and a lower cardiovascular risk profile. After adjusting for age, sex, traditional and HIV- specific risk factors, vitamin D level, and PTH level, there was a significant association between CAC [ 100 and low BMD for the femur (OR = 2.33, 95 % CI 1.09–4.99; p = 0.02) but not for the spine. Bootstrap analyses con- firmed these findings. In summary, CAC was independently associated with low femoral BMD in HIV-infected patients. Future studies should test whether therapies that attenuate cardiovascular risk in HIV favorably impact bone health.


2013 - Mutations and somatic changes in the genotype of rs2910164 in pre-miR146a are frequent in follicular thyroid carcinoma [Abstract in Rivista]
Vighi, Eleonora; Pignatti, Elisa; Roncati, Luca; Rochira, Vincenzo; Kara, Elda; Madeo, Bruno; E., Magnani; Maiorana, Antonino; Carani, Cesare; Simoni, Manuela
abstract

Mutations and somatic changes in the genotype of rs2910164 in pre-miR146a are frequent in follicular thyroid carcinoma and may be associated with its biological behavior


2013 - New insights on follicular thyroid carcinoma: the role of pre-mir-146a [Abstract in Rivista]
Pignatti, Elisa; Vighi, Eleonora; Roncati, Luca; E., Magnani; Kara, Elda; Madeo, Bruno; Rochira, Vincenzo; Maiorana, Antonino; Carani, Cesare; Simoni, Manuela
abstract

Role of pre-mir-146a on follicular thyroid cancer


2013 - Papillary thyroid cancer: a new case-control study involving pre-mir-146a and PTTG1 genes [Abstract in Rivista]
Marino, Marco; V., Cirello; Gnarini, Valentina; Pignatti, Elisa; Casarini, Livio; Diazzi, Chiara; Rochira, Vincenzo; K., Cioni; Madeo, Bruno; Simoni, Manuela; L., Fugazzola
abstract

Studio genetico dei carcinomi papillari della tiroide


2013 - Pre-miR146a expression profiling of follicular thyroid carcinoma [Abstract in Rivista]
Pignatti, Elisa; Vighi, Eleonora; Roncati, Luca; Kara, Elda; Eleonora, Porcheddu; Elisa, Magnani; Rochira, Vincenzo; Maiorana, Antonino; Carani, Cesare; Simoni, Manuela
abstract

Pre-miR146a may be a marker for predicitng the phenotype of thyroid follicular carcinomas


2013 - Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism [Articolo su rivista]
DELLA VALLE, Elisa; Vezzani, Silvia; Rochira, Vincenzo; Antonio R. M., Granata; Madeo, Bruno; Genovese, Elisabetta; Pignatti, Elisa; Marino, Marco; Carani, Cesare; Simoni, Manuela
abstract

Introduction: Hypogonadotropic hypogonadism (HH) is a heterogeneous disease caused by mutations in several genes. Based on the presence of hyposmia/anosmia it is distin- guished into Kallmann syndrome (KS) and isolated HH. The prevalence of other develop- mental anomalies is not well established. Methods: We studied 36 patients with HH (31 males, 5 females, mean age 41.5), 9 with familial and 27 with sporadic HH (33 congenital, 3 adult-onset), by physical examination, smell test (BSIT Sensonics), audiometry, renal ultrasound, and magnetic resonance imag- ing of the olfactory structures. Results: Based on the smell test, patients were classified as normosmic (n = 21, 58.3%) and hypo/anosmic (n = 15, 41.6%). Hypoplasia/agenesis of olfactory bulbs was found in 40% of patients (10/25; 75% hypo/anosmic, 7.6% normosmic, p<0.01, Fisher’s test). Remarkably, olfactory structures were normal in two anosmic patients, while one nor- mosmic patient presented a unilateral hypoplastic bulb. Fourteen of 33 patients (42.4%) presented neurosensorial hearing loss of various degrees (28.5% hypo/anosmic, 52.6% normosmic, p=NS). Renal ultrasound revealed 27.7% of cases with renal anomalies (26.6% hypo/anosmic, 28.5% normosmic, p = NS). At least one midline defect was found in 50% of the patients (53.3% hypo/anosmic, 47.6% normosmic, p = NS), including abnor- mal palate, dental anomalies, pectus excavatum, bimanual synkinesis, iris coloboma, and absent nasal cartilage. Anamnestically 4/31 patients reported cryptorchidism (25% hypo/anosmic, 5.2% normosmic, p = NS). Conclusion: Hypo/anosmia is significantly related to anatomical anomalies of the olfac- tory bulbs/tracts but the prevalence of other developmental anomalies, especially midline defects and neurosensorial hearing loss, is high both in HH and KS and independent of the presence of anosmia/hyposmia. From the clinical standpoint KS and normosmic HH should be considered as the same complex, developmental disease.


2013 - SNP RS2910164 in pre-mir146a undergoes somatic changes in follicular thyroid carcinoma [Abstract in Rivista]
Vighi, Eleonora; Pignatti, Elisa; Roncati, Luca; Rochira, Vincenzo; Kara, Elda; Madeo, Bruno; E., Magnani; Maiorana, Antonino; Carani, Cesare; Simoni, Manuela
abstract

Role of SNP in follicular thyroid cancer


2013 - TSH-deficiency is associated with a lower thyroid gland volume in hypopituitaric patients compared to healthy volunteers: a cross-sectional study [Abstract in Rivista]
Santi, Daniele; Brigante, Giulia; Gnarini, Valentina; Madeo, Bruno; Sara De, Vincentis; Carani, Cesare; Marco Faustini, Fustini; Balestrieri, Antonio; Rochira, Vincenzo
abstract

The lack of TSH secretion due to hypopituitarism does not influence thyroid nodules volume and their respective progressive growth. Otherwise growth of normal thyroid tissue is under the control of TSH; when the latter is undetectable thyroid volume appears to be reduced compared to controlsonly if thyroid nodules are absent.


2013 - TSH-deficiency is associated with a lower thyroid gland volume in hypopituitaric patients compared to healthy volunteers: a cross-sectional study [Abstract in Rivista]
Santi, Daniele; Brigante, Giulia; Gnarini, Valentina; Madeo, Bruno; S., De Vincentis; Carani, Cesare; M., Faustini Fustini; Balestrieri, Antonio; Rochira, Vincenzo
abstract

TSH deficiency is related to a lower volume of the thyroid in the case of absent thyroid disease, but it has no effect on nodular thyroid disease.


2013 - TSH-deficiency is associated with a lower thyroid gland volume in hypopituitaric patients compared to healthy volunteers: a cross-sectional study. [Abstract in Rivista]
Rochira, Vincenzo; Santi, Daniele; Brigante, Giulia; Gnarini, Valentina; Madeo, Bruno; Sara De, Vincentis; Marco Faustini, Fustini; Balestrieri, Antonio; Carani, Cesare
abstract

The study investigated the effects of long-term TSH-deficiency on thyroid volume suggesting that only healthy thyroid tissue is TSH-dependent, while nodular thyroid tissue is less TSH-dependent


2013 - The diagnostic value of calcitonin measurement in wash-out fluid from fine-needle aspiration of thyroid nodules in the diagnosis of medullary thyroid cancer [Articolo su rivista]
Diazzi, Chiara; Madeo, Bruno; Taliani, Erica; Zirilli, Lucia; Romano, Stefania; Antonio R. M., Granata; Maria Cristina De, Santis; Simoni, Manuela; Katia, Cioni; Carani, Cesare; Rochira, Vincenzo
abstract

Objectives: The diagnostic value of calcitonin measurement in fine-needle aspiration biopsy (FNAB) wash-out fluid (Ct-FNAB) for medullary thyroid cancer (MTC) remains to be determined. This prospective study aims to assess the diagnostic value of Ct-FNAB in thyroid nodules in comparison with basal serum calcitonin (Ct), Pentagastrin-stimulated Ct (Pg-sCt), and cytology. Methods: Among patients with goiter addressed to US-FNAB having initial clinical suggestion for thyroidectomy, 27 patients with thyroid nodule/s (n=60), normal, borderline or increased Ct, fulfilled criteria for thyroidectomy. All 27 patients (enrolled according to exclusion/inclusion criteria) underwent ultrasonography (US), Ct, Pg-sCt, US-assisted FNAB of each patient’s nodule for both cytology, and Ct-FNAB before thyroidectomy. Results: Ct-FNAB resulted always >1000 pg/mL in MTC nodules at histology. For values between 36 and 1000 pg/mL, MTCs and nodular or micronodular C-cell Hyperplasia (CCH) results overlapped. Most of the nodules without MTC and/or CCH had Ct-FNAB<17 pg/mL. Ct-FNAB diagnostic power was superior to and similar to other diagnostic procedures (Ct, Pg-sCt, and cytology) in identifying both MTC and CCH, and MTC alone, respectively. Conclusion: The diagnostic power of Ct-FNAB is valuable compared with other routine procedures. Ct-FNAB is highly reliable for the early detection and accurate localization of MTC in thyroid nodules, but it does not differentiate between MTC and CCH. Ct-FNAB is an extremely valuable diagnostic tool, especially considering that other diagnostic procedures do not provide a definitive diagnosis, and it can be included in the clinical work up of thyroid nodules when MTC is suspected.


2013 - Very high prevalence of ultrasound thyroid scan abnormalities in healthy volunteers in Modena, Italy [Articolo su rivista]
Gnarini, Valentina; Brigante, Giulia; DELLA VALLE, Elisa; Diazzi, Chiara; Madeo, Bruno; Carani, Cesare; Rochira, Vincenzo; Simoni, Manuela
abstract

Background: Italy is characterized by high preva- lence of goiter. To date, only limited data about the preva- lence of goiter in the Italian adult population are available. Aim: To investigate the prevalence of thyroid ultrasound ab- normalities in adults unaware of any thyroid disease and eval- uate the rate of differentiated thyroid cancer (DTC) obtained by this intervention. Methods: Ultrasound (US) thyroid scan was performed in adult volunteers recruited by advertisement in Modena, Italy. One hundred and thirty-five women and 66 men (no.= 201), unaware of any thyroid disease (mean age of 46±10.7 yr) underwent their first thyroid US scan. Results: US thyroid abnormalities were found in 101 subjects (50.3%): 91 nodular goiters (45.2%) and 13 US-thyroiditis (6.5%) associ- ated with positive auto-antibodies in 11 of them. Seventeen subjects (18%) with nodules underwent US-fine needle aspiration biopsy with the following cytological class (C) outcome: 14 patients C2 (82%), 1 patient C3 (6%), 2 patients had C4 (12%), the latter received histological confirmation. Conclu- sions: The prevalence of thyroid abnormalities is very high in subjects unaware of any thyroid disease. DTC was found in 1% of subjects and in 2% of those affected by nodular goi- ter. Compared to the detection rate of the well-established screening programs for breast (0.45%) and colorectal (0.27%) cancer, the prevalence of DTC seems to be much higher. Thy- roid US screening could allow the detection of DTC in asymp- tomatic subjects and this diagnosis often includes DTC at an advanced stage. Thus, US screening not necessarily results in the over-diagnosis of clinically not relevant thyroid diseases.


2012 - Clinical and radiological evidence of the recurrence of reversible pegvisomant-related lipohypertrophy at the new site of injection in two women with acromegaly: a case series [Articolo su rivista]
Rochira, Vincenzo; Zirilli, Lucia; Diazzi, Chiara; Romano, Stefania; Carani, Cesare
abstract

IntroductionPegvisomant-related lipohypertrophy may revert when changing the site of injection, but the lipohypertrophy may recur at the new site of injection. The strength of evidence, however, is weak and comes from information obtained from physical examination only.Case presentationWe studied two Caucasian women with acromegaly, aged 51 and 71 years, with pegvisomant-related lipohypertrophy. Our two patients were evaluated at baseline, when the site of pegvisomant injection was the periumbilical abdominal region, and then four months after switching the injection site from the abdomen to both thighs. Both physical examination and radiological studies (magnetic resonance imaging and dual energy X-ray absorptiometry) demonstrated that the abdominal lipohypertrophy progressively reverted in both patients after switching the site of injection to the thighs. However, lipohypertrophy reappeared at the new site of injection. The radiological outcome confirmed the reversibility of pegvisomant-related lipohypertrophy and strengthened the body of evidence on this issue.ConclusionIn clinical practice, physical examination of the injection site or sites leads to an early detection of lipohypertrophy during pegvisomant treatment. Radiological procedures may be of help to confirm subcutaneous fat changes and for a precise monitoring of fat redistribution. Patients should get appropriate information about lipohypertrophy before starting pegvisomant treatment since the rotation of the site of injection may prevent lipohypertrophy.


2012 - Erectile Dysfunction Is Not a Mirror of Endothelial Dysfunction in HIV-Infected Patients. [Articolo su rivista]
Guaraldi, Giovanni; Beggi, M; Zona, Stefano; Luzi, K; Orlando, Gabriella; Carli, Federica; Ligabue, Guido; Rochira, Vincenzo; Rossi, Rosario; Modena, Maria Grazia; Bouloux, P.
abstract

Introduction.  The penis has been compared to a barometer of endothelial health, erectile dysfunction (ED) being an early sign of endothelial dysfunction. Aim.  The aim of the study was to investigate the extent of the association between ED and endothelial dysfunction in patients with human immunodeficiency virus (HIV) infection on antiretroviral therapy. Methods.  In this observational cross-sectional study, we evaluated the prevalence and factors associated with ED in a cohort of 133 HIV-infected men. Main Outcome Measures.  The International Index of Erectile Function, ultrasound assessment of brachial artery flow mediated dilatation (FMD), and multi-slice computed tomography for coronary artery calcifications (CAC) as surrogates of endothelial dysfunction, the Adult Treatment Panel III criteria to diagnose metabolic syndrome (MS), plasma total testosterone (hypogonadism), and a visual analogue scale (VAS) of aesthetic satisfaction of the face and of the body (psychological distress associated with lipodystrophy). Results.  Thirty-nine (29.32%) patients had mild ED, 14 (10.52%) patients had moderate ED, and 26 (19.55%) patients had severe ED. Prevalence of ED ranged from 45% to 65%, respectively, in patients less than 40 and more than 60 years old. MS was present in 20 (25%) patients with ED and 13 (24%) patients without ED (P value = 0.87). Prevalence of ED neither appeared to be associated with MS as a single clinical pathological entity nor with the numbers of its diagnostic components. FMD < 7% was present in 25 (32%) patients with ED and 18 (33%) patients without ED (P value = 0.83), and CAC > 100 was present in 8 (10%) patients with ED and 5 (9%) patients without ED (P value = 0.87). A stepwise multivariable logistic regression analysis was used to find predictors of ED. Independent predictors were VAS face (odds ratio [OR] = 0.85, 95% confidence interval [CI] 0.73-0.99, P = 0.049) and age per 10 years of increase (OR = 1.73, 95% CI 1.02-2.94, P = 0.04). Conclusions.  Age constituted the most important risk factor for ED, which was related to aesthetic dissatisfaction of the face leading to negative body image perception. Guaraldi G, Beggi M, Zona S, Luzi K, Orlando G, Carli F, Ligabue G, Rochira V, Rossi R, Modena MG, and Bouloux P. Erectile dysfunction is not a mirror of endothelial dysfunction in HIV-infected patients.


2012 - Erectile dysfunction is more common in young to middle-aged HIV-infected men than in HIV-uninfected men. [Articolo su rivista]
Zona, Stefano; Guaraldi, Giovanni; Luzi, Kety; M., Beggi; Santi, Daniele; Stentarelli, Chiara; Madeo, Bruno; Rochira, Vincenzo
abstract

Introduction. The penis has been compared to a barometer of endothelial health, erectile dysfunction (ED) being an early sign of endothelial dysfunction. Aim. The aim of the study was to investigate the extent of the association between ED and endothelial dysfunction in patients with human immunodeficiency virus (HIV) infection on antiretroviral therapy. Methods. In this observational cross-sectional study, we evaluated the prevalence and factors associated with ED in a cohort of 133 HIV-infected men. Main Outcome Measures. The International Index of Erectile Function, ultrasound assessment of brachial artery flow mediated dilatation (FMD), and multi-slice computed tomography for coronary artery calcifications (CAC) as surrogates of endothelial dysfunction, the Adult Treatment Panel III criteria to diagnose metabolic syndrome (MS), plasma total testosterone (hypogonadism), and a visual analogue scale (VAS) of aesthetic satisfaction of the face and of the body (psychological distress associated with lipodystrophy). Results. Thirty-nine (29.32%) patients had mild ED, 14 (10.52%) patients had moderate ED, and 26 (19.55%) patients had severe ED. Prevalence of ED ranged from 45% to 65%, respectively, in patients less than 40 and more than 60 years old. MS was present in 20 (25%) patients with ED and 13 (24%) patients without ED (P value = 0.87). Prevalence of ED neither appeared to be associated with MS as a single clinical pathological entity nor with the numbers of its diagnostic components. FMD < 7% was present in 25 (32%) patients with ED and 18 (33%) patients without ED (P value = 0.83), and CAC > 100 was present in 8 (10%) patients with ED and 5 (9%) patients without ED (P value = 0.87). A stepwise multivariable logistic regression analysis was used to find predictors of ED. Independent predictors were VAS face (odds ratio [OR] = 0.85, 95% confidence interval [CI] 0.73–0.99, P = 0.049) and age per 10 years of increase (OR = 1.73, 95% CI 1.02–2.94, P = 0.04). Conclusions. Age constituted the most important risk factor for ED, which was related to aesthetic dissatisfaction of the face leading to negative body image perception.


2012 - GH response to GHRH plus Arginine in lipodistrophic patients with human immunodeficiency virus: gender differences [Abstract in Rivista]
Brigante, Giulia; Diazzi, Chiara; Guaraldi, Giovanni; M., De Santis; L., Roli; Rochira, Vincenzo; Baraldi, Enrica
abstract

GH deficiency is more frequent in men with HIV than in HIV-infected women


2012 - GH response to GHRH plus arginine is impaired in lipoatrophic women with human immunodeficiency virus compared with controls [Articolo su rivista]
Zirilli, Lucia; Orlando, Gabriella; Carli, Federica; Madeo, Bruno; Cocchi, Stefania; Diazzi, Chiara; Carani, Cesare; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

Objective: GH secretion is impaired in lipodystrophic human immunodeficiency virus (HIV) patients and inversely related to lipodystrophy-related fat redistribution in men. Less is known about the underlying mechanisms involved in reduced GH secretion in HIV-infected women.Design: A case–control, cross-sectional study comparing GH/IGF1 status, body composition, and metabolic parameters in 92 nonobese women with HIV-related lipodystrophy and 63 healthy controls matched for age, ethnicity, sex, and body mass index (BMI).Methods: GH, IGF1, IGF binding protein 3 (IGFBP3), GH after GHRH plus arginine (GHRHCArg), several metabolic variables, and body composition were evaluated.Results: GH response to GHRHCArg was lower in HIV-infected females than in controls. Using a cutoff of peak GH %7.5 mg/l, 20.6% of HIV-infected females demonstrated reduced peak GH response after GHRHCArg. In contrast, none of the control subjects demonstrated a peak GH response %7.5 mg/l. Bone mineral density (BMD), quality of life, IGF1, and IGFBP3 were lowest in the HIV-infected females with a GH peak %7.5 mg/l. BMI was the main predictive factor of GH peak in stepwise multiregression analysis followed by age, with a less significant effect of visceral fat in the HIV-infected females. Conclusions: This study establishes that i) GH response to GHRHCArg is lower in lipoatrophic HIV- infected women than in healthy matched controls, ii) BMI more than visceral adipose tissue or trunk fat influences GH peak in this population, and iii) HIV-infected women with a GH peak below or equal to 7.5 mg/l demonstrate reduced IGF1, IGFBP3, BMD, and quality of life.


2012 - Il deficit dell’aromatasi [Articolo su rivista]
Carani, Cesare; Rochira, Vincenzo
abstract

Il deficit dell'aromatasi è causato da mutazioni inattivanti del gene dell'aromatasi e implica estrogeni sferici non domabili. Nella femmina i genitali ambigui alla nascita consentono una rapida diagnosi. Nel maschio il decorso subdolo della malattia con manifestazioni cliniche (alta statura, crescita lineare continua, scheletro eunucoide) evidenti solo in età adulta causa ritardo nella diagnosi. La terapia sostitutiva con estradiolo a dosaggi fisiologici varia in base al sesso e all'età.


2012 - Nuovi scenari di disfunzione sessuale: il paziente HIV positivo [Relazione in Atti di Convegno]
Santi, Daniele; Brigante, Giulia; Rochira, Vincenzo
abstract

Il capitolo esamina la prevalenza delle disfunzioni sessuali maschili in pazienti con infezione da HIV. Inoltre le peculiarità riguardanti la clinica (diagnosi e terapia) delle disfunzioni sessuali in tale particolare contesto vengono analizzate in dettaglio


2012 - Nuovi scenari di disfunzione sessuale: il paziente HIV positivo [Capitolo/Saggio]
Santi, Daniele; Brigante, Giulia; Rochira, Vincenzo
abstract


2012 - Nursing assistance increases the efficiency of ultrasound-guided fine-needle aspiration biopsy (US-FNAB) in the management of thyroid nodules: the MoCyThy (Modena's Cytology of the Thyroid) DATABASE [Abstract in Rivista]
Belli, Serena; Carani, Cesare; Ansaloni, Anna; Katia, Cioni; Zirilli, Lucia; Marietta, Velasco; Simoni, Manuela; Madeo, Bruno; Rochira, Vincenzo
abstract

The study investigate the role of nursing assistance during ultrasound-guided fine-needle aspiration.


2012 - Osteoporosi maschile. [Capitolo/Saggio]
Madeo, Bruno; Rochira, Vincenzo; Balestrieri, Antonio
abstract

The chapter deals with the clinical management of male osteoporosis


2012 - Pathophysiology of estrogen action in men. [Capitolo/Saggio]
Rochira, Vincenzo; Santi, Daniele; Carani, Cesare
abstract

The chapter of this book deals with the physiological actions of estrogens on several organs and tissues in men. In addition, the effects of disturbances in estrogen action are described and reviewed.


2012 - Prevalence of Erectile Dysfunction Is Greater in Young Middle-Aged HIV-Infected Men Than in HIV-Uninfected Men [Abstract in Rivista]
Madeo, Bruno; Santi, Daniele; Zona, Stefano; Guaraldi, Giovanni; A., Granata; Carani, Cesare; Rochira, Vincenzo
abstract

Erectile dysfunction is more frequent in men living with HIV than in HIV-uninfected men. Erectile function is impaired in men with HIV even at a young age.


2012 - Prevalence of Erectile Dysfunction is greater in young middle-aged HIV-infected Men than in HIV-uninfected Men [Abstract in Rivista]
Madeo, Bruno; Santi, Daniele; Zona, Stefano; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

The study investigates the prevalence of erectile dysfunction in men with HIV infection in comparison with normal healthy men. Erectile dysfunction seems to be more prevalent in HIV and seems to occur at a younger age.


2012 - Prevalence of differentiated thyroid cancer is relevant in patients with familial adenomatous polyposis: a case-control, prospective study [Abstract in Rivista]
Diazzi, Chiara; Benatti, Piero; Zirilli, Lucia; Gnarini, Valentina; Madeo, Bruno; Romano, Stefania; Rossi, Giuseppina; Carani, Cesare; PONZ DE LEON, Maurizio; Roncucci, Luca; Rochira, Vincenzo
abstract

Studio sulla prevalenza dei tumori differenziati della tiroide in pazienti con poliposi adenomatosa famigliare. Lo studio ha permesso di stabilire che la prevalenza di tumori della tiroide è aumentata in questi pazienti in confronto alla popolazione normale.


2012 - Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism [Abstract in Rivista]
DELLA VALLE, Elisa; Vezzani, Silvia; Rochira, Vincenzo; Antonio, Granata; Carani, Cesare; Genovese, Elisabetta; Simoni, Manuela
abstract

Several congenital anomalies different from anosmia are frequent both in Kallmann Syndrome and other forms of Hypogonadotropic Hypogonadism


2012 - Propylthiouracil-induced interstitial pneumonia in a caucasian woman with amiodarone-induced thyrotoxicosis [Articolo su rivista]
Diazzi, Chiara; Brigante, Giulia; Rossi, Giulio; Rochira, Vincenzo
abstract

Background: Propylthiouracil (PTU) therapy is associated with a variety of adverse reactions, among the most rare being interstitial pneumonia. To date, this has been reported in four Asian patients with autoimmune hyperthyroidism. Here we describe a Caucasian woman who developed a bronchiolitis obliterans organizing pneumonia (BOOP)-like interstitial pneumonia after PTU administration for amiodarone-induced thyrotoxicosis. Patient Findings: The patient was a 68-year-old woman who had been treated with amiodarone for chronic atrial fibrillation starting in May 2004. She had been a heavy smoker with a history of hypertension but no dust exposures. In October 2006, amiodarone was stopped after she developed thyrotoxicosis. In January 2007 serum thyroid-stimulating hormone (TSH) was 0.01 mIU/L (0.35-4.94) and free T4 was 17.5 pg/mL (7 to 15). She was initially started on methimazole and then changed to PTU after she developed pruritus. She developed severe dyspnea 9 months after starting PTU. At the time she was also taking warfarin, enalapril, and sotalol. Chest X-ray showed diffuse interstitial peripheral opacities and transbronchial lung biopsy revealed subacute lung injury with organizing pneumonia with hyperplasia of the alveolar type 2 pneumocytes, and characteristics of BOOP-like interstitial pneumonia. Signs and symptoms progressively improved after PTU discontinuation as confirmed at X-ray and computed tomography (CT) scan of the chest and by respiratory function tests. She has been recurrence free for 4 years after stopping PTU. Summary: This woman of Caucasian ancestral origin developed BOOP-like interstitial pneumonia after PTU treatment for apparent amiodarone-induced thyrotoxicosis, with resolution of her lung disease after stopping PTU. Tests for TSH receptor antibodies, thyroid peroxidase antibodies, and antinuclear cytoplasmic autoantibody were negative. Thyroid ultrasound was consistent with thyroiditis without nodules. Conclusions: PTU-associated interstitial pneumonia is not limited to patients of Asian origin or those with autoimmune thyroid disease. PTU must be withdrawn in the presence of respiratory symptoms and documented interstitial pneumonia. X-ray films, CT-scan, respiratory function tests, and lung biopsy are needed to diagnose PTU-induced interstitial pneumonia with certainty and to monitor the evolution of the disease after PTU discontinuation.


2012 - Report: a “silent” FSH-secreting adenoma [Abstract in Rivista]
Santi, Daniele; A. R. M., Granata; Rochira, Vincenzo; Simoni, Manuela; Carani, Cesare
abstract

Case-Report on FSH-secreting pituitary adenoma


2012 - Steroidogenesis in men with Klinefelter Syndrome (KS). [Abstract in Rivista]
Belli, Serena; E., Dall’Olio; Santi, Daniele; Rochira, Vincenzo; A. R., Granata; Carani, Cesare; Simoni, Manuela
abstract

Basal and stimulated sex steroid measurements with liquid mass spectrometry in men with Klinefelter Syndrome


2012 - The Value of Repeated US-Guided Fine-Needle Aspirations (US-FNAB) in the Follow-Up of Thyroid Nodules: Preliminary Results from the MoCyThy (Modena's Cytology of the Thyroid) Database [Abstract in Rivista]
Rochira, Vincenzo; Ansaloni, Anna; Belli, Serena; Vezzani, Silvia; Diazzi, Chiara; Zirilli, Lucia; Simoni, Manuela; Carani, Cesare; Madeo, Bruno
abstract

Repeating ultrasound guided fine needle aspiration might be useful for detecting thyroid malinìgnant nodules


2012 - The cellular fate of CYP19A1 (aromatase) protein [Abstract in Rivista]
Pignatti, Elisa; Ferioli, Silvia; Carani, Cesare; Rochira, Vincenzo; Francesco, Potì; Simoni, Manuela
abstract

Le variazioni nell'attività enzimatica e nella degradazione dell'enzima indotte dalle mutazioni finora descritte del gene CYP19A1 sono state studiate in vitro mediante studi di transfezione e confrontate con l'enzima wild type.


2012 - Ultrasound (US) Features of Thyroid Nodules with Cytology Suspicious for Malignancy [Abstract in Rivista]
Rochira, Vincenzo; Taliani, Erica; Ansaloni, Anna; Diazzi, Chiara; Brigante, Giulia; Carani, Cesare; Madeo, Bruno
abstract

Several US features are associated with and predict thyroid malignancy


2012 - Ultrasound (US) features of thyroid nodules with cytology suspicious for malignancy [Abstract in Rivista]
Taliani, Erica; Ansaloni, Anna; Diazzi, Chiara; Antonio R. M., Granata; Carani, Cesare; Rochira, Vincenzo; Madeo, Bruno
abstract

Studio dell'associazione di determinate caratteristiche ecografie con la malignità dei noduli tiroidei.


2012 - Ultrasound-guided fine-needle aspiration biopsy (US-FNAB) of thyroid nodules: effects of the operator’s experience on adequacy of sampling: the MoCyThy (Modena’s Cytology of the Thyroid) DATABASE [Abstract in Rivista]
Vezzani, Silvia; Ansaloni, Anna; Zirilli, Lucia; Katia, Cioni; Diazzi, Chiara; Simoni, Manuela; Madeo, Bruno; Rochira, Vincenzo
abstract

Lo studio ha permesso di evidenziare come l'esperienza (in termini di anni e di numero di prestazioni eseguite) sia importante per i risultati dell'agoaspirato tiroideo ecoguidato dei noduli tiroidei


2012 - Value of repeated US-guided fine-needle aspirations (US-FNAB) in the follow-up of thyroid nodules: the MoCyThy (Modena’s Cytology of the Thyroid) DATABASE [Abstract in Rivista]
Ansaloni, Anna; Belli, Serena; Vezzani, Silvia; Antonio R. M., Granata; Zirilli, Lucia; Katia, Cioni; Carani, Cesare; Madeo, Bruno; Rochira, Vincenzo
abstract

Lo studio ha valutato il valore diagnostico della ripetizione dell'agoaspirato ecoguidato nella diagnosi dei noduli tiroidei


2011 - A case of painful thyroid, an unexpected clinical outcome [Abstract in Rivista]
Taliani, Erica; Guidi, Alessandro; Rochira, Vincenzo; Barbara, Mullineris; Micaela, Piccoli; Rossi, Giulio; Antonio RM, Granata; Carani, Cesare; Madeo, Bruno
abstract

Description of a case of metastatic squamous cell carcinoma in the thyroid mimicking a thyroid nodule


2011 - Bone mineral density and sex hormones in HIV-infected men [Abstract in Rivista]
Madeo, Bruno; Santi, Daniele; Orlando, Gabriella; Guaraldi, Giovanni; Fabio, Vescini; Simoni, Manuela; Carani, Cesare; Rochira, Vincenzo
abstract

In men with HIV bone mineral density depends on estrogens and not from testosterone as in non HIV-infected men.


2011 - Coronary artery calcification is associated with femoral but not with lumbar spine mineral density [Abstract in Atti di Convegno]
Antonio, Bellasi; Zona, Stefano; Orlando, Gabriella; Carli, Federica; Cocchi, Stefania; Ligabue, Guido; Rochira, Vincenzo; Bagni, Pietro; Paolo, Raggi; Guaraldi, Giovanni
abstract

Coronary artery calcification is associated with reduced BMD in HIV-infected patients.


2011 - Coronary artery calcification is associated with femoral but not with lumbar spine mineral density [Abstract in Rivista]
Antonio, Bellasi; Zona, Stefano; Orlando, Gabriella; Carli, Federica; Cocchi, Stefania; Ligabue, Guido; Rochira, Vincenzo; Bagni, Pietro; Paolo, Raggi; Guaraldi, Giovanni
abstract

Calcium within the coronary is associated with low BMD


2011 - Diagnosi Precoce: vantaggi e svantaggi [Relazione in Atti di Convegno]
Rochira, Vincenzo
abstract

The diagnosis of Klinefelter Syndrome is challenging during childhood and adolescence and the disease remains often overlooked even during adulthood. Early diagnosis is possible in case of fetal amniocentesis (prenatal diagnosis) or in case of early recognition of the few clinical signs and symptoms present during childhood (learning disabilities, altered length of some skeletal segments) and adolescence (low volume of the testes)


2011 - Endocrine care in HIV-infected patients [Abstract in Rivista]
Rochira, Vincenzo
abstract

The abstract deals with the summary of a talk to the congress as the Expert of endocrinology of the HIV-infected patient


2011 - Endocrine care in HIV-infected patients [Relazione in Atti di Convegno]
Rochira, Vincenzo
abstract

The chapter deals with the endocrine complications in patients with HIV infection due to the viral infection and/or to the antiviral treatments.


2011 - Erectile Dysfunction Does Not Mirror Endothelial Dysfunction in HIV-Infected Patients [Abstract in Rivista]
Santi, Daniele; Mattia, Beggi; Brigante, Giulia; Zona, Stefano; Kety, Luzy; Orlando, Gabriella; Rossi, Rosario; Pierre, Bouloux; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

Non classical risk factors are associated with HIV-related erectile dysfunction


2011 - Erectile dysfunction does not mirror endothelial dysfunction in hiv-infected patients [Abstract in Rivista]
Santi, Daniele; Mattia, Beggi; Brigante, Giulia; Zona, Stefano; Luzi, Kety; Orlando, Gabriella; Rossi, Rosario; Pierre, Bouloux; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

This study confirms that the classical predictors of erectile dysfunction are not associated to impaired erectile function, probably since other factor are more important in HIV , the latter mask the role of classic risk factors


2011 - Erratum: Vitamin D deficiency is associated with type 2 diabetes mellitus in HIV infection (AIDS (2011) 25 (707-711)) [Articolo su rivista]
Szep, Z.; Guaraldi, G.; Shah, S.; Lo Re, V.; Ratcliffe, S. J.; Orlando, G.; Carli, F.; Rossi, R.; Rochira, V.; Tebas, P.
abstract

N/A


2011 - Fratture vertebrali in giovane età da osteoporosi grave in un paziente con sindrome di Kallmann. [Articolo su rivista]
Rochira, Vincenzo; A. R. M., Granata; Madeo, Bruno
abstract

Le immagini delle fratture vertebrali e della densitometria ossea sono mostrate in un paziente giovane con Sindrome di Kallmann


2011 - Hormonal regulation of male sexual desire: the role of testosterone, estrogen, prolactin, oxytocin, vasopressin, and others [Capitolo/Saggio]
A. R. M., Granata; V., Pugni; Rochira, Vincenzo; Zirilli, Lucia; Carani, Cesare
abstract

The Chapter deals with the role of hormones in the control of male sexual behavior and their possible role in the treatment of male sexual dysfunctions.


2011 - I supporti tecnologici nella pratica clinica del diabete mellito: un valido strumento per un miglior controllo glicemico [Abstract in Atti di Convegno]
Romano, Stefania; Luberto, Alessandra; Rita, Cavani; Rochira, Vincenzo
abstract

Descrizione di un caso clinico e dell'utilità dei Sistemi di Monitoraggio Continui della glicemia


2011 - Inactivating mutations of CYP19A1 (aromatase) gene reduce the protein stability in vitro [Abstract in Rivista]
Pignatti, Elisa; Ferioli, Silvia; Simoni, Manuela; Carani, Cesare; Rochira, Vincenzo
abstract

Role of inactivating mutation of the aromatase gene on the protein structure, function and degradation


2011 - Lateralization of calcitonin measurements in the wash-out fluid from thyroid fine-needle aspiration: a useful tool for the diagnosis of C-cell-hyperplasia? [Articolo su rivista]
Rochira, Vincenzo; Diazzi, Chiara; Brigante, Giulia; L., Persani; L., Fugazzola; Rossi, Giulio; Carani, Cesare
abstract

The measurement of calcitonin in the wash-out fluid from fine-needle aspiration seems to be a reliable method for the detection of C-cell hyperplasia when an evident difference in calcitonin levels between the two lobes of the thyroid is present.


2011 - Lower serum testosterone (T) and estradiol (E2) in adult men with infuse epiphyses due to unrecognized and untreated congenital hypogonadotropic hypogonadism (HH): evidence for an E2-threshold for bone maturation in men [Abstract in Rivista]
Rochira, Vincenzo; Balestrieri, Antonio; Zirilli, Lucia; Madeo, Bruno; Sgarbi, Ilaria; Luberto, Alessandra; Carani, Cesare
abstract

Estrogens rather than androgens are able to complete bone maturation only if the value is above a thresholds. In men with hypogonadotropic hypogonadism who have a serum estrogen below this threshold the growth plate does not fuse and the patient continues to growth in height.


2011 - Lower serum testosterone and estradiol (E2) in adult men with unfused epiphyses due to unrecognized and untreated congenital hypogonadotropic hypogonadism: evidence for an E2 threshold for bone maturation in men [Abstract in Rivista]
Rochira, Vincenzo; Balestrieri, Antonio; Zirilli, Lucia; Madeo, Bruno; Sgarbi, Ilaria; Luberto, Alessandra; Carani, Cesare
abstract

This study confirms that estrogen and relative estrogen deficiency are responsible for the lack of bone maturation in men with severe hypogonadism


2011 - Pituitary Function in Type 2 Diabetic Men with Good or Poor Glycemic Control [Abstract in Rivista]
Scaltriti, Sara; Madeo, Bruno; Monica, Bertolini; Romano, Stefania; Zirilli, Lucia; Emma Rita, Cavani; Balestrieri, Antonio; Carani, Cesare; Rochira, Vincenzo
abstract

The study explore the effects of a poor glycaemic control on the hypothalamic-pituitary gonadal axis in men.


2011 - Pituitary function in type 2 diabetic men with good or poor glycaemic control [Abstract in Rivista]
Scaltriti, Sara; Madeo, Bruno; Monica, Bertolini; Romano, Stefania; Zirilli, Lucia; Emma Rita, Cavani; Antonio, Balestrieri; Carani, Cesare; Rochira, Vincenzo
abstract

The study investigates the role of hyperglycemia on the gonadotropin feedback in men with type-2 diabetes


2011 - Premature Decline of Serum Total Testosterone in HIV-Infected Men in the HAART-Era [Articolo su rivista]
Rochira, Vincenzo; Zirilli, Lucia; Orlando, Gabriella; Santi, Daniele; Brigante, Giulia; Diazzi, Chiara; Carli, Federica; Carani, Cesare; Guaraldi, Giovanni
abstract

BackgroundTestosterone (T) deficiency remains a poorly understood issue in men with Human Immunodeficiency Virus (HIV). We investigated the gonadal status in HIV-infected men in order to characterize T deficiency and to identify predictive factors for low serum T.Methodology/Principal FindingsWe performed a cross-sectional, observational study on 1325 consecutive HIV male outpatients, most of them having lipodystrophy. Serum total T<300 ng/dL was used as the threshold for biochemical T deficiency. Morning serum total T, luteinizing hormone (LH), estradiol, HIV parameters, and body composition parameters by CT-scan and Dual-Energy-X-ray-Absorptiometry were measured in each case. Sexual behavior was evaluated in a subset of 247 patients. T deficiency was found in 212 subjects, especially in the age range 40–59, but was frequent even in younger patients. T deficiency occurred mainly in association with low/normal serum LH. Adiposity was higher in subjects with T deficiency (p<0.0001) and both visceral adipose tissue and body mass index were the main negative predictors of serum total T. Osteoporosis and erectile dysfunction were present in a similar percentage in men with or without T deficiency.Conclusions/SignificancePremature decline of serum T is common (16%) among young/middle-aged HIV-infected men and is associated with inappropriately low/normal LH and increased visceral fat. T deficiency occurs at a young age and may be considered an element of the process of premature or accelerated aging known to be associated with HIV infection. The role of HIV and/or HIV infection treatments, as well as the role of the general health state on the gonadal axis, remains, in fact, to be elucidated. Due to the low specificity of signs and symptoms of hypogonadism in the context of HIV, caution is needed in the diagnosis of hypogonadism in HIV-infected men with biochemical low serum T levels.


2011 - Premature decline of serum total testosterone in human immunodeficiency virus (HIV) infected men with HIV-related lipodystrophy in the highly active antiretroviral therapy (HAART) era: a cross-sectional observational study [Abstract in Rivista]
Rochira, Vincenzo; Zirilli, Lucia; Orlando, Gabriella; Santi, Daniele; Brigante, Giulia; Diazzi, Chiara; Carli, Federica; Zona, Stefano; Carani, Cesare; Guaraldi, Giovanni
abstract

Hypogonadism is common in HIV-infected men with HAART. The causes are both testicular failure and pituitary insufficiency, these two cause often coexist in a mixed form of hypogonadism.


2011 - Prevalence of secondary, primary, and compensated hypogonadism in HIV infected men in HAART era: a cross-sectional observational study [Abstract in Rivista]
Brigante, Giulia; Santi, Daniele; Zirilli, Lucia; Diazzi, Chiara; Orlando, Gabriella; Simoni, Manuela; Carani, Cesare; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

The study investigates the prevalence of male hypogonadism among patients with HIV infection paying particular attention to the different types of hypogonadism


2011 - Remission of primary hyperparathyroidism after parathyroid adenoma fine needle-aspiration biopsy [Abstract in Rivista]
DELLA VALLE, Elisa; Rochira, Vincenzo; Carani, Cesare; Madeo, Bruno
abstract

Fine-needle aspiration biopsy could in some particular circumstances lead to remission of parathyroid adenoma. A case-report.


2011 - Ruolo del dosaggio di calcitonina (Ct) nei liquidi di lavaggio da agoaspirato (FNA-B) nella diagnosi di carcinoma midollare della tiroide (MTC): confronto con la calcitonina basale, la citologia e il test di stimolo alla pentagastrina (Pg-test) [Abstract in Rivista]
Baraldi, Enrica; Rochira, Vincenzo; Maria Cristina De, Santis; Diazzi, Chiara; Laura, Roli; Madeo, Bruno; Carani, Cesare; Tommaso, Trenti
abstract

Ruolo diagnostico del dosaggio della calcitonina nel liquido di lavaggio ottenuto mediante agoaspirato ecoguidato dei noduli tiroidei sospetti per carcinoma midollare tiroideo.


2011 - Self-Monitoring of Blood Glucose in Type 2 Diabetes Mellitus: Effect on Glycemic Control in Non-Insulin-Treated Patients [Abstract in Rivista]
Madeo, Bruno; Scaltriti, Sara; Romano, Stefania; Diazzi, Chiara; El Goch, Marwan; Antonio R. M., Granata; Emma Rita, Cavani; Rochira, Vincenzo
abstract

Glucose self-monitoring improve glucose control


2011 - Self-monitoring of blood glucose in type 2 diabetes mellitus: effect on glycemic control in non-insulin-treated patients [Abstract in Rivista]
Madeo, Bruno; Scaltriti, Sara; Romano, Stefania; Diazzi, Chiara; Marwan El, Goch; Antonio RM, Granata; Emma Rita, Cavani; Carani, Cesare; Rochira, Vincenzo
abstract

The role of self-monitoring of blodd glucose on the control of the disease


2011 - Sex steroids and HIV-related osteoporosis in men: low circulating estrogens are associated with impaired bone mineral density (BMD) [Abstract in Rivista]
Santi, Daniele; Brigante, Giulia; Orlando, Gabriella; Ciccarese, Michela; Diazzi, Chiara; Guaraldi, Giovanni; Carani, Cesare; Rochira, Vincenzo; Madeo, Bruno
abstract

The study investigates the role of sex steroids on HIV-related osteoporosis, suggesting that relative estrogen deficiency might play a role even in this particular type of bone demineralization.


2011 - Sexuality and erectile dysfunction [Capitolo/Saggio]
Carani, Cesare; Rochira, Vincenzo; A. R. M., Granata
abstract

The chapter deals with the physiology and pathophysiology of sexual function in men. The diagnosis and management of erectile dysfunction and its treatment as well as the relationship among hormonal status and sexual functions are discussed.


2011 - Testosterone (T) ed estradiolo (E2) sierici in maschi adulti con ipogonadismo ipogonadotropo congenito (IIC) non diagnosticato e non trattato: evidenza di un valore soglia per l’E2 nella maturazione [Abstract in Atti di Convegno]
Rochira, Vincenzo; Balestrieri, Antonio; Zirilli, Lucia; Madeo, Bruno; Carani, Cesare
abstract

Il ruolo degli estrogeni nella maturazione scheletrica del maschio si evince dallo studio di pazienti con ipogonadismo ipogonadotropo severo diagnosticato con ritardo in cui solo estrogeni sierici al di sopra di una certa soglia sono in grado di garantire una normale maturazione ossea.


2011 - Testosterone Changes over Time in Men with Human Immunodeficiency Virus Infection: Preliminary Results [Abstract in Rivista]
Brigante, Giulia; Santi, Daniele; Zirilli, Lucia; Diazzi, Chiara; Orlando, Gabriella; Gnarini, Valentina; Carani, Cesare; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

The study explored the changes overtime of circulating testosterone


2011 - Testosterone changes over time in men with human immunodeficiency virus infection: preliminary results [Abstract in Rivista]
Brigante, Giulia; Santi, Daniele; Zirilli, Lucia; Diazzi, Chiara; Orlando, Gabriella; Gnarini, Valentina; Carani, Cesare; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

The study investigates the changes in circulating testosterone overtime in order to establish if hypogonadism in men with HIV is a reversal condition or not


2011 - Testosterone fattore di rischio per osteoporosi: evidenze cliniche [Relazione in Atti di Convegno]
Rochira, Vincenzo
abstract

La relazione riassume i contenuti della presentazione tenuta al convegno. In particolare, i quadri clinici e le alterazioni del apparato scheletrico in pazienti maschi con ipogonadismo sono classificati ed i vari meccanismi patogenetici (in particolare il ruolo della relativa estrogeno-deficienza) sono trattati in dettaglio.


2011 - Thyroid Disease in Patients with Type-1 Neurofibromatosis: A New Chapter? [Abstract in Rivista]
Diazzi, Chiara; Guidi, Alessandro; Luberto, Alessandra; Taliani, Erica; Madeo, Bruno; Rochira, Vincenzo; Carani, Cesare
abstract

The study explore the prevalence of thyroid diseases (mainly thyroid nodules) in patients with the neurofibromatosis.


2011 - Thyroid disease in patients with type-1 neurofibromatosis: an underestimated issue ? [Abstract in Rivista]
Diazzi, Chiara; Guidi, Alessandro; Luberto, Alessandra; Taliani, Erica; Madeo, Bruno; Rochira, Vincenzo; Carani, Cesare
abstract

The study deals with the incidence of medullary thyroid cancer in patients with type-1 neurofibromatosis


2011 - Thyroid disease in patients with type-1 neurofibromatosis: an underestimated issue? [Abstract in Rivista]
Diazzi, Chiara; Guidi, Alessandro; Luberto, Alessandra; Taliani, Erica; Madeo, Bruno; Rochira, Vincenzo; Carani, Cesare
abstract

The study investigates the prevalence of medullary thyroid cancer in Neurofibromatosis type 1


2011 - Ultrasound mirror artifact of a thyroid nodule by trachea mimicking a tracheal mass [Articolo su rivista]
Diazzi, Chiara; Gnarini, Valentina; Brigante, Giulia; Rochira, Vincenzo
abstract

The article show how a mirror artifact generated by a thyroid nodule could mimic a tracheal mass, thus leading if not recognized to unnecessary further clinical examinations.


2011 - Unfused Epiphyses Due to Unrecognized and Untreated Congenital Hypogonadotropic Hypogonadism (HH): Evidence for an E2 Threshold for Bone Maturation in Men [Abstract in Rivista]
Rochira, Vincenzo; Antonio, Balestrieri; Zirilli, Lucia; Madeo, Bruno; Luberto, Alessandra; Carani, Cesare
abstract

The study identify a threshold for serum estradiol below which bone maturation in men is not possible.


2011 - Vitamin D deficiency is associated with type 2 diabetes mellitus in HIV infection. [Articolo su rivista]
Szep, Z; Guaraldi, Giovanni; Shah, Ss; Lo Re V., 3rd; Ratcliffe, Sj; Orlando, Gabriella; Carli, Federica; Rossi, Rosario; Rochira, Vincenzo; Tebas, P.
abstract

BACKGROUND: Metabolic complications, including type 2 diabetes mellitus and metabolic syndrome, are increasingly recognized among HIV-infected individuals. Low vitamin D levels increase the risk of type 2 diabetes mellitus, and vitamin D supplementation has been shown to decrease the risk of type 2 diabetes mellitus in patients without HIV infection.OBJECTIVES: The primary objective was to determine whether vitamin D deficiency (serum 25-hyrdoxyvitamin D <20 ng/ml) was associated with type 2 diabetes mellitus among HIV-infected patients. Our secondary objective was to determine whether vitamin D deficiency was associated with metabolic syndrome in HIV.METHODS: We conducted a cross-sectional study among participants enrolled in the prospective Modena (Italy) HIV Metabolic Clinic Cohort. Clinical and laboratory data, including history of type 2 diabetes mellitus, fasting blood glucose, components of metabolic syndrome, and 25-hydroxyvitamin D levels, were obtained for all participants.RESULTS: After adjusting for vitamin D supplementation, sex, age, body mass index, and hepatitis C virus co-infection, vitamin D deficiency was associated with type 2 diabetes mellitus [adjusted odds ratio (OR) 1.85; 95% confidence interval (CI) 1.03-3.32; P = 0.038]. The association between vitamin D deficiency and metabolic syndrome was not significant after adjusting for vitamin D supplementation, sex, age and body mass index (adjusted OR 1.32; 95% CI 1.00-1.75; P = 0.053).CONCLUSIONS: Our study demonstrates an association between vitamin D deficiency and type 2 diabetes mellitus. Clinical trials are needed to better characterize the association between vitamin D deficiency and type 2 diabetes mellitus in HIV infection and to evaluate whether vitamin D is able to prevent or delay the onset of type 2 diabetes mellitus.


2010 - Determinants of erectile dysfunction changes in HIV infected men: a prospective study. [Abstract in Rivista]
Guaraldi, Giovanni; Luzi, Kety; Zona, Stefano; Orlando, Gabriella; Carli, Federica; M., Becci; Rochira, Vincenzo; B., Amadeo; Esposito, Roberto; P., Raggi
abstract

A high prevalence of erectile dysfunction /ED) has been reported in HIV-infected men. However factors associated with ED are poorly understood and the role of antiretroviral therapy, especially PIs, is unclear. The aims of this study were to evaluate prevalence of ED and identify factors associated with improvement in ED during a mean follow up of 1.5years among 67 HIV infected men.


2010 - Effetto di uno schema di autocontrollo domiciliare sul compenso glicemico nel paziente diabetico tipo 2 non insulino-trattato [Abstract in Rivista]
Romano, Stefania; Scaltriti, Sara; Marwan El, Goch; Carani, Cesare; Rochira, Vincenzo; Madeo, Bruno
abstract

Study on the effects of self-monitoring of serum glucose on the control of Diabetes


2010 - Erectile dysfunction does not mirror sub-clinical atherosclerosis in HIV infected males. [Abstract in Rivista]
Guaraldi, Giovanni; K., Luzi; Zona, Stefano; Orlando, Gabriella; Carli, Federica; Ligabue, Guido; Rochira, Vincenzo; Rossi, Rosario; Esposito, Roberto; P., Raggi
abstract

In the general population erectile dysfunction (ED) and coronary artery disease share the same risk factors and endothelial dysfunction appear to be the common denominator. ED appears to be one of the earliest signs of systemic vascular disease and might be considered as an early marker for subclinical cardiovascular disease. We hypothesised ED as a nirror of sub-clinical atherosclerosis in HIV infected patients.


2010 - Prevalence and characterization of hypogonadism among men with human immunodeficiency virus infection: preliminary results [Abstract in Rivista]
Brigante, Giulia; Santi, Daniele; Zirilli, Lucia; Diazzi, Chiara; G., Orlando; Simoni, Manuela; Guaraldi, Giovanni; Carani, Cesare; Rochira, Vincenzo
abstract

Preliminary data on the prevalence and type of male hypogonadism in men with HIV infection


2010 - Prevalence and characterization of hypogonadism among men with human immunodeficiency virus infection: preliminary results [Abstract in Rivista]
Rochira, Vincenzo; Santi, Daniele; Brigante, Giulia; Zirilli, Lucia; Diazzi, Chiara; Orlando, Gabriella; Carani, Cesare; Guaraldi, Giovanni
abstract

Preliminary results on the prevalence of male hypogonadism in HIV-infected men


2010 - Prevalence and characterization of hypogonadism among men with human immunodeficiency virus infection: preliminary results. [Abstract in Rivista]
Rochira, Vincenzo; Brigante, Giulia; Santi, Daniele; Zirilli, Lucia; Diazzi, Chiara; Orlando, Gabriella; Carani, Cesare; Guaraldi, Giovanni
abstract

According to the preliminary results of the study HIV-infected men present a higher prevalence of hypogonadism, at a younger age than general population


2010 - Role of Calcitonin (Ct) in wash-out fluid from fine-needle aspiration (FNAB) in the diagnosis of medullary thyroid cancer (MTC): comparison with basal calcitonin, citology and pentagastrin stimulation test (Pg-Test) [Abstract in Rivista]
Rochira, Vincenzo; Diazzi, Chiara; Zirilli, Lucia; Romano, Stefania; Carani, Cesare; Madeo, Bruno
abstract

The study provides evidence on the usefulness of measurement of calcitonin into the fine needle aspiration wash-out fluid of thyroid nodules for the diagnosis of medullary thyroid cancer.


2010 - Role of Calcitonin (Ct) in wash-out fluid from fine-needle aspiration (FNAB) in the diagnosis of medullary thyroid cancer (MTC): comparison with basal calcitonin, citology and pentagastrin stimulation test (Pg-Test) [Abstract in Rivista]
Rochira, Vincenzo; Diazzi, Chiara; Zirilli, Lucia; Romano, Stefania; Carani, Cesare; Madeo, Bruno
abstract

Preliminary results regarding the role of calcitonin measurement in the wash-out fluid of thyroid fine-needle aspiration samples for the diagnosis of medullary thyroid cancer


2010 - Sex steroids and HIV-related osteoporosis in men: low circulating estrogens are associated with impaired bone mineral density (BMD) [Abstract in Rivista]
Santi, Daniele; Brigante, Giulia; Orlando, Gabriella; Ciccarese, Michela; Diazzi, Chiara; Guaraldi, Giovanni; Carani, Cesare; Rochira, Vincenzo; Madeo, Bruno
abstract

Preliminary data on the effects of sex steroids on bone max in men with HIV


2010 - Tall stature without growth hormone: four male patients with aromatase deficiency [Articolo su rivista]
Rochira, Vincenzo; Zirilli, Lucia; L., Maffei; V., Premrou; C., Aranda; M., Baldi; E., Ghigo; G., Aimaretti; Carani, Cesare; F., Lanfranco
abstract

CONTEXT: From preliminary observations, GH-IGF-I seems to be compromised in men with aromatase deficiency. The GH deficiency (GHD) coexists paradoxically with tall stature, raising the question whether or not a true GHD is part of this rare syndrome.OBJECTIVE:To evaluate the GH secretion in aromatase-deficient men, their GH response to the GHRH plus arginine (GHRH-ARG) test was compared with that of normal subjects. The effect of estrogen replacement treatment on the GH-IGF-I axis in aromatase-deficient men was evaluated before and during therapy.DESIGN AND SETTING:A case-control study was conducted.PATIENTS:Four adult men with aromatase deficiency were compared with 12 normal subjects.MAIN OUTCOME MEASURES:We measured the GH response to GHRH-ARG in aromatase-deficient men (at baseline and during estrogen treatment) and in normal subjects. Basal serum IGF-I was measured in both patients and controls.RESULTS:The response of GH to GHRH-ARG was severely impaired in men with aromatase deficiency and resulted in significantly lower (P < 0.001) levels than in normal subjects. Although normal, serum IGF-I levels were also significantly lower (P < 0.001) than in normal subjects. Both GH peak and IGF-I concentrations were not modified by estrogen therapy in men with aromatase deficiency.CONCLUSIONS:In aromatase-deficient men, GH response to potent provocative stimuli is impaired and is not restored by exogenous estrogens. Furthermore, a tall stature may be reached, notwithstanding the coexistence of GHD, if a prolonged time for growth is available due to a delay in bone maturation, and other growth factors different from GH (mainly insulin) promote growth.


2009 - Alterata secrezione basale dopo stimolo con GHRH+Arginina in quattro soggetti adulti con deficit di aromatasi: nuovi aspetti dell’azione degli estrogeni sulla funzione ipofisaria. [Abstract in Atti di Convegno]
Scaltriti, Sara; Rochira, Vincenzo; Laura, Maffei; Zirilli, Lucia; Fabio, Lanfranco; Luberto, Alessandra; Ezio, Ghigo; Carani, Cesare
abstract

In aromatase-deficient men, GH response to provocative stimuli is impaired and is not restored by exogenous estrogens. Furthermore, a tall stature may be reached, notwithstanding the coexistence of GHD.


2009 - Aromatase deficiency in men: a clinical perspective. [Articolo su rivista]
Rochira, Vincenzo; Carani, Cesare
abstract

Human aromatase deficiency is a very rare syndrome characterized by congenital estrogen deprivation that is caused by loss-of-function mutations in CYP19A1, which encodes aromatase. Here, we review the presentation, diagnosis and treatment of aromatase deficiency in men to provide useful advice for clinical management of the condition. At presentation, all men with aromatase deficiency have tall stature, delayed bone maturation, osteopenia or osteoporosis and eunuchoid skeletal proportions. Diagnosis of the condition is supported by the presence of unfused epiphyses and undetectable serum estradiol levels; the condition can be further substantiated by genetic sequencing of CYP19A1. Transdermal estradiol treatment at a daily dose of about 25 microg might be adequate for lifelong replacement therapy. BMD and levels of serum estradiol, luteinizing hormone and testosterone should be monitored carefully and considered powerful biochemical markers of adequate estrogen substitution in clinical practice. Early diagnosis is important to initiate estrogen therapy as soon after puberty as possible to avoid the skeletal complications that are associated with this condition.


2009 - Aromatase expression in peripheral blood leukocytes from adult and elderly female and male subjects [Abstract in Rivista]
Pignatti, Elisa; Rossi, Aldo; Scaltriti, Sara; Taliani, Erica; Rochira, Vincenzo; Simoni, Manuela; Carani, Cesare
abstract

Study of the expression of aromatase enzyme in peripheral blood leukocytes collected from adult and elderly female and male subjects. This suds highlights the importance of individual differences in aromatase expression as well as the differences related to different age.


2009 - Body image is a major determinant of sexual dysfunction in stable HIV-infected women. [Articolo su rivista]
Kety, Luzi; Guaraldi, Giovanni; Rita, Murri; Maria De, Paola; Orlando, Gabriella; Squillace, Nicola; Esposito, Roberto; Rochira, Vincenzo; Zirilli, Lucia; Esteban, Martinez
abstract

BACKGROUND: Prevalence and factors associated with sexual dysfunction in HIV-positive women are poorly known. METHODS: This was a cross-sectional study in a cohort of HIV-infected women. Clinically stable women were invited to participate in a female sexual dysfunction (FSD) evaluation with Female Sexual Function Index (FSFI) exploring desire, arousal, lubrication, orgasm, pain and satisfaction. An FSFI score <23 was used for defining FSD. Variables evaluated included body appearance satisfaction, interference of body changes with habits, social life and attitudinal aspects of body image, health-related quality of life, hormonal assessment, menopause, cumulative exposure to antiretroviral drug classes and immune-virological parameters. Lipodystrophy was defined according to the HIV Outpatient Study definition. RESULTS: A total of 185 women completed the FSFI. The mean (+/-SD) age was 42 years (+/-5), 27% had CDC stage C, the mean (+/-SD) CD4+ T-cell count was 508 cells/microl (+/-251) and median HIV RNA was 1.7 log10 copies/ml (interquartile range 1.7-2.6). Among 161 evaluable patients, 59 (32%) reported FSD. In a multiple linear regression analysis, desire, arousal and satisfaction domains were associated with interference of body changes with habits, social life and attitudinal aspects of body image (beta = 0.22, 95% confidence interval [CI] 0.06-0.37; beta = 0.29, 95% CI 0.10-0.48; and beta = 0.20, 95% CI 0.02-0.38, respectively). Lubrication and orgasm domains were associated with body image satisfaction (beta = -0.49, 95% CI -0.88 - -0.10 and beta = -0.58, 95% CI -1.00 - -0.16, respectively). No significant associations with sex hormones, CDC stage, CD4+ T-cell count, HIV RNA viral load and cumulative exposure to antiretroviral drug classes were found. In women with FSD, severity of self-perceived abdominal fat accumulation showed a trend towards lower FSFI scores (ANOVA P = 0.02). CONCLUSIONS: FSD was highly prevalent in this cohort. Self-perceived body changes was identified as its major determinant.


2009 - Clinical Issues in Management of Klinefelter’s Syndrome. [Relazione in Atti di Convegno]
Rochira, Vincenzo
abstract

The chapter deals with the clinical issues of Klinefelter Syndrome (KS)according to the review of the literature. In particular the phenotype of KS is discussed according to the time of the diagnosis (prenatal, neonatal, infancy, adolescence, adulthood). The possible comorbidities and their treatment associated to KS and their treatment are reviewed. The role of sex steroids on the phenotype of the disease is largely discussed.


2009 - Deficit di GH in pazienti affetti da lipodistrofia HIV-correlata: dati preliminari sugli effetti del trattamento con r-hGH sulla composizione corporea [Abstract in Atti di Convegno]
Diazzi, Chiara; Brigante, Giulia; Orlando, Gabriella; Squillace, Nicola; Guaraldi, Giovanni; Carani, Cesare; Rochira, Vincenzo; Simoni, Manuela; Zirilli, Lucia
abstract

r-hGH treatment in HIV-infected patients with documented GH deficiency seems to improve fat distribution


2009 - Differentiated Thyroid Carcinoma (DTC) in a Young Woman with Peutz-Jeghers Syndrome: are these Two Conditions Associated? [Articolo su rivista]
Zirilli, Lucia; Benatti, Piero; Romano, Stefania; Roncucci, Luca; Rossi, Giuseppina; Diazzi, Chiara; Carani, Cesare; PONZ DE LEON, Maurizio; Rochira, Vincenzo
abstract

AIMS: Peutz-Jeghers Syndrome (PJS) is a rare dominantly inherited disease characterized by hamartomatous small bowel polyposis, mucocutaneous hyperpigmentation, and increased risk of cancer. Differentiated thyroid cancers (DTCs) present mainly as sporadic, but they may have also a familial component. We present a case of PJS in a caucasian 25 years-old woman, who developed a DTC. METHODS: The patient had a palpable nodule in the right side of the thyroid region and an endocrinological evaluation, including hormonal assays, neck ultrasound (US) and fine needle aspiration (FNAB) of the nodule was performed. RESULTS: US confirmed a single nodular lesion in the right thyroid lobe (14 mm). Cytological analysis at FNAB revealed a pattern compatible with papillary thyroid carcinoma. The histological analysis after total thyroidectomy confirmed the diagnosis of a Hurtle cell variant of papillary thyroid carcinoma, with follicular architecture. CONCLUSION: Even though rare, the association between PJS and DTC can be possible. In clinical practice it must be borne in mind that the wide spectrum of possible cancer diseases occurring in PJS could also include DTC, that the latter can occur earlier in life in PJS population and with a more aggressive histological pattern. Furthermore, in patients with PJS, US of the thyroid should be performed whenever thyroid disease is suspected at physical examination or based on patient's medical history. Due to lack of established data allowing for a real esteem of the association between PJS and DTC, US of the thyroid, should not be recommended as a routine screening for all subjects with PJS.


2009 - Erratum: Body image is a major determinant of sexual dysfunction in stable HIV-infected women (Antiviral Therapy (2009) vol. 14 (85-92)) [Articolo su rivista]
Luzi, K.; Guaraldi, G.; Murri, R.; de Paola, M.; Orlando, G.; Squillace, N.; Esposito, R.; Rochira, V.; Zirilli, L.; Martinez, E.
abstract


2009 - Estrogen Resistance [Voce in Dizionario o Enciclopedia]
M., Luconi; Rochira, Vincenzo
abstract

The chapter deals with the physiology and pathophysiology of estrogen resistance in men.


2009 - Estrogeni nel maschio: una nuova fisiopatologia [Monografia/Trattato scientifico]
Rochira, Vincenzo; Scaltriti, Sara; Zirilli, Lucia; Simoni, Manuela; Carani, Cesare
abstract

The monograph deals with novel aspects of the pathophysiology of estrogens in men.


2009 - Estrogens and male reproduction [Capitolo/Saggio]
Rochira, Vincenzo; Madeo, Bruno; Zirilli, Lucia; Carani, Cesare
abstract

The chapter deals with the study of estrogen role in male reproduction, in particulare the role on hypothalamic-pituitary-gonadal axis


2009 - GH deficiency in HIV-infected patients with lipodystrophy: preliminary data on the effects of r-hGH treatment on body composition [Abstract in Rivista]
Zirilli, Lucia; Orlando, Gabriella; Brigante, Giulia; Squillace, Nicola; Diazzi, Chiara; Carani, Cesare; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

Evaluation of GH deficiency in HIV-infected patients with lipodystrophy,with particular concern to preliminary data on the effects of r-hGH treatment on body composition


2009 - Gender and gonadal function differences in the prevalence of bone mass reduction [Abstract in Atti di Convegno]
Guaraldi, Giovanni; Zona, Stefano; Fabio, Vescini; Alberto, Roverato; Orlando, Gabriella; Squillace, Nicola; Garlassi, Elisa; Luzi, Kety; Rochira, Vincenzo; Zirilli, Lucia
abstract

The role of gender and gonadal steroids in the genesis of bone loss in HIV-infected patients has been investigated. Apart from a role of estradiol end lean mass, no other gender related variables resulted associated to bone loss in both men and women with HIV.


2009 - Lipoipertrofia correlata al trattamento con Pegvisomant in due pazienti acromegalici: risultati di uno studio radiologico dettagliato sugli effetti del cambiamento del sito di iniezione del farmaco [Abstract in Atti di Convegno]
Rochira, Vincenzo; Romano, Stefania; Zirilli, Lucia; Carani, Cesare
abstract

This study evaluated the effects of changing the site of Pegvisomant injection in two acromegalic patients showing that lipohypertrophy due to Pegvisomant is reversible and it could be minimized by rotating the injection site.


2009 - Osteoporosi maschile: il ruolo degli estrogeni. [Articolo su rivista]
Madeo, Bruno; Rochira, Vincenzo; Carani, Cesare
abstract

L'osteoporosi è un problema rilevante non solo nella donna ma anche nell’ uomo. Molto si conosce sull’osteoporosi nella donna mentre ancora poco nell’uomo. Negli ultimi anni anche nel maschio gli estrogeni hanno acquisito un ruolo sempre maggiore nel metabolismo osseo tanto da essere coinvolti nell’osteoporosi correlata all’età e in quella secondaria a ipogonadismo. Questo comporta modificazioni nella pratica clinica e possibili implicazioni terapeutiche.


2009 - Patologie ipofisarie e metabolismo osseo: l’ipogonadismo maschile [Abstract in Atti di Convegno]
Rochira, Vincenzo
abstract

L'ipogonadismo che insorge a causa di patologie ipofisarie può essere causa di osteoporosi.


2009 - Reversible Pegvisomant-related lypohypertrophy and its possible recurrence at the new site of injection: a clinical and radiological outcome in two acromegalic women [Abstract in Atti di Convegno]
Rochira, Vincenzo; Zirilli, Lucia; Romano, Stefania; Brigante, Giulia; Carani, Cesare
abstract

Case series of two acromegalic women with reversible pegvisomant-related lypodistrophy documented at MRI before and after changing the site of drug injunction


2009 - Sex steroids and HIV-related osteoporosis in men: low circulating estrogens are associated with impaired bone mineral density [Abstract in Atti di Convegno]
Rochira, Vincenzo; Orlando, Gabriella; Ciccarese, Michela; Squillace, Nicola; Diazzi, Chiara; Guaraldi, Giovanni; Carani, Cesare; Zirilli, Lucia
abstract

Low circulating estrogens, but not testosterone are associated with impaired bone mineral density in HIV-related osteoporosis in men, especially when serum estradiol falls below a threshold of about 15-20 pg/mL


2009 - Sindrome di Klinefelter: fertilità [Relazione in Atti di Convegno]
Rochira, Vincenzo
abstract

The article summarize the clinical problems in the management of fertility in patients with Klinefelter Syndrome paying particular attention to the best period for the spermatogenesis (at puberty and the possibility to retrieve germinal cells into the sperm useful for cryoconservation.


2009 - Testosterone action on erythropoiesis does not require its aromatization to estrogen: Insights from the testosterone and estrogen treatment of two aromatase-deficient men. [Articolo su rivista]
Rochira, Vincenzo; Zirilli, Lucia; Madeo, Bruno; Laura, Maffei; Carani, Cesare
abstract

Androgens act on erythropoiesis, but the relative role of testosterone (T) and estradiol (E2) on erythropoieticparameters in men is a poorly investigated issue. In order to evaluate separately the effects onerythropoiesis of high-dose T administration alone and of physiological dose of E2 administration alonetwo adult men with aromatase deficiency were assessed before and during each treatment. Blood cellcount, hemoglobin (Hb), hematocrit (Hct), erythrocyte mean cell volume (MCV), erythrocyte mean corpuscularhemoglobin (MCH), erythrocyte mean corpuscular hemoglobin concentration (MCHC), serumferritin, iron and total iron-binding capacity (TIBC), serum erythropoietin, serum total testosterone andestradiolwere evaluated. Hb, Hct and red cell count rose during testosterone treatment, consistently withthe increase in circulating testosterone, but failed to increase during estradiol treatment. A decrease inHb, Hct and red cell count was recorded in one of the two subjects during estradiol treatment, with aconcomitant decrease in serum testosterone. Circulating T alone is capable of and sufficient to influenceerythropoiesis, especially at supraphysiological dosage, while circulating E2 have not the same effecton erythropoietic parameters, suggesting the hypothesis that the erythropoietic changes induced byandrogens are not mediated via its aromatization to estrogens.


2009 - Testosterone action on erythropoiesis does not require its aromatization to estrogen: insights from the testosterone and estrogen treatment of two aromatase-deficient men [Abstract in Atti di Convegno]
Rochira, Vincenzo; Zirilli, Lucia; Madeo, Bruno; Laura, Maffei; Diazzi, Chiara; Carani, Cesare
abstract

The study of testosterone and estrogen action on erythropoiesis of two aromatase-deficient men provides evidence that testosterone directly increases red cells count and that this action does not require testosterone aromatization into estradiol.


2009 - The effects of long-term raloxifene and estradiol treatments on bone in a patient with congenital aromatase deficiency. [Articolo su rivista]
Zirilli, Lucia; Maffei, L; Meunier, Pj; Chavassieux, P; Carani, Cesare; Rochira, Vincenzo
abstract

INTRODUCTION: In adult aromatase-deficient men, estrogen treatment has always resulted in a rapid skeletal maturation with epiphyseal closure and improved BMD. Raloxifene is a SERM with proven estrogen agonist action on bone that leads to an improvement in BMD and a reduction in bone turnover. The present study reports the effects of raloxifene and transdermal estradiol treatment, respectively, on epiphyseal closure and BMD in an aromatase-deficient man, over a 24-month follow-up, with the aim of obtaining further insight into the role of estrogens in the male skeletal homeostasis. MATERIALS AND METHODS: A 25-year-old Caucasian man with aromatase deficiency, a bone age of 15.3 years, unfused epiphyses and an impaired BMD was initially administered raloxifene (60 mg/day per os) for 12 months, while transdermal estradiol (25 microg twice weekly) was administered for the subsequent 12 months. During the follow-up, the effects of the two treatments on epiphyseal closure, BMD and bone turnover markers were investigated. An iliac crest bone biopsy was performed only before and after the raloxifene treatment, but it was not repeated after transdermal estradiol treatment. RESULTS: No changes in bone age were observed after raloxifene therapy, whereas a complete epiphyseal closure was achieved with transdermal estradiol treatment. Compared with baseline values, raloxifene treatment led to improved BMD both at the ultradistal forearm and 33% radius; the transdermal estradiol treatment resulted in a further slight increase in BMD at the 33% radius, but not at the ultradistal forearm. The baseline bone biopsy showed elevated bone remodelling in trabecular bone, while the second biopsy following raloxifene treatment revealed a decrease in remodelling. DISCUSSION: This study shows that the management of aromatase deficiency in the male cannot consider raloxifene as a first choice treatment, but should be still based on estrogen replacement treatment since in this patient the completion of bone maturation has only been obtained once estradiol substitution was performed. The present case also demonstrates that raloxifene is able to improve BMD in aromatase-deficient men.


2009 - Viral hepatitis co-infection is associated with reduced bone mineral density in HIV-infected women but not men [Abstract in Atti di Convegno]
Vincent Lo, Re; Guaraldi, Giovanni; Mary B., Leonard; Jennifer, Lin; Orlando, Gabriella; Squillace, Nicola; Rochira, Vincenzo; C., Giovanni; Jay R., Kostman; Pablo, Tebas
abstract

Cross-sectional study among HIV-infected subjects with viral hepatitis showing that viral hepatitis was associated with a higher risk of low BMD among HIV-infected women but not men.


2009 - Viral hepatitis is associated with reduced bone mineral density in HIV-infected women but not men. [Articolo su rivista]
Lo Re V., 3rd; Guaraldi, Giovanni; Leonard, Mb; Localio, Ar; Lin, J; Orlando, Gabriella; Zirilli, Lucia; Rochira, Vincenzo; Kostman, Jr; Tebas, P.
abstract

OBJECTIVE:: Few studies have examined the impact of viral hepatitis on bone mineral density (BMD), and none have done so among HIV-infected patients. Our objective was to determine whether viral hepatitis was associated with low BMD in HIV. DESIGN:: A cross-sectional study among 1237 HIV-infected patients (625 with viral hepatitis). METHODS:: Dual-energy X-ray absorptiometry scans of the lumbar spine and femoral neck were obtained. Clinical data, hepatitis B and C status, and markers of bone metabolism were determined at dual-energy X-ray absorptiometry scanning. Multivariable logistic regression examined the association between hepatitis and low BMD (Z-score </=-2.0 at the lumbar spine, femoral neck, or both). RESULTS:: Mean BMD Z-scores were lower among hepatitis-coinfected women at the lumbar spine {-0.15 versus +0.29; difference = -0.44 [95% confidence Interval (CI) -0.65 to -0.23]; P < 0.001} and femoral neck [-0.64 versus -0.39; difference = -0.25 (95% CI -0.44 to -0.06); P = 0.009] compared with HIV-monoinfected women. No differences in mean BMD Z-scores were observed between coinfected and monoinfected men. After adjustment for age, BMI, duration of HIV, antiretroviral use, physical activity, and smoking, viral hepatitis was associated with low BMD among women (adjusted odds ratio 2.87, 95% CI 1.31-6.29) but not men (adjusted odds ratio 1.19, 95% CI 0.74-1.91). Coinfected women had lower mean parathyroid hormone (60.1 versus 68.1 pg/ml; P = 0.02) but similar mean 25-hydroxyvitamin D (19.1 versus 19.6 ng/ml; P = 0.6) and osteocalcin (3.0 versus 3.2 ng/ml; P = 0.8) concentrations than HIV-monoinfected women. CONCLUSION:: Viral hepatitis was associated with a higher risk of low BMD among HIV-infected women but not men.


2008 - 21-hydroxylase deficiency and klinefelter syndrome in an adult man: striking a balance between androgen excess and insufficiency. [Articolo su rivista]
Balestrieri, Antonio; Zirilli, Lucia; Madeo, Bruno; Pignatti, Elisa; Rossi, Giulio; Carani, Cesare; Rochira, Vincenzo
abstract

Objective We describe the rare case of an adult man with normal virilization affected by both Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, consulting for painful gynecomastia. A complete clinical workup included endocrinological, genetic, sexological evaluation and testis histology. Genetic analyses included karyotype, CYP21 sequencing and the CAG and GGC repeat polymorphism in the androgen receptor gene. Findings KS was diagnosed by karyotype analysis (47,XXY), the testis biopsy revealed Leydig cell hyperplasia. The CAH was diagnosed by the direct detection of a I2 homozygous mutation in the CYP21 gene. The hormonal analysis revealed a mild hypergonadotropic hypogonadism, serum levels of androstenedione and ACTH above the normal range and a slightly reduced cortisol response with exaggerated 17-OH progesterone increase to ACTH stimulation. Cortisone acetate treatment disclosed a clinically relevant pre-existent hypogonadism in the relatively short time of 6 months, thus suggesting that the reduction in adrenal steroids impaired the balance in the androgen status previously created by the two syndromes. Only the combined therapy with cortisone acetate and testosterone restored a normal androgenization and a male sexual behavior. Conclusions The simultaneous occurrence of KS and CAH is extremely rare. The clinical phenotype of our patient was characterized by mild symptoms of the two syndromes, probably because the high levels of adrenal androgens due to CAH counterbalanced the partial androgen deficiency due to KS.


2008 - A novel compound heterozygous mutation of the aromatase gene in an adult man: new insights into the role of estrogen on gonadal development. [Abstract in Atti di Convegno]
Fabio, Lanfranco; Rochira, Vincenzo; Zirilli, Lucia; Matteo, Baldi; Pignatti, Elisa; Gianluca, Aimaretti; Carani, Cesare
abstract

Description of a new case of human aromatase deficiency in a man of 26 years of age and present the results of five year follow-up during trandermal estradiol (tE2) substitution, focusing on bone growth and mineralization


2008 - A novel compuond heterozigous mutation of the aromatase gene in adult man: new insights into the role of estrogen on gonadal development [Abstract in Rivista]
Fabio, Lanfranco; Zirilli, Lucia; Matteo, Baldi; Luberto, Alessandra; Pignatti, Elisa; Magnani, Francesca; Gianluca, Aimaretti; Carani, Cesare; Rochira, Vincenzo
abstract

Description of a new case of human aromatase deficiency in a man of 26 years of age and present the results of five year follow-up during trandermal estradiol (tE2) substitution, focusing on bone growth and mineralization


2008 - A novel mutation in the human aromatase gene: insights on the relationship among serum estradiol, longitudinal growth and bone mineral density in an adult man under estrogen replacement treatment. [Articolo su rivista]
Fabio, Lanfranco; Zirilli, Lucia; Matteo, Baldi; Pignatti, Elisa; Ginevra, Corneli; Ezio, Ghigo; Gianluca, Aimaretti; Carani, Cesare; Rochira, Vincenzo
abstract

Objective: Here we report on a new case of human aromatase de!ciency in a man of 26 years of age andpresent the results of !ve year follow-up during trandermal estradiol (tE2) substitution, focusing on bonegrowth and mineralization. The lack of patient's compliance to tE2 treatment, resulting in low but detectableserum estradiol levels, provides helpful information about the physiological estradiol needed in serum toguarantee a complete bone maturation and mineralization.Design: Clinical case report study.Methods: Genetic, biochemical and hormonal evaluations and the study of bone health were performedbefore and during estrogen treatment.Results: Eunuchoid body proportions, unfused epiphyses, tall stature, osteopenia, increase fasting insulin,mild astenozoospermia and a history of right cryptorchidism were present. Baseline serum FSH was slightlyabove the normal range and estradiol was undetectable. Genetic analysis revealed a pattern of compoundheterozygosity due to 23 bp deletion in exon IV and a point mutation in the !rst nucleotide of intron IX of theCYP19A1 gene, respectively. The closure of epiphyseal cartilage, the normalization of bone BMD and boneturnover markers, and the improvement of insulin levels were reached during tE2 only when serum estradiolraised above 73 pmol/L. Sperm parameters and overweight did not improve with substitutive therapy.Conclusions: This new case of aromatase de!ciency underlines the role of estrogen on skeletal maturation,BMD, metabolic abnormalities and gonadal axis. It provides evidence on the need not only of a continuousestrogen replacement, but also of ensuring adequate estradiol levels in serum in order to ensure a completebone maturation and mineralization and to prevent the worsening of body skeletal proportions. Thecomprehension of this physiological aspect has relevant clinical signi!cance especially for the developmentof new therapeutic strategies useful to treat growth disorders by targeting serum estradiol in men.


2008 - Association of serum vitamin D levels nd type 2 diabetes in HIV infection in the Modena cohort [Abstract in Rivista]
Zsofia, Szep; Guaraldi, Giovanni; Samir S., Shah; Orlando, Gabriella; Squillace, Nicola; Rochira, Vincenzo; Madeo, Bruno; Diazzi, Chiara; Baraldi, Enrica; Carani, Cesare; Esposito, Roberto; Pablo, Tebas
abstract

Metabolic complications, including type 2 diabetes mellitus and metabolic syndrome, are increasingly recognized among HIV-infected individuals. Low vitamin D levels increase the risk of type 2 diabetes mellitus. Our study demonstrates an association between vitamin D deficiency and type 2 diabetes mellitus.


2008 - Body Image is a major determinant of sexual dysfunction in stable HIV-infected women. [Abstract in Rivista]
Luzi, Kety; Guaraldi, Giovanni; Rita, Murri; Maria De, Paola; Orlando, Gabriella; Squillace, Nicola; Esposito, Roberto; Rochira, Vincenzo; Zirilli, Lucia; Esteban, Martinez
abstract

Female sexual dysfunction was highly prevalent in this cohort of HIV-infected women. Self-perceived body changes was identified as its major determinant.


2008 - Effects of Tadalafil on nocturnal penile tumescence and rigidity in normal men: randomized, placebo-controlled, crossover study [Abstract in Rivista]
Antonio R. M., Granata; Madeo, Bruno; DE MOLA, Giovanni; Guidi, Alessandro; Pugni, Valeria; Rochira, Vincenzo; Carani, Cesare
abstract

This Randomized, Placebo-Controlled, Crossover Study evaluates the effects of tadalafil on Nocturnal Penile Tumescence and Rigidity in normal men


2008 - Effects of tadalafil on Nocturnal Penile Tumescence and Rigidity in normal men: Randomized, Placebo-Controlled, Crossover Study [Abstract in Atti di Convegno]
Antonio R. M., Granata; Rochira, Vincenzo; DE MOLA, Giovanni; Guidi, Alessandro; Pugni, Valeria; Scaltriti, Sara; Simoni, Manuela; Carani, Cesare
abstract

This Randomized, Placebo-Controlled, Crossover Study evaluates the effects of tadalafil on Nocturnal Penile Tumescence and Rigidity in normal men.


2008 - Higher prevalence of nodular goiter and thyroid carcinoma in patients with familial adenomatous poliposis (FAP) [Abstract in Atti di Convegno]
Zirilli, Lucia; Romano, Stefania; Roncucci, Luca; Benatti, Piero; Madeo, Bruno; Diazzi, Chiara; Scaltriti, Sara; Carani, Cesare; PONZ DE LEON, Maurizio; Rochira, Vincenzo
abstract

The evaluation of 46 patients with familial adenomatous poliposis showed that nodular goiter is very common, and the prevalence of thyroid cancer is higher than that of a control group.


2008 - Higher prevalence of nodular goiter and thyroid carcinoma in patients with familial adenomatous poliposis (FAP) [Abstract in Rivista]
Zirilli, Lucia; Romano, Stefania; Madeo, Bruno; Carani, Cesare; Benatti, Piero; PONZ DE LEON, Maurizio; Roncucci, Luca; Rochira, Vincenzo
abstract

The evaluation of 46 patients with familial adenomatous poliposis showed that nodular goiter is very common and the prevalence of thyroid cancer is higher than that of a control group


2008 - Human models of aromatase deficiency. [Articolo su rivista]
Zirilli, Lucia; Rochira, Vincenzo; Diazzi, Chiara; Caffagni, Giovanni; Carani, Cesare
abstract

Estrogens exert a wide range of biological effects in both sexes also on non-reproductive systems andorgans. Human congenital estrogen deficiency, due to an inactivating mutation of the aromatase gene,leads to the lack of the estrogen synthesis, with gonadotropins and circulating testosterone ranging fromnormal to elevated. The aromatese-deficient females show hyperandrogenism and virilization at birthwith ambiguous genitalia. During childhood there are a dysfunction in the LHRH-LH/FSH axis and a progressivedelay in bone age. At puberty they showprimary amenorrhea, no breast development,worseningof the virilization and the absence of growth spurt. The clinical phenotype in the male affected subjectscomprises tall stature, persistent linear growth and delayed bone age, osteopenia/osteoporosis, eunuchoidbody proportion, different degrees of glucose–insulin and of fertility impairment. These phenotypes suggestthe physiological role of estrogens on the skeleton, on pituitary function, on the reproductive system,on glucose metabolism, being the precise mechanism on each of these functions not yet known in detail.The estradiol replacement treatment leads to a complete epiphyseal closure and to the skeletal maturation.Moreover, the increasing knowledge on the role of estrogen in several metabolic pathways could beimportant for a better management of several metabolic diseases.


2008 - Hypopituitarism and HIV-infection: a new comorbidity in the HAART era? [Articolo su rivista]
Zirilli, Lucia; Orlando, Gabriella; Diazzi, Chiara; Squillace, Nicola; Carani, Cesare; Guaraldi, Giovanni; Rochira, Vincenzo
abstract

Several comorbidities are associatedwith the HIV infection and may involvealso the endocrine-metabolic system. Consistently,the recent development of the therapeuticregimen highly active antiretroviraltherapy (HAART) ruled out a significant improvementboth in the prognosis and life expectancyof HIV-infected patients, but disclosedalso new serious drug-related toxicity.Of these, the lipodystrophy syndrome isthe most frequent, occurring in up to 83% ofHIV-infected patients under HAART. The HIVrelatedlipodystrophy is associated with alterationsin GH dynamics, affecting bothbasal and stimulated GH secretion. This GHIGF-I secretive pattern resembles that of severeGH deficiency in adulthood due to pituitarydiseases, but without leading to IGF-Iserum levels below the normal range. The impairmentof pituitary GH secretion has beenascribed to the hormonal and metabolic inhibitoryeffect due to adipose tissue redistributionin HIV-infected males, since in thesepatients pituitary GH secretion appeared tobe inversely related to visceral adipose tissueaccumulation and waist to-hip-ratio. However,whether these patients suffer from a true GHdeficiency due to an intrinsic pituitary failureor display only a functional reduction of GHsecretion due to visceral adiposity remainsstill a matter of debate, especially in HIV-infectedfemales.


2008 - Il ruolo degli estrogeni nel maschio [Articolo su rivista]
Rochira, Vincenzo; Scaltriti, Sara; Zirilli, Lucia; Carani, Cesare
abstract

The article reviewed all the pathophysiological aspects related to estrogen functions and dysfunctions in men.


2008 - Impaired basal and stimulated GH secretion in four aromatase-deficient adult men: new aspects of the estrogen action on pituitary function [Abstract in Atti di Convegno]
Rochira, Vincenzo; Laura E., Maffei; Zirilli, Lucia; Fabio, Lanfranco; Luberto, Alessandra; Ezio, Ghigo; Carani, Cesare
abstract

In aromatase-deficient men, GH response to potent provocative stimuli is impaired and is not restored by exogenous estrogens. Furthermore, a tall stature may be reached, notwithstanding the coexistence of GHD: the prolonged time for growth due to a delay in bone maturation, and other growth factors different from GH promote growth.


2008 - Late-Onset Triple A Syndrome: A Risk of Overlooked or Delayed Diagnosis and Management [Articolo su rivista]
Andrea, Salmaggi; Zirilli, Lucia; Chiara, Pantaleoni; Gabriella De, Joanna; Francesca Del, Sorbo; Katrin, Koehler; Manuela, Krumbholz; Angela, Huebner; Rochira, Vincenzo
abstract

BACKGROUND/AIMS: A 33-year-old man was referred for the first time to the Division of Neurology because of the presence and progression of neurological symptoms. Dysphagia, weakness, reduced tear production, and nasal speech were present. In order to point the attention of late-onset triple A syndrome we describe this case and review the literature. METHODS: Hormonal and biochemical evaluation, Schirmer test, tilt test and genetic testing for AAAS gene mutations. RESULTS: Late-onset triple A syndrome caused by a novel homozygous missense mutation in the AAAS gene (A167V in exon 6) was diagnosed at least 17 years after symptom onset. CONCLUSIONS: The association between typical signs and symptoms of triple A syndrome should suggest the diagnosis even if they manifest in adulthood. The diagnosis should be confirmed by Schirmer test, endocrine testing (both basal and dynamic), genetic analysis, and detailed gastroenterological and neurological evaluations. Awareness of the possible late onset of the disease and of diagnosis in adulthood is still poor among clinicians, the acquaintance with the disease is more common among pediatricians. The importance of an adequate multidisciplinary clinical approach, dynamic testing for early diagnosis of adrenal insufficiency and periodical reassessment of adrenal function are emphasized.


2008 - Subclinical coronary artery atherosclerosis and endothelial dysfunction are not predictors of erectile dysfunction in HIV-infected males [Abstract in Rivista]
Zona, Stefano; Luzi, Kety; Murri, R.; Granata, A.; Orlando, Gabriella; Squillace, Nicola; Ligabue, Guido; Rochira, Vincenzo; Rossi, Rosario; Guaraldi, Giovanni
abstract

To evaluate the association between erectile dysfunction and subclinical coronary artery atherosclerosis to endothelial dysfunction in HIV-infected people.


2008 - Tadalafil and sleep-related erections in normal men: randomized, placebo-controlled, crossover study [Abstract in Rivista]
Antonio R. M., Granata; Madeo, Bruno; DE MOLA, Giovanni; Guidi, Alessandro; Pugni, Valeria; Rochira, Vincenzo; Carani, Cesare
abstract

This randomized, placebo-controlled, crossover study evaluated the effect of tadalafil on sleep-related erections in normal men


2008 - Tadalafil and sleep-related erections in normal men: randomized, placebo-controlled, crossover study. [Abstract in Rivista]
Antonio R. M., Granata; Madeo, Bruno; DE MOLA, Giovanni; Guidi, Alessandro; Pugni, Valeria; Rochira, Vincenzo; Carani, Cesare
abstract

This randomized, placebo-controlled, crossover study evaluated the effect of Tadalafil on sleep-related erections in normal men.


2008 - The effects of citalopram and fluoxetine on sexual behavior in healthy men: evidence of delayed ejaculation and unaffected sexual desire. A randomized, placebo-controlled, double-blind, double-dummy, parallel group study. [Articolo su rivista]
Madeo, Bruno; Paolo, Bettica; Stefano, Milleri; Balestrieri, Antonio; Antonio R. M., Granata; Carani, Cesare; Rochira, Vincenzo
abstract

INTRODUCTION: Selective serotonin reuptake inhibitors (SSRIs) are known to induce delayed orgasm and delayed ejaculation, while their effect on other aspects of sexual function, such as sexual motivation, arousal, and erectile function are unclear. AIM: In order to evaluate the effect of chronic administration of two SSRIs, citalopram and fluoxetine, on normal sexual function, we studied the parameters of male sexual behavior, erectile function, and ejaculation on 48 healthy male volunteers, aged 29.5 +/- 4.9, in a randomized, placebo-controlled, double-blind, double-dummy study. Methods. The subjects were randomized to receive placebo (16 subjects), or fluoxetine (20 mg/day) (16 subjects) or citalopram (20 mg/day) for the first week, and 40 mg/day in the following 3 weeks (16 subjects). MAIN OUTCOME MEASURES: Sexual function was investigated at the screening and at the end of the study by means of test of penile erection (TPE) and masturbation ejaculation latency time (MELT) performed during visual erotic stimulation, and at each visit by self-filled questionnaires (International Index Erectile Function [IIEF-15] and Golombock Rust Inventory of Sexual Satisfaction [GRISS]). RESULTS: All the erectile parameters, evaluated by means of RigiScan Plus during TPE, were not significantly different when both fluoxetine and citalopram were compared with placebo. A delay in the ejaculation time was observed both during citalopram and during fluoxetine treatment when compared with placebo, reaching a statistical significance only with citalopram. During the treatment with citalopram and fluoxetine, the IIEF-15 score of all items decreased except for those items related to sexual desire; however, the scores were significantly lower only for the citalopram treatment. CONCLUSIONS: The treatment with citalopram or with fluoxetine was confirmed to delay ejaculation, but was significant only for citalopram. Citalopram and fluoxetine did not affect sexual desire. Citalopram and fluoxetine did not directly affect penile erection as objectively assessed by RigiScan, although an impairment in the subjective assessment of erectile function was observed, but was significant only for citalopram, and it was thought to be a possible consequence of the delayed ejaculation perceived as a trouble.


2007 - A novel compound heterozygous mutation of the aromatase gene in an adult man: a reinforced evidence on the relationships among congenital estrogen deficiency, adiposity and the metabolic syndrome [Abstract in Rivista]
Luberto, Alessandra; Rochira, Vincenzo; Zirilli, Lucia; Pignatti, Elisa; Evan R., Simpson; Laura E., Maffei; Carani, Cesare
abstract

The fourth case of an adult man affected by aromatase deficiency resulting from a novel homozygous inactivating mutation of the CYP19 (P450arom) gene.The patient presented a complex dysmetabolic syndrome that improved after estrogen replacement treatment


2007 - A novel compound heterozygous mutation of the aromatase gene in an adult man: new insight into the role of estrogen on gonadal development [Abstract in Rivista]
Luberto, Alessandra; Fabio, Lanfranco; Matteo, Baldi; Gianluca, Aimaretti; Rochira, Vincenzo; Pignatti, Elisa; Magnani, Francesca; Ezio, Ghigo; Carani, Cesare
abstract

Description of a new case of human aromatase deficiency in a man of 26 years of age and present the results of five year follow-up during trandermal estradiol (tE2) substitution, focusing on goandal development


2007 - A novel compound heterozygous mutation of the aromatase gene in an adult man: reinforced evidence on the relationship between congenital oestrogen deficiency, adiposity and the metabolic syndrome. [Articolo su rivista]
L., Maffei; Rochira, Vincenzo; Zirilli, Lucia; P., Antunez; C., Aranda; B., Fabre; M. L., Simone; Pignatti, Elisa; E. R., Simpson; S., Houssami; C. D., Clyne; Carani, Cesare
abstract

Abstract:Summary Background  Descriptions of new cases of human aromatase deficiency are useful for a better understanding of male oestrogen pathophysiology, as some aspects remain controversial. Objective  To present a new case of an adult man affected by aromatase deficiency, along with a description of clinical phenotype, and hormonal and genetic analysis. Design  Case report study. Patient  A 25-year-old man with continuing linear growth, eunuchoid body habitus and diffuse bone pain. Measurements  Amplification and sequencing of all coding exons with their flanking intronic sequences of the CYP19A1 gene. Aromatase expression of the mutant human cDNAs was compared with wild type. Serum LH, FSH, testosterone, oestradiol, insulin, glucose, glycosylated haemoglobin (HbA1c), serum lipids and liver enzymes were measured. Histological analysis of liver and testis biopsies was performed. Results  Two novel heterozygous compound inactivating mutations of the CYP19A1 gene were disclosed. The first mutation is at bp380 (T→G) in exon IV and the second one at bp 1124 (G→A) in exon IX. LH and testosterone were normal, FSH was slightly elevated, and serum oestradiol undetectable. The subject showed a metabolic syndrome characterized by abdominal obesity, hyperinsulinaemia, acanthosis nigricans and nonalcoholic fatty liver disease. Conclusions  These novel mutations improve our knowledge on genetics of the CYP19A1 gene. This new case of aromatase deficiency sheds new light on the heterogeneity of mutations in the CYP19A1 gene causing loss of function of the aromatase enzyme. The evidence of metabolic syndrome and of obesity associated with congenital oestrogen deprivation emphasizes the role of oestrogens in fat accumulation and distribution in men, a role that has long been partially overlooked in these patients.


2007 - Effect of Age and Testosterone on Sleep Related Erections [Abstract in Atti di Convegno]
Antonio R. M., Granata; Rochira, Vincenzo; Pugni, Valeria; Luberto, Alessandra; DE MOLA, Giovanni; Madeo, Bruno; Zirilli, Lucia; Carani, Cesare
abstract

The abstract deals with the decline of NPTRM parameters that are due to aging and, at least in part, depends on serum testosterone


2007 - Effect of age and testosterone on sleep related erections [Abstract in Rivista]
Antonio R. M., Granata; Rochira, Vincenzo; Madeo, Bruno; Pugni, Valeria; Zirilli, Lucia; Carani, Cesare
abstract

The abstract deals with the effects of aging and testosterone decline on sleep-related erections in men


2007 - Estrogènes chez l’homme: le modèle du déficit en aromatase. [Abstract in Atti di Convegno]
Carani, Cesare; Diazzi, Chiara; Luberto, Alessandra; Rochira, Vincenzo
abstract

Estrogen role on adult male studied on the basis of human model of congenital estrogen deficiency: aromatase deficiency and estrogen resistance


2007 - Fisiologia del desiderio sessuale. [Capitolo/Saggio]
Zirilli, Lucia; Rochira, Vincenzo; Antonio R. M., Granata; Carani, Cesare
abstract

The chapter of the book deals with the effects of hormones on human sexuality in both men and women, with particular regard to androgens and their role on sexual desire/interest


2007 - Il deficit congenito di aromatasi [Relazione in Atti di Convegno]
Carani, Cesare; Scaltriti, Sara; Zirilli, Lucia; Rochira, Vincenzo
abstract

The abstract deals with the issue of the Congress Talk on human cases of aromatase deficiency and estrogen resistance in men.


2007 - Impairment of GH response to GHRH+Arginine in women affected by HIV-related adipose tissue redistribution syndrome (HARS) [Abstract in Rivista]
Rochira, Vincenzo; Zirilli, Lucia; Orlando, Gabriella; Caffagni, Giovanni; Squillace, Nicola; Diazzi, Chiara; Madeo, Bruno; Guaraldi, Giovanni; Carani, Cesare
abstract

This study suggests that relative GH deficiency is common among females with HIV-related lipodystrophy if compared with matched controls.


2007 - Le metastasi polmonari da tumori della tiroide: diagnosi e terapia. [Capitolo/Saggio]
Diazzi, Chiara; Zirilli, Lucia; Madeo, Bruno; Sanguanini, Alessia; Carani, Cesare; Rochira, Vincenzo
abstract

The chapter deals with the lung metastases due to thyroid cancer and particularly it regards the diagnostic and therapeutic aspects.


2007 - Oestradiol replacement treatment and glucose homeostasis in two men with congenital aromatase deficiency: evidence for a role of oestradiol and sex steroids imbalance on insulin sensitivity in men. [Articolo su rivista]
Rochira, Vincenzo; B., Madeo; L., Zirilli; G., Caffagni; Laura, Maffei; C., Carani
abstract

AIMS: The role of sex steroids in glucose and insulin metabolism in men remains unclear. To investigate the effects of sex steroids and oestrogen on insulin sensitivity in men, we studied two male adults with aromatase deficiency (subject 1 and subject 2). METHODS: The effects of transdermal oestradiol (tE(2)) treatment at different dosages on insulin sensitivity were studied before tE(2) treatment (phase 1), and after 6 months (phase 2) and 12 months of tE(2) treatment (phase 3) by means of homeostasis model assessment-insulin resistance (HOMA-IR) and Quantitative Insulin Sensitivity Check Index (QUICKI), insulin tolerance test (ITT), and oral glucose tolerance test (OGTT). The latter was performed only in subject 1, as subject 2 suffered from Type 2 diabetes. RESULTS: The restoration of normal serum oestradiol led to improved insulin sensitivity, as shown by changes in HOMA-IR and QUICKI. The ITT provided evidence of improved insulin sensitivity during tE(2) treatment. Insulin secretion after OGTT was reduced during tE(2) treatment in subject 1. After 12 months of tE(2) treatment, insulin sensitivity was improved compared with in phases 1 and 2. CONCLUSIONS: The study suggests a direct involvement of oestrogens in insulin sensitivity, and supports a possible role of oestradiol : testosterone ratio, which may be as influencial as the separate actions of each sex steroid on glucose homeostasis.


2007 - Preliminary Results of Thyroid Disease Screening Program "Ambulatorio Mobile" of 6153 Thyroid Ultrasounds Performed on the Population of a Geographical Area in Belarus Contaminated by Chernobyl Accident. [Abstract in Atti di Convegno]
Zirilli, Lucia; Rochira, Vincenzo; Andrei, Alekseev; Natalia, Antanovich; Madeo, Bruno; Sanguanini, Alessia; Scaltriti, Sara; Romano, Stefania; Pignatti, Elisa; Massimotosti, Balducci; Carani, Cesare
abstract

The abstract deals with the effects of Chernobyl release of 131I on thyroid volume in subjects exposed to the fall-out. In particular no difference in thyroid volume was found as a consequence of 131I exposure.


2007 - Preliminary results of thyroid disease screening program “Ambulatorio Mobile” of 6153 thyroid ultrasounds performed on the population of a geographical area in Belarus contamined by Chernobyl accident [Abstract in Rivista]
Zirilli, Lucia; Andrei, Alekseev; Natalia, Antanovich; Madeo, Bruno; Sanguanini, Alessia; Scaltriti, Sara; Romano, Stefania; Pugni, Valeria; Carani, Cesare; Massimo Tosti, Balducci; Rochira, Vincenzo
abstract

The radio iodine exposure does not influence thyroid volume not it changes the predictor (age, sex, BMI, body area surface) of thyroid volume.


2007 - Relevance of unitary clinical and diagnostic management for evaluation of cervical lymphadenopathy [Abstract in Rivista]
Rochira, Vincenzo; Madeo, Bruno; Romano, Stefania; Zirilli, Lucia; Antonio R. M., Granata; Borghi, Francesca; DE MOLA, Giovanni; Katia, Cioni; Carani, Cesare
abstract

This study evaluated the relevance of a unitary clinical approach to cervical lymphnodes lesions.


2007 - Role of sex steroids and nitric oxide in male sexual function [Abstract in Rivista]
Rochira, Vincenzo
abstract

Nitric oxide (NO) is the main final effector for penile erection achievement and maintenance in men and it constitutes a crucial target for therapeutical strategies addressed to the treatment of erectile dysfunction. The role of sex steroids penile NO pathway is still unclear, but some data suggest a positive role of androgens. In order to study the effects of sildenafil on human sleep- related erections according to the state of androgenization, we recently evaluated the effects of sildenafil (S) or placebo (P) on sleep-related erections in hypogonadal (H) men with very low testosterone levels: !200ng/dl (6.93nmol/L), before (HKT) and during (HCT) testosterone replacement treatment (T) and in control (C) subjects. Sleep-related erections were impaired in hypogonadal men before testosterone treatment (HKTCP) when compared with control subjects taking placebo (CCP). Testosterone alone (HCTCP) and sildenafil alone (HKTCS) restored normal sleep related erections, however, the combined treatment (sildenafil C testosterone) resulted in the maximum positive effect on sleep-related erections parameters. The effects of testosterone plus sildenafil resulted higher than the sum of the effects of both drugs used alone. Sildenafil administered at bedtime improves sleep-related erections in hypogonadal men, suggesting that the nitric oxide pathway may be pharmacologically enrolled and enhanced despite low serum testosterone. Furthermore, these data strongly support the idea of a synergic effect of sildenafil and testosterone on sleep-related erections. In clinical practice this concept is supported by the evidence that testosterone treatment restores sildenafil efficacy in subjects with erectile dysfunction and low to low-normal serum testosterone, who were non-responder to sildenafil alone. The combined treatment seems to be efficacious also in subjects with metabolic diseases such as diabetes mellitus. Whether or not estrogens are able to modulate NO pathway within the penile tissue remains to be ascertained in detail, but an androgen-estrogen cross-talk seems to be involved in the pathophysiology of male penile erection, but concerning estrogens dose-response and in vivo studies are lacking.


2007 - Skeletal effects of long-term estrogen and testosterone replacement treatment in a man with congenital aromatase deficiency: evidences of a priming effect of estrogen for sex steroids action on bone. [Articolo su rivista]
Rochira, Vincenzo; Zirilli, Lucia; Madeo, Bruno; C., Aranda; Caffagni, Giovanni; B., Fabre; Ve, Montangero; Eja, Roldan; L., Maffei; Carani, Cesare
abstract

The relative contribution of each sex steroid (i.e. estrogen and androgen) on bone in men and the relationships among sex steroids and changes in BMD and bone strength are still unknown. A defective BMD of bone tissue is constantly present in men with aromatase deficiency. This study evaluates the effects of different regimens of treatment with sex steroids over 7.3 years follow-up on BMD in an adult man affected by aromatase deficiency and by a concomitant mild hypogonadism, as previously described. The aim of the study is to provide additional data on the relative roles of androgens and estrogens in male bone metabolism. The effects of testosterone (T) treatment alone and estrogen (tE2) treatment alone as well as the effects of the combined treatment with testosterone and estradiol (T plus tE2) on areal BMD (aBMD) at dual-energy X-ray absorptiometry (DXA) and the effects of T plus tE2 on volumetric BMD (vBMD), particular at cortical site, measured by peripheral quantitative computed tomography (pQCT), are investigated. Hormones and markers of bone turnover were monitored during all phases of the study. Treatment with tE2 normalized serum estradiol, but only the combined treatment with T plus tE2 normalized both serum estradiol and testosterone. Markers of bone turnover reached a pattern close to normality during T plus tE2. The aBMD was little modified by T, but increased more during tE2. T plus tE2 resulted in a further increase in both aBMD at DXA and vBMD at pQCT. Cortical thickness increased during T plus tE2 both in radius and tibia. Only the combined treatment led to optimal parameters of aBMD suggesting that testosterone needs estrogens as a permissive factor for a direct androgen anabolic action on bone in men.


2007 - The osteoporotic male: overlooked and undermanaged? [Articolo su rivista]
Madeo, Bruno; Zirilli, Lucia; Caffagni, Giovanni; Diazzi, Chiara; Sanguanini, Alessia; Pignatti, Elisa; Carani, Cesare; Rochira, Vincenzo
abstract

Age-related bone loss in men is a poorly understood phenomenon, although increasing data on the pathophysiology of bone in men is becoming available. Most of what we know on bone pathophysiology derives from studies on women. The well-known association between menopause and osteoporosis is far from been disproven. However, male osteoporosis is a relatively new phenomenon. Its novelty is in part compensated for by the number of studies on female osteoporosis and bone pathophysiology. On the other hand, the deeper understanding of female osteoporosis could lead to an underestimation of this condition in the male counterpart. The longer life-span exposes a number of men to the risk of mild-to-severe hypogonadism which in turn we know to be one of the pathogenetic steps toward the loss of bone mineral content in men and in women. Hypogonadism might therefore be one among many corrigible risk factors such as cigarette smoking and alcohol abuse against which clinicians should act in order to prevent osteoporosis and its complications. Treatments with calcium plus vitamin D and bisphophonates are widely used in men, when osteoporosis is documented and hypogonadism has been excluded. The poor knowledge on male osteoporosis accounts for the lack of well shared protocols for the clinical management of the disease. This review focuses on the clinical approach and treatment strategy for osteoporosis in men with particular attention to its relationship with male hypogonadism.


2006 - A novel compound heterozigous mutation of the aromatase gene in an adult man [Abstract in Atti di Convegno]
Laura, Maffei; Rochira, Vincenzo; Evan R., Simpson; Simone, Maria Luisa; Claudio, Aranda; Bibiana, Fabre; M., Stivel; Luberto, Alessandra; Antonio, Balestrieri; Pignatti, Elisa; Paula, Antunez; Carani, Cesare
abstract

Descriptions of a new case of human aromatase deficiency useful for a better understanding of male oestrogen pathophysiology


2006 - A novel compound heterozigous mutation of the aromatase gene in an adult manl [Abstract in Atti di Convegno]
Laura, Maffei; Rochira, Vincenzo; Evan R., Simpson; Simone, Maria Luisa; Claudio, Aranda; Bibiana, Fabre; Mirta, Stivel; Luberto, Alessandra; Antonio, Balestrieri; Pignatti, Elisa; Paula, Antunez; Carani, Cesare
abstract

Descriptions of a new case of human aromatase deficiency useful for a better understanding of male oestrogen pathophysiology


2006 - Analisi di una serie di esami citologici da agoaspirato tiroideo ecoguidato eseguiti in bambini, adolescenti ed adulti in un’area geografica della Bielorussia contaminata dall’incidente di Chernobyl [Abstract in Atti di Convegno]
Madeo, Bruno; Andrei, Alekseev; Natalia, Antanovich; Zirilli, Lucia; Vaccari, Vittoria; Diazzi, Chiara; Scaltriti, Sara; Luberto, Alessandra; Rochira, Vincenzo; Carani, Cesare; Massimo Tosti, Balducci
abstract

Analysis of 285 FNAB of thyroid nodules in a population living in a rural area exposed to radiation after Chernobyl radiation accident.


2006 - Antiestrogeni e inibitori dell’aromatasi nel trattamento dell’infertilità maschile. [Relazione in Atti di Convegno]
Madeo, Bruno; Antonio, Balestrieri; Scaltriti, Sara; Pugni, Valeria; Zirilli, Lucia; Antonio R. M., Granata; Rochira, Vincenzo; Carani, Cesare
abstract

The possible use of antiestrogens for the treatment of male infertility is reviewed.


2006 - Aromatase is differentially expressed in peripheral blood leukocytes from children, and adult female and male subjects [Articolo su rivista]
Alessandra, Vottero; Rochira, Vincenzo; Marzia, Capelletti; Isabella, Viani; Zirilli, Lucia; Tauro M., Neri; Carani, Cesare; Sergio, Bernasconi; Lucia, Ghizzoni
abstract

Objective: Aromatase. the key enzyme involved in estrogen synthesis, is expressed in a variety of cells and tissues including human peripheral blood leukocytes (PBLs). The present study was designed to evaluate 1:1131, aromatase gene expression in male and female subjects of different age groups. In addition. differences in gene expression during the follicular and luteal phase of the menstrual cycle in women, and before and after testosterone administration in men. were estimated. Design: Aromatase mRNA and protein were measured in PBLs obtained from young (n = 10) and postmenopausal women (n = 10). men (n = 15), and prepubertal children (n = 10). Aromatase mRNA and protein were also measured during the follicular and luteal phases of the menstrual cycle in women. and before and after the intramuscular administration of 250mg testosterone enanthate in men. Methods and Results: Aromatase mRNA measured by real-time PCR in PBLs from women during the follicular phase was significantly higher than during the luteal phase of the menstrual cycle (P < 0.05). In men. PBL aromatase mRNA values increased significantly following testosterone administration (P < 0.05). PBL mRNA aromatase levels in women during the follicular phase and men after testosterone administration were significantly higher (one-way ANOVA: P < 0.05) than in any other group. Children, postmenopausal women, and women during the luteal phase showed the lowest aromatase mRNA expression. The results of the immunoblot analysis confirmed the data obtained by real-time PCR. A positive correlation between PBL aromatase mRNA values and plasma estradiol and estrone levels during the follicular phase of the menstrual cycle was observed in the group of adult women. No other correlations were found. Conclusions: The aromatase gene is differentially expressed in PBLs from women, men, and prepubertal children, indicating a sexual dimorphism in the enzyme expression and an important role of sex steroids in the modulation of aromatase gene expression.


2006 - Carcinoma papillare e Sindrome di Peutz-Jeghers: una rara associazione [Abstract in Atti di Convegno]
Rochira, Vincenzo; Romano, Stefania; Zirilli, Lucia; Madeo, Bruno; Caffagni, Giovanni; Diazzi, Chiara; Valeria, Pugni; Pignatti, Elisa; Roncucci, Luca; PONZ DE LEON, Maurizio; Carani, Cesare; Benatti, Piero
abstract

Case report of a patient with Peutz-Jeghers syndrome and concomitant papillary thyroid cancer that indicates that thyroid cancer might be more frequent in patients with Peutz-Jeghers


2006 - Déficit d'aromatase chez l'homme [Articolo su rivista]
Carani, Cesare; Laura, Maffei; Rochira, Vincenzo
abstract

Cet exposé est centré sur le rôle des estrogènes chez l’homme et considère deux modèles de déficit congénital d’estrogènes : le déficit d’aromatase et la résistance aux estrogènes. Les similitudes et les différences des phénotypes cliniques desdits modèles ont été déjà décrites et il a été rendu compte de progrès lors de traitements par estrogènes chez l’homme avec déficit d’aromatase.


2006 - Effect of age and testosterone on sleep related erctions [Abstract in Rivista]
Antonio R. M., Granata; Rochira, Vincenzo; Madeo, Bruno; Valeria, Pugni; Zirilli, Lucia; Carani, Cesare
abstract

Study of the effect of age and testosterone on sleep related erctions


2006 - Effects of carbohydrate counting on glycaemic control on patients with type I diabetes with glargine in a basal/bolus multiple daily insulin regimen [Abstract in Rivista]
Zirilli, Lucia; Madeo, Bruno; Franco, Ghini; Patrizia, Toschi; Rochira, Vincenzo; Scaltriti, Sara; Patrizia, Tondi; Chiara, Pacchioni; Carani, Cesare; Augusto, Baldini
abstract

Carbohydrate counting improves glycaemic control in patients with type I diabetes treated with glargine in a basal/bolus multiple daily insulin regimen


2006 - Hpothalamic Pituitary Gonadal Axis (HPG-A) in two men with aromatase deficiency: evidence of estrogen need for the integrity of negative feedback at hypothalamic level [Abstract in Atti di Convegno]
Zirilli, Lucia; Laura, Maffei; Antonio, Balestrieri; Claudio, Aranda; Bibiana, Fabre; Paula, Antunez; Diazzi, Chiara; Antonio R. M., Granata; Carani, Cesare; Rochira, Vincenzo
abstract

Estrogen administration to aromatase deficient men discloses a feedback modulation both at pituitary and hypothalamic level which was greater than that exerted by testosterone


2006 - Human Models of aromatase deficiency [Abstract in Atti di Convegno]
Carani, Cesare; Zirilli, Lucia; Rochira, Vincenzo
abstract

The phenotypes of aromatase deficiency suggest the physiological role of estrogens on the skeleton, on pituitary function, on the reproductive system and on glucose metabolism


2006 - Hypothalamic pituitary gonadal axis (HPG-A) in two men with aromatase deficiency: evidence of estrogen need for the integrity of negative feedback at hypothalamic level [Abstract in Atti di Convegno]
Carani, Cesare; Zirilli, Lucia; Laura, Maffei; Antonio, Balestrieri; Claudio, Aranda; Bibiana, Fabre; Paula, Antunez; Diazzi, Chiara; Antonio R. M., Granata; Rochira, Vincenzo
abstract

Estrogen administration to aromatase deficient men discloses a feedback modulation both at pituitary and hypothalamic level


2006 - Hypothalamic pituitary gonadal axis in two men with aromatase deficiency: evidence of estrogen need for the integrity of negative feedback at hypothalamic level [Abstract in Rivista]
Zirilli, Lucia; Laura, Maffei; Balestrieri, Antonio; Claudio, Aranda; Viviana, Fabre; Paula, Antunez; Diazzi, Chiara; Antonio R. M., Granata; Rochira, Vincenzo; Carani, Cesare
abstract

Estrogen administration to aromatase deficient men discloses a feedback modulation both at pituitary and hypothalamic level suggesting that estradion but not testosterone is the main sex steroid involved in the control of gonadotropins secretion


2006 - Hypothalamic-pituitary-gonadal axis in two men with aromatase deficiency: evidence that circulating estrogens are required at the hypothalamic level for the integrity of gonadotropin negative feedback [Articolo su rivista]
Rochira, Vincenzo; Zirilli, Lucia; Genazzani, Alessandro; A., Balestrieri; Claudio, Aranda; Bibiana, Fabre; Paula, Antunez; Diazzi, Chiara; Carani, Cesare; Laura, Maffei
abstract

Background: In men, the feedback of gonadotropins is regulated by estrogens that come from the aromatization of testosterone, but the relative contribution to the inhibition of LH and FSH secretion by the amount of locally produced estrogens within the hypothalamus and/or the pituitary, and the amount of circulating estrogens still remains unknown. Objective: In order to evaluate the effect of regulation induced by estradiol on the hypothalamic-pituitary-gonadal (HPG) axis, we studied the pulsatility of LH and FSH in two aromatase-deficient men (called subject 1 and subject 2), in which the production rate of estrogen (both local and circulating) is completely, or at least severely, impaired. Design: FSH and LH were evaluated in terms of their pulsated secretion and as GnRH-stimulated secretion in two phases: phase 1, before estrogen treatment; and phase 2, during estrogen treatment with 25 mu g transdermal estradiol twice weekly. Methods: Blood samples were taken during phase I and phase 2 at 0800 h for basal measurements of LH, FSH, inhibin B, testosterone, and estradiol. The analysis of the pulsatility of LH and FSH was performed by sampling every 10 min for 8 h in the two phases. Gonadotropin response to GnRH-stimulation test was studied by serial standard sampling after 100 mu g GnRH i.v. bolus in phases 1 and 2. Results: Estrogen treatment led to a significant reduction in both LH-pulsated frequency (7.5 +/- 0.7 in phase 1, 4.5 +/- 0.7 in phase 2) and amplitudes (3.5 +/- 0.006 in phase 1, 1.9 +/- 0.4 in phase 2) of peaks, whereas FSH showed only a conspicuous reduction in serum levels and a trend towards the reduction of the amplitudes of its peaks without modification of the frequency of the pulses. Both testosterone and gonadotropins decreased during phase 2, whereas estradiol reached the normal range in both subjects. Transdermal estradiol treatment significantly lowered the peaks of both serum LH and FSH after GnRH as well as the incremental area under the curve after GnRH administration in both subjects. Basal serum inhibin B levels were slightly higher before transdermal estradiol treatment (phase 1) than during estrogen treatment (phase 2) in both subjects. Conclusions: The administration of estrogen to aromatase-deficient men discloses the effects of circulating estrogens on LH secretion, exerted both at pituitary level, as shown by the decrease of basal and GnRH-stimulated secretion of LH and the LH pulsed amplitude, and at hypothalamic level as shown by the reduction of the frequency of LH pulses. The present study, coupling the outcomes of basal, GnRH-stimulated and the pulsatile evaluation of LH and FSH secretion in two aromatase-deficient men, demonstrates that circulating estrogens play an inhibitory role in LH secretion by acting on the hypothalamus and the pituitary gland of men. The discrepancy among testosterone levels, the arrest of spermatogenesis and a slightly inappropriate respective increase of serum FSH (lower than expected) suggests a possible role of estrogens in the priming and the maturation of HPG axis in men, an event that has never occurred in these two subjects as a consequence of chronic estrogen deprivation.


2006 - Il Sildenafil e il Testosterone migliorano le erezioni correlate al sonno in maschi ipogonadici, con effetto sinergico se assunti in combinazione: studio randomizzato, placebo-controllato, crossover. [Relazione in Atti di Convegno]
Rochira, Vincenzo; Madeo, Bruno; Antonio, Balestrieri; Antonio R. M., Granata; Zirilli, Lucia; Sanguanini, Alessia; Carani, Cesare
abstract

Not available


2006 - Impaired GH secretion in women with HIV-related lipodystrophy [Abstract in Rivista]
Rochira, Vincenzo; Zirilli, Lucia; Diazzi, Chiara; Caffagni, Giovanni; Antonio, Balestrieri; Antonio R. M., Granata; Maria C., De Santis; Orlando, Gabriella; Squillace, Nicola; Guaraldi, Giovanni; Carani, Cesare
abstract

Women with HIV-related lipodystrophy show impaired GH after GHRH+Arginine


2006 - Impaired GH secretion in women with HIV-related lipodystrophy [Abstract in Rivista]
Rochira, Vincenzo; Zirilli, Lucia; Madeo, Bruno; Caffagni, Giovanni; Sanguanini, Alessia; Antonio R. M., Granata; Maria C., De Santis; Orlando, Gabriella; Squillace, Nicola; Guaraldi, Giovanni; Carani, Cesare
abstract

Women with HIV-related lipodystrophy present an impaired GH secretion at the stimulation test with GHRH+Arginine


2006 - Impaired growth hormone secretion in women with HIV-related lipodystrophy [Abstract in Rivista]
Guaraldi, Giovanni; Orlando, Gabriella; Squillace, Nicola; Rochira, Vincenzo; Zirilli, Lucia; Diazzi, Chiara; Caffagni, Giovanni; Antonio, Balestrieri; Antonio R. M., Granata; Maria C., De Santis; Carani, Cesare
abstract

Women with HIV-related lipodystrophy show impaired GH secretion at the stimulation test with GHRH+Arginine


2006 - Impatto del conteggio dei carboidrati sul compenso glicemico di pazienti con diabete tipo I in trattamento insulinico sostitutivo secondo uno schema bolus-basale [Abstract in Rivista]
Madeo, Bruno; Franco, Ghini; Patrizia, Toschi; Rochira, Vincenzo; Scaltriti, Sara; Vania, Salvioli; Carani, Cesare; Chiara, Pacchioni
abstract

Carbohydrate counting improves glycaemic control on patients with type I diabetes with glargine in a basal/bolus multiple daily insulin regimen


2006 - Importanza della gestione unitaria nel management clinico-diagnostico dei linfonodi del collo sospetti per patologia neoplastica. [Abstract in Atti di Convegno]
Rochira, Vincenzo; Madeo, Bruno; Romano, Stefania; Zirilli, Lucia; Antonio R. M., Granata; Montanini, Vanna; Katia, Cioni; Carani, Cesare
abstract

Study of the relevance of unified clinical and diagnostic management of suspicious neck lymph nodes based. The comparison of subjects evaluated by the radiologist and endocrinologist with dose managed only by the endocrinologist showed a better outcome in terms of early diagnosis provided by the latter type of organization.


2006 - L’ambulatorio mobile di Modena per il controllo delle patologie tiroidee [Articolo su rivista]
Rochira, Vincenzo
abstract

not available


2006 - Osteoporosis and male age-related hypogonadism: role of sex steroids on bone (patho)physiology [Articolo su rivista]
Rochira, Vincenzo; Balestrieri, Antonio; Madeo, Bruno; Zirilli, Lucia; Antonio R. M., Granata; Carani, Cesare
abstract

Male age-related bone loss is caused, at least, in part, by hypogonadism that, Occurs with advancing age. The Study of the effects of sex steroids on bone physiology in men has recently highlighted the central role of estrogens on bone pathophysiology. This review focuses on particular aspects of bone physiology and pathophysiology in aging men, noting both the similarities to and the differences from female counterparts. In particular, the role of sex steroids on bone sexual dimorphism in health and disease has been analyzed.


2006 - Prevalence of secondary causes of osteoporosis among HIV infected individuals [Abstract in Rivista]
Guaraldi, Giovanni; Orlando, Gabriella; Squillace, Nicola; Rochira, Vincenzo; Madeo, Bruno; Zirilli, Lucia; Diazzi, Chiara; Caffagni, Giovanni; Baraldi, Enrica; Carani, Cesare; Esposito, Roberto; Pablo, Tebas
abstract

Although osteopenia/osteoporosis is very frequent among HIV infected individuals. Vitamin D deficiency is frequent in this Italian population and might be a contrib- utor to this problem.


2006 - Risultati preliminari del progetto di screening della patologia tiroidea ‘Ambulatorio Mobile’ su 6153 ecografie tiroidee eseguite in una popolazione di un’area geografica della Bielorussia contaminata dall’incidente di Chernobyl. [Abstract in Atti di Convegno]
Rochira, Vincenzo; Andrei, Alekseev; Natalia, Antanovich; Madeo, Bruno; Zirilli, Lucia; Borghi, Francesca; Sanguanini, Alessia; DE MOLA, Giovanni; Caffagni, Giovanni; Romano, Stefania; Antonio R. M., Granata; Massimo Tosti, Balducci; Carani, Cesare
abstract

Preliminary results of a study conducted on a population living in a rural area exposed to radiation after Chernobyl accident. Ultrasound screening of thyroid gland was performed in 6153 patients and showed no effect on thyroid volume.


2006 - Role of estrogens on bone in the human male [Articolo su rivista]
Zirilli, Lucia; Rochira, Vincenzo; Carani, Cesare
abstract

not available


2006 - Ruolo degli estrogeni sull’asse ipotalamo-ipofisi-gonadi in due uomini affetti da deficit di aromatasi: gli estrogeni sono indispensabili per l’integrità del feedback negativo a livello ipotalamico [Abstract in Atti di Convegno]
Rochira, Vincenzo; Antonio, Balestrieri; Madeo, Bruno; Zirilli, Lucia; Diazzi, Chiara; Paula, Antunez; Laura, Maffei; Carani, Cesare
abstract

Estrogen administration to aromatase deficient men discloses a feedback modulation both at pituitary and hypothalamic level demonstrating that estrogens but not testosterone are the main modulator of gonadotropins in men


2006 - Sildenafil improves sleep-related erections in hypogonadal men: evidence from a randomized, placebo-controlled, crossover study of a synergic role for both testosterone and sildenafil on penile erections [Articolo su rivista]
Rochira, Vincenzo; Balestrieri, Antonio; Madeo, Bruno; Antonio R. M., Granata; Carani, Cesare
abstract

To study the effects of sildenafil on human sleep-related erections according to the state of androgenization, we evaluated the effects of sildenafil on sleep-related erections in hypogonadal men before and during testosterone replacement treatment and in control subjects. We enrolled 24 hypogonadal men and 24 healthy men as a control group. All hypogonadal subjects had very low testosterone levels (< 200 ng/dL [8.93 nmol/L]). All subjects underwent nocturnal penile tumescence and rigidity monitoring (NPTRM) for 3 consecutive nights and were randomly assigned to consume either 50 mg of sildenafil or placebo 1 hour before bedtime on the second or third night of nocturnal penile monitoring. The hypogonadal subjects were tested twice, first without replacement treatment (H-T) and then after at least 6 months of testosterone replacement therapy (H+T). The subjects of the control group (C) were tested once. The following parameters of sleep-related erections were analyzed: total number of valid erections, total duration of both rigidity greater than or equal 70% and increase in penile circumference greater than or equal 30 mm, maximum rigidity, and maximum increase in penile circumference. NPTRM parameters were reduced in hypogonadal men before testosterone treatment (H-T+P) when compared with control subjects taking placebo (C+P). NPTRM parameters after testosterone (H+T+P) and sildenafil (H-T+S) administration were similar to that of control subjects taking placebo (C+P). When the statistical analysis was restricted to the hypogonadal men before testosterone treatment, sildenafil alone significantly increased NPTRM parameters when compared with placebo (H-T+S vs H-T+P). Testosterone restored normal erections when administered to hypogonadal subjects (H+T+P vs H-T+P); in hypogonadal men, however, the combined treatment (sildenafil plus testosterone) resulted in the maximum positive effect on NPTRM parameters. When the increase from baseline was analyzed, the effects of testosterone plus sildenafil were greater than the sum of the effects of each drug used alone. In conclusion, sildenafil administered at bedtime improves sleep-related erections in hypogonadal men, suggesting that the nitric oxide pathway may be pharmacologically enrolled and enhanced despite low serum testosterone. Furthermore, these data strongly support the idea of a synergic effect on sleep-related erections of sildenafil and testosterone.


2006 - Skeletal effects of estrogen and testosterone in a man with aromatase deficiency: priming effect of estrogen for sex steroids action on bone strength [Abstract in Rivista]
Zirilli, Lucia; Rochira, Vincenzo; Madeo, Bruno; Pignatti, Elisa; Luberto, Alessandra; Caffagni, Giovanni; Diazzi, Chiara; Sanguanini, Alessia; Emile, Roldan; Laura E., Maffei; Carani, Cesare
abstract

The combined treatment with estradiol and testosteron led to optimal parameters of BMD suggesting that testosterone needs estrogens as a permissive factor for a direct androgen anabolic action on bone in men


2006 - Skeletal effects of long-term estrogen and testosterone replacement treatment in a man with congenital aromatase deficiency: evidences of a priming effect of estrogen for sex steroids action on bone strenght [Abstract in Atti di Convegno]
Laura, Maffei; Zirilli, Lucia; Madeo, Bruno; Paula, Antunez; Caffagni, Giovanni; Claudio, Aranda; Bibiana, Fabre; Sanguanini, Alessia; Victor E., Montagero; Emilio J. A., Roldan; Carani, Cesare; Rochira, Vincenzo
abstract

The combined treatment with estradiol and testosteron led to optimal parameters of BMD suggesting that testosterone needs estrogens as a permissive factor for a direct androgen anabolic action on bone in men


2006 - Skeletal effects of long-term estrogen and testosterone replacement: treatment in a man with congenital aromatase deficiency: evidences of a priming effect of estrogen for sex steroids action on bone strength [Abstract in Atti di Convegno]
Carani, Cesare; Laura, Maffei; Zirilli, Lucia; Madeo, Bruno; Paula, Antunez; Caffagni, Giovanni; Claudio, Aranda; Bibiana, Fabre; Sanguanini, Alessia; Victor E., Montagero; Emilio J. A., Roldan; Rochira, Vincenzo
abstract

The combined treatment with estradiol and testosteron led to optimal parameters of BMD suggesting that testosterone needs estrogens as a permissive factor for a direct androgen anabolic action on bone in men


2006 - Synergic effect of sildenafil and testosterone on sleep-related erections in hypogonadal men in a randomized placebo-controlled, crossover study [Abstract in Rivista]
Rochira, Vincenzo; Antonio, Balestrieri; Madeo, Bruno; Zirilli, Lucia; Antonio R. M., Granata; Carani, Cesare
abstract

Randomized placebo-controlled, crossover study demonstrating a synergic effect of sildenafil and testosterone on sleep-related erections in hypogonadal men


2006 - Synergic effect of sildenafil and testosterone on sleep-related erections in hypogonadal men in a randomized, placebo-controlled, crossover study [Abstract in Rivista]
Antonio R. M., Granata; Antonio, Balestrieri; Madeo, Bruno; Valeria, Pugni; DE MOLA, Giovanni; Rochira, Vincenzo; Carani, Cesare
abstract

Randomized placebo-controlled, crossover study evaluating a synergic effect of sildenafil and testosterone on sleep-related erections in hypogonadal men


2005 - Bone effects of Raloxifene in a man with estradiol deficiency [Abstract in Atti di Convegno]
Laura E., Maffei; Paula, Antunez; Claudio, Aranda; Marcela, Vazquez; M., Stivel; Rochira, Vincenzo; Caffagni, Giovanni; Pascale, Chavassieux; Pierre J., Meunier; Carani, Cesare
abstract

This study shows that the management of aromatase deficiency in the male cannot consider raloxifene as a first choice treatment, but should be still based on estrogen replacement treatment


2005 - Bone effects of raloxifene in a man with estradiol deficiency [Abstract in Rivista]
Laura E., Maffei; Paula B., Antunez; Claudio, Aranda; Marcela, Vasquez; Mirta, Stivel; Rochira, Vincenzo; Giovanni, Caffagni; Pascale M., Chavassieux; Pierre, Meunier; Carani, Cesare
abstract

We present the first case of a 25-year-old man with low estradiol levels (studied for aromatase activity), who was treated with raloxifene 60 mg/day for one year. Previously, we described the favorable response to estradiol treatment of two men with aromatase deficiency, a genetic defect characterized in men by high stature, persistent linear growth, eunuchoid skeleton, unfused epiphyses, genu valgum and osteoporosis (Carani, N Engl J Med 1997; Maffei, J Clin Endocrinol Metab 2004). Clinical character- istics of the patient here presented were bone pain, tall height and persistent linear growth due to incomplete closure of growth cartilages (bone age 15.3 years), low BMD and eunuchoid proportions of the skeleton. We show the effects of raloxifene administration (60 mg/day) after 6 and 12 months of treatment [supplemented with calcium citrate 3000 mg/day (630 mg Ca+) + vitamin D 400 UI/day]. Ultrasound forearm bone mineral density (BMD) mostly improved after the first 6 months of treatment altogether with a progressive decrease of the markers of bone resorption and increase in those of formation, with no effect on bone age. In aromatase deficient men estrogen therapy results in the induction of bone maturation, closure of growth cartilages, normalization of serum markers of bone remodeling and an increase in BMD observed during. Conversely in this patient raloxifene led only to an improvement of bone remodeling markers and to an increase of BMD. Bone biopsy before treatment showed an increased trabecular remodeling with wide bone resorption and formation surfaces, and increased osteoblastic activity; after an year of treatment bone remodeling appeared greatly reduced with a normalization of all histomorphometric parameters. These data prove that in men mechanisms of estrogen action are different in relation to the tissue involved (cartilage or bone) and the biological effects (growth or mineralization), suggesting that pathways recruited for estrogen action may be heterogeneous with respect to the activation of different receptors or post-receptorial transductive way as well as the characteristics of the estrogen compound used for treatment.


2005 - Bone effects of raloxifene in a man with estradiol deficiency [Abstract in Rivista]
Rochira, Vincenzo; Laura E., Maffei; Paula, Antunez; Claudio, Aranda; Marcela, Vasquez; Mirta, Stivel; Caffagni, Giovanni; Carani, Cesare
abstract

This study shows that the management of aromatase deficiency in the male cannot consider raloxifene as a first choice treatment, but should be still based on estrogen replacement treatment


2005 - Bone effects of raloxifene in a man with estradiol deficiency [Abstract in Atti di Convegno]
Rochira, Vincenzo; Laura E., Maffei; Paula, Antunez; Claudia, Aranda; Marcela, Vasquez; Mirta, Stivel; Caffagni, Giovanni; Carani, Cesare
abstract

This study shows that the management of aromatase deficiency in the male cannot consider raloxifene as a first choice treatment, but should be still based on estrogen replacement treatment. In particular, raloxifene does not allow complete bone maturation.


2005 - Bone loss, sex steroids and male age related hypogonadism. [Articolo su rivista]
Rochira, Vincenzo; Balestrieri, Antonio; Madeo, Bruno; Zirilli, Lucia; Granata, Ar; Carani, Cesare
abstract

Male aged-related bone loss depends at least in part from hypogonadism that occurs with advancing aging. Recently the study of sex steroids on bone physiology in men highlighted the central role of estrogens on bone pathophysiology. This review focuses on the relative role of sex steroids on bone loss in aging men.


2005 - Clinical phenotype of male estrogen deficiency [Abstract in Atti di Convegno]
Carani, Cesare; Rochira, Vincenzo; Caffagni, Giovanni; Diazzi, Chiara; Laura, Maffei
abstract

Description of the clinical phenotype of men with congenital estrogen deficiency caused by complete defect of estrogen receptor alpha or aromatase deficiency


2005 - Endocrine correlates in a case of Allgrove Syndrome with diagnosis in adulthood [Abstract in Atti di Convegno]
Rochira, Vincenzo; Zirilli, Lucia; Andrea, Salmaggi; Chiara, Pantaleoni; Angela, Huebner; Madeo, Bruno
abstract

Late-onset triple A syndrome caused by a novel homozygous missense mutation in the AAAS gene (A167V in exon 6) was diagnosed at least 17 years after symptom onset


2005 - Erezioni correlate al sonno: fisiologia, tecniche di indagine e loro ruolo nella valutazione del paziente con deficit erettivo [Articolo su rivista]
DE MOLA, Giovanni; Sanguanini, Alessia; Rochira, Vincenzo; Zirilli, Lucia; Carani, Cesare; A. R. M., Granata
abstract

The cycle of rapid eye movement sleep is associated with penile erection. The study of sleep-related erections (SRE) contributes to the differential diagnosis for erectile dysfunction (ED), which can be due to an organic or a psychogenic cause. The pioneeristic de- vices for the study of SRE could only evaluate penile tumescence; nowadays also radial and axial penile rigidity can be evaluated. However only radial rigidity can be monitored continuously even if axial rigidity is more relevant in the study of ED. The study of SRE does not provide a neat differential diagnosis between organic and psychogenic ED, but this diagnostic tool has an important role if the data which can be obtained are interpreted within a wider study of the patient.


2005 - Estrogens in males: what have we learned in the last 10 years? [Articolo su rivista]
Rochira, Vincenzo; Antonio R. M., Granata; Madeo, Bruno; Zirilli, Lucia; Rossi, Giuseppina; Carani, Cesare
abstract

This review focuses on the role of estrogen in men, mainly in male reproduction. The continuing increase in data obtained, and recent discoveries in this area will enable a better understanding of male physiology; these, in turn, will have important clinical implications.


2005 - L'endocrinologia del desiderio [Articolo su rivista]
Zirilli, Lucia; Balestrieri, A; Madeo, Bruno; Rossi, Giuseppina; Granata, Arm; Carani, Cesare; Rochira, Vincenzo
abstract

Il comportamento sessuale nel maschio è principalmente sotto il controllo delle funzioni cognitive, ma alcuni ormoni, in particolare gli steroidi sessuali, sono in grado di modulare alcuni aspetti della sessualità maschile. Questa review pone l’attenzione sul ruolo sia degli estrogeni sia degli androgeni sul desiderio sessuale maschile, sulla base di studi sugli animali e sull’uomo. Gli estrogeni possono giocare un ruolo nella’attività sessuale dell’uomo in maniera simile a quanto avviene negli animali, ma nonostante siano probabilmente necessari livelli fisiologici di estrogeni per avere un comportamento sessuale maschile del tutto normale, il testosterone rimane il principale determinante del comportamento sessuale nell’uomo. Infine è schematizzato l’approccio clinico e terapeutico dei disturbi del desiderio sessuale.


2005 - Modificazioni scheletriche nella PADAM [Abstract in Atti di Convegno]
Rochira, Vincenzo; Madeo, Bruno; Antonio, Balestrieri; Zirilli, Lucia; Antonio R. M., Granata; Carani, Cesare
abstract

The main role of the decline of serum estrogen in determining osteoporosis in aging men is discussed


2005 - Pituitary function in two adult men with congenital aromatase deficiency: evidences of impaired pituitary reserve which is not restored by different doses of transdermal estradiol (TE2) treatment [Abstract in Atti di Convegno]
Rochira, Vincenzo; Antonio, Balestrieri; Madeo, Bruno; Antonio R. M., Granata; Zirilli, Lucia; Diazzi, Chiara; Claudio, Aranda; Paula, Antunez; Laura E., Maffei; Carani, Cesare
abstract

Estrogen modulate pituitary function, particularly GH and prolactin secretion in men, Aromatase deficiency constitutes a model to study the effect of the lack of estrogen on pituitary function.


2005 - Pituitary function in two adult men with congenital aromatase deficiency: evidences of impaired pituitary reserve which is not restored by different doses of transdermal estradiol (TE2) treatment [Abstract in Rivista]
Rochira, Vincenzo; Antonio, Balestrieri; Madeo, Bruno; Antonio R. M., Granata; Zirilli, Lucia; Diazzi, Chiara; Laura, Maffei; Carani, Cesare
abstract

Estrogen modulates pituitary function, particularly GH and prolactin secretion in men, Aromatase deficiency constitutes a model to study the effect of the lack of estrogen on pituitary function. Men with aromatase deficiency have GH deficiency despite their increased height.


2005 - Sex Steroids and sexual desire in a man with a novel mutation of aromatase gene and hypogonadism [Articolo su rivista]
Carani, Cesare; Antonio R. M., Granata; Rochira, Vincenzo; Caffagni, Giovanni; Claudio, Aranda; Paula, Antunez; Laura, Maffei
abstract

Sexual behavior was investigated by a sexological interview in a man with aromatase deficiency and hypogonadism. The study was performed at the end of a long testosterone treatment, during transdermal estradiol treatment and during estradiol and testosterone associated treatment. Sexual behavior did not show abnormalities. As assessed by a sexological interview and by a sexological questionnaire gender-identity was male, sexual orientation was heterosexual and libido was normal. Sexual function was limited to masturbation and was seemingly unaffected by testosterone or estradiol alone; only the associated treatment induced a great increase in libido and in frequency of masturbation and sexual fantasies when both testosterone and estradiol reached the range of normality. Sexual behavior is mainly under the control of cognitive functions in men, but sex steroids may modulate some aspects of male sexuality. Our findings suggest that in men estrogens could play a role in sexual activity.


2005 - Sex steroids and body proportions in two men with aromatase deficiency: evidences for a key role of estrogen deficiency on eunuchoid skeleton [Abstract in Atti di Convegno]
Rochira, Vincenzo; Madeo, Bruno; Zirilli, Lucia; Antonio, Balestrieri; Emile J. A., Roldan; Laura E., Maffei; Carani, Cesare
abstract

Aromatase deficiency, a human model of estrogen deficiency give evidences for a key role of estrogen deficiency on the development of eunuchoid skeleton


2005 - Sex steroids and body proportions in two men with aromatase deficiency: evidences for a key role of estrogen deficiency on eunuchoid skeleton [Abstract in Rivista]
Rochira, Vincenzo; Madeo, Bruno; Zirilli, Lucia; Carani, Cesare; Antonio, Balestrieri
abstract

Aromatase deficiency, a human model of estrogen deficiency provides evidences for a key role of estrogen deficiency on the development of the eunuchoid body proportions of the skeleton


2005 - Sex steroids and sexual desire in a man with a novel mutation of aromatase gene and hypogonadism [Abstract in Atti di Convegno]
Laura E., Maffei; Antonio R. M., Granata; Diazzi, Chiara; Zirilli, Lucia; Claudio, Aranda; Paula B., Antunez; Madeo, Bruno; Rochira, Vincenzo; Carani, Cesare
abstract

Sexual behavior was investigated by a sexological interview in a man with aromatase deficiency and hypogonadism, suggesting that in men estrogens could play a role in sexual activity while are not necessary for the development of sexual identity and orientation.


2005 - Sex steroids, glucose metabolism and insulin resistance in two adult men with congenital aromatase deficiency: evidences for a positive role of estrogens and for a key role of E2 to T ratio [Abstract in Atti di Convegno]
Rochira, Vincenzo; Madeo, Bruno; Zirilli, Lucia; Antonio, Balestrieri; Antonio R. M., Granata; Caffagni, Giovanni; Paula, Antunez; Claudio, Aranda; Laura E., Maffei; Carani, Cesare
abstract

The study suggests a direct involvement of oestrogens in insulin sensitivity, and supports a possible role of oestradiol to testosterone ratio, which may be as important as the separate actions of each sex steroid on glucose homeostasis


2005 - Sex steroids, glucose metabolism and insulin resistance in two adult men with congenital aromatase deficiency: evidences for a positive role of estrogens and for a key role of E2 to T ratio [Abstract in Rivista]
Rochira, Vincenzo; Madeo, Bruno; Zirilli, Lucia; Antonio, Balestrieri; Antonio R. M., Granata; Caffagni, Giovanni; Laura, Maffei; Carani, Cesare
abstract

The study suggests a direct involvement of oestrogens in insulin sensitivity, and supports a possible role of oestradiol to testosterone ratio, which may be as influencial as the separate actions of each sex steroid on glucose homeostasis


2005 - Testosterone and sildenafil in hypogonadal men: evidence for a synergical effect [Abstract in Rivista]
Rochira, Vincenzo; Madeo, Bruno; Zirilli, Lucia; Diazzi, Chiara; Antonio R. M., Granata; Antonio, Balestrieri; Carani, Cesare
abstract

Randomized placebo-controlled, crossover study demonstrating a synergic effect of sildenafil and testosterone on sleep-related erections in hypogonadal men


2005 - Testosterone and sildenafil in hypogonadal men: evidence for a synergical effect [Abstract in Atti di Convegno]
Rochira, Vincenzo; Madeo, Bruno; Zirilli, Lucia; Diazzi, Chiara; Antonio R. M., Granata; Antonio, Balestrieri; Carani, Cesare
abstract

Randomized placebo-controlled, crossover study demonstrating a synergic effect of sildenafil and testosterone on sleep-related erections in hypogonadal men


2005 - Testosterone and sildenafil in hypogonadal men: evidence for a synergistic effect [Abstract in Atti di Convegno]
Rochira, Vincenzo; Madeo, Bruno; Zirilli, Lucia; Diazzi, Chiara; Antonio R. M., Granata; Antonio, Balestrieri; Carani, Cesare
abstract

Randomized placebo-controlled, crossover study evaluating a synergic effect of sildenafil and testosterone on sleep-related erections in hypogonadal men


2004 - About estrogens effects on men: bone morphology, mineral density and resistance index in two estrogen-deficient male adults [Abstract in Rivista]
Laura, Maffei; Paula, Antunez; Gloria, Tubert; Rochira, Vincenzo; Pascale, Chavassieux; Yoko, Murata; Victor, Montangero; Evan, Simpson; Pierre, Meunier; Carani, Cesare; Emile JA, Roldan
abstract

The effects of estrogens on bone tissue in males have not been well established. We had the opportunity to observe several bone parameters in two estrogen deficient men (both were 28 years old). They presented a typical phenotype of a congenital aromatase deficiency. The first patient presented an homozigous mutation of the exon V of the CYP 19 gene from ACG to ACA affecting the splicing of the RNA and associated with an androgen deficiency and a crypthorquidism. He had dolic biotype features in head, mainly due to basal jaw development. Mid-shaft cortical area (Act), cross sectionals moments of inertia (CSMI), volumetric bone mineral density (vBMD) and stress-strain indexes (SSI) of bone resistance to deformations were estimated at different sites (tibia, radio, jaw) by tridimensional tomography (XCT 3000- Stratec, Pforzheim). Structural deformations were clearly ob- served at mid-shafts Act; over-normal vBMD values were clearly observed at jaws (from 1255-1355 mg/cm3); threshold analysis showed an irregular distribution of the area with a high bone density (over 700 mg); SSIpolarand SSIx.axis indexes were appar- ently normal but CSMIs were variable. The second patient had a mutation in the exon IV from ATG to AGG, methionine to arginine. But it is an heterozygous mutation of the CYP19 gen. He presented a phenotype of estrogen and aromatase deficiencies. Cephalometrywas over normal value for the race and sex (+3 SD). Specifically, perialveolar, not basals, are preserved. Histomorphometric analysis of transiliac bone biopsy performed after double tetracycline labelling showed a high bone turnover with an active osteoblastic synthesis. The eroded surfaces were 2.7 fold higher than controls, osteoid surfaces and volume were increased by x2.6 and x2.8 respectively. The mineralising surfaces were extended at 21.7 %. There was no mineralization defect. These findings may be explained from different viewpoints, including: 1- Mechanically, bone alterations may correspond to a non-directional modelling and remodelling since born, and cortical changes may be an adaptive mechanism 2- Metabolically, long-term non-hormonal controlled bone turnover may disturb directional modelling and remodelling resulting in deformations. Despite mechanisms, bone quality in these two males without estrogens synthesis is abnormal, although resistance is still acceptable.


2004 - Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment [Articolo su rivista]
Laura, Maffei; Yoko, Murata; Rochira, Vincenzo; Gloria, Tubert; Claudio, Aranda; Marcela, Vazquez; Colin D., Clyne; Susan, Davis; Evan R., Simpson; Carani, Cesare
abstract

We present the fourth case of an adult man (29 yr old) affected by aromatase deficiency resulting from a novel homozygous inactivating mutation of the CYP19 ( P450(arom)) gene. At first observation, continuing linear growth, eunuchoid body proportions, diffuse bone pain, and bilateral cryptorchidism were observed. The patient presented also a complex dysmetabolic syndrome characterized by insulin resistance, diabetes mellitus type 2, acanthosis nigricans, liver steatohepatitis, and signs of precocious atherogenesis. The analysis of the effects induced by the successive treatment with high doses of testosterone, alendronate, and estradiol allows further insight into the roles of androgens and estrogens on several metabolic functions. High doses of testosterone treatment resulted in a severe imbalance in the estradiol to testosterone ratio together with the occurrence of insulin resistance and diabetes mellitus type 2. Estrogen treatment resulted in an improvement of acanthosis nigricans, insulin resistance, and liver steatohepatitis, coupled with a better glycemic control and the disappearance of two carotid plaques. Furthermore, the study confirms previous data concerning the key role of estrogens on male bone maturation, at least in part, and regulation of gonadotropin secretion. The biopsy of the testis showed a pattern of total germ cell depletion that might be due to the concomitant presence of bilateral cryptorchidism. Thus, a possible role of estrogen in male reproductive function is suggested but without revealing a direct cause-effect relationship. Data from this case provide new insights into the role of estrogens in glucose, lipid, and liver metabolism in men. This new case of aromatase deficiency confirms previous data on bone maturation and mineralization, and it reveals a high risk for the precocious development of cardiovascular disease in young aromatase-deficient men.


2004 - Is the lack of estrogen responsible for aging in the male? [Abstract in Rivista]
Rochira, Vincenzo; Madeo, Bruno; Antonio, Balestrieri; Antonio R. M., Granata; Carani, Cesare
abstract

The study of the effects of sex steroids on bone physiology in aging men with particular concern to the central role of estrogens on bone pathophysiology in men with late-onset hypogonadism.


2004 - Role of estrogens on human male reproductive system [Articolo su rivista]
Rochira, Vincenzo; Zirilli, Lucia; Madeo, Bruno; Antonio, Balestrieri; Carani, Cesare; A. R. M., Granata
abstract

Abstract: This review focuses on estrogen role on human male physiology. Biological estrogen actions on male reproductive system are summarized with particular regard to the effects of congenital estrogen deprivation in men. The effects of estrogen on spermatogenesis, hormonal secretion and gonadotropin feedback and on sexual behavior are discussed. It is remarked that the role of estrogens in male reproduction is a very recent acquisition in reproductive endocrinology, but it promises new future fields of research to be investigated as well as the possible disclosure of new strategies in clinical practice.


2004 - Ruolo degli estrogeni nell’uomo e degli androgeni nella donna [Relazione in Atti di Convegno]
Diazzi, Chiara; Caffagni, Giovanni; Zirilli, Lucia; Rochira, Vincenzo; Carani, Cesare
abstract

Both estrogen and androgens are crucial in males and females respectively for bone mineralization and maintenance of bone mass


2003 - A new case of juxtaglomerular cell tumor in a patient with bilateral adrenalectomy because of MEN2A [Abstract in Atti di Convegno]
Madeo, Bruno; Antonio, Balestrieri; Antonio R. M., Granata; Maiorana, Antonino; Carani, Cesare; Rochira, Vincenzo
abstract

Case report: juxtaglomerular cell tumor in a patient with bilateral adrenalectomy because of MEN2A


2003 - A new case of juxtaglomerular cell tumor in a patient with bilateral adrenalectomy because of MEN2A [Abstract in Atti di Convegno]
Madeo, Bruno; Antonio, Balestrieri; Antonio R. M., Granata; Maiorana, Antonino; Curatola, Carlo; Zirilli, Lucia; Carani, Cesare; Rochira, Vincenzo
abstract

Case report: juxtaglomerular cell tumor in a patient with bilateral adrenalectomy because of MEN2A


2003 - A new case of juxtaglomerular cell tumor in a patient with bilateral adrenalectomy because of MEN2A [Abstract in Rivista]
Madeo, Bruno; Rochira, Vincenzo; Antonio, Balestrieri; Antonio R. M., Granata; Maiorana, Antonino; Zirilli, Lucia; Carani, Cesare
abstract

Case report: juxtaglomerular cell tumor in a patient with bilateral adrenalectomy because of MEN2A


2003 - Aromatase is differentially expressed in peripheral blood leukocytes from children, and adult female and male subjects [Abstract in Rivista]
Rochira, Vincenzo; Carani, Cesare; Alessandra, Vottero; Marzia, Cappelletti; Valassi, Elena; Tauro M., Neri; Sergio, Bernasconi; Lucia, Ghizzoni
abstract

The aromatase gene is differentially expressed in PBLs from women, men, and prepubertal children, indicating a sexual dimorphism in the enzyme expression and an important role of sex steroids in the modulation of aromatase gene expression


2003 - Bilateral osteonecrosis of the femoral head in an adult man affected by congenital estrogen deficiency [Articolo su rivista]
Balestrieri, Antonio; Madeo, Bruno; Rochira, Vincenzo; Baldini, Luca; Carani, Cesare
abstract

Osteonecrosis of femoral head is related to different predisposing factors. The pathogenesis is not completely understood, but an ischemic impairment seems to be one of the major determinants of bone necrosis. The association of bilateral necrosis of femoral heads and congenital aromatase deficiency is here reported. The absence of estrogen activity, as well as the persistence of unfused epiphyses for a long period of life, may be involved in the determinism of bilateral necrosis of bone femoral heads. The possibility of development of bone necrosis in patients affected by congenital estrogen deficiency needs to be considered and magnetic resonance imaging can be a useful method for an early detection of this disease.


2003 - Dysmetabolic Syndrome in a new case of male aromatase deficiency (AD): effects of testosterone (TT) and estradiol treatment (ET) [Abstract in Rivista]
Rochira, Vincenzo; Laura, Maffei; Yoko, Murata; Gloria, Tubert; Evan R., Simpson; Carani, Cesare
abstract

We present the fourth case of an adult man with aromatase deficiency resulting from a novel homozygous inactivating mutation of the CYP19 gene. This new case confirms previous data on bone maturation and mineralization, and it reveals a high risk for the precocious development of atherosclerosis, insulin resistance and increased risk of cardiovascular disease in young aromatase-deficient men


2003 - Effetto del sildenafil e del testosterone sulle erezioni correlate al sonno in pazienti affetti da ipogonadismo [Abstract in Atti di Convegno]
Antonio R. M., Granata; Madeo, Bruno; Antonio, Balestrieri; Rochira, Vincenzo; Carani, Cesare
abstract

Randomized placebo-controlled, crossover study evaluating a synergic effect of sildenafil and testosterone on sleep-related erections in hypogonadal men


2003 - Estrogeni e riproduzione maschile [Abstract in Atti di Convegno]
Madeo, Bruno; Rochira, Vincenzo; Antonio R. M., Granata; Carani, Cesare; Antonio, Balestrieri
abstract

Description of the role of estrogens in the control of gonadotropin secretion, in male fertility determination


2003 - Estrogeni e riproduzione maschile. [Relazione in Atti di Convegno]
Rochira, Vincenzo; Fabbi, Matteo; Valassi, Elena; Madeo, Bruno; Carani, Cesare
abstract

The effects of estrogen excess and estrogen deprivation on male reproductive function is reviewed and summarized.


2003 - Estrogens and male sexual behavior: insights from the natural model of congenital estrogen deficiency [Abstract in Rivista]
Rochira, Vincenzo; Madeo, Bruno; Antonio, Balestrieri; Valassi, Elena; Zirilli, Lucia; Antonio R. M., Granata
abstract

Sexual behavior was investigated by a sexological interview in a man with aromatase deficiency and hypogonadism, suggesting that in men estrogens could play a role in sexual activity, but are not responsible for the development of a male gender identity and male sexual orientation.


2003 - Oestrogènes et reproduction masculine [Estrogens and male reproduction] [Articolo su rivista]
Rochira, Vincenzo; Matteo, Fabbi; Madeo, Bruno; Carani, Cesare; Valassi, Elena
abstract

Abstract The role of estrogen on male reproductive function has become clearer in the last decade. During these years the study of the effect of testosterone, estrogen or an aromatase inhibitor in hypogonadal men provided a first evidence of the effects of estrogens in the regulation of gonadotropin secretion. At the same time, the development of a line of transgenic male mice lacking estrogen receptor α, estrogen receptor β or aromatase gene provided further evidence about the role of estrogens not only in the regulation of gonadotropin secretion, but also on the effects of estrogens on testicular function and development. A confirmation of these actions of estrogens came from the observation of naturally occurring mutations of the estrogen receptor and of the aromatase gene in human males. Based on these data it has been demonstrated that estrogens are major regulators of gonadotropin secretion acting both at pituitary and hypotalamic level. The presence in the human reproductive structures of estrogen receptor α, estrogen receptor β and the aromatase enzyme indicates the existence of receptor α, estrogen receptor β or aromatase estrogen actions at this level. Anyway, the precise role of estrogens in testicular development and function and on the regulation of human spermatogenesis has not yet been precisely clarified.


2003 - Ruolo degli estrogeni sulla funzionalità ipofisaria e sulla maturazione scheletrica nell'uomo [Abstract in Atti di Convegno]
Rochira, Vincenzo; Antonio, Balestrieri; Madeo, Bruno; Antonio R. M., Granata; Carani, Cesare
abstract

Aromatase deficiency, a human model of estrogen deficiency give evidences for a key role of estrogen on the development of skeleton adn pituitary function


2003 - Sex steroids and sexual desire mechanism. [Articolo su rivista]
Rochira, Vincenzo; Zirilli, Lucia; Madeo, Bruno; Balestrieri, Antonio; Antonio R. M., Granata; Carani, Cesare
abstract

Sexual behavior is mainly controlled by cognitive functions in men, though hormones, particularly sex steroids, may modulate some aspects of male sexuality. This review focuses on the role of both estrogens and androgens on male sexual desire, starting from both animal and human studies. Estrogens could play a role in human male sexual activity, similarly to what happens in animals, but even though physiological levels of estrogens could be probably required for a completely normal male sexual behavior, testosterone remains the major determinant of human male sexual behavior.


2003 - Sildenafil is effective in improving sleep-related erection in healthy men: evidences for a more prolonged action. Therapeutical implications. A randomised, placebo-controlled, crossover study [Abstract in Rivista]
Madeo, Bruno; Rochira, Vincenzo; Antonio, Balestrieri; Fabbi, Matteo; Carani, Cesare; Antonio R. M., Granata
abstract

This randomized, placebo-controlled, crossover study demostrate that sildenafil is effective in improving sleep-related erection in healthy men


2003 - Sleep related erections in hypogonadal men: effect of both sildenafil and testosterone replacement therapy. A randomized controlled study [Abstract in Atti di Convegno]
Madeo, Bruno; Antonio, Balestrieri; Rochira, Vincenzo; Carani, Cesare; Antonio R. M., Granata
abstract

Peliminary results from a randomized placebo-controlled, crossover study demonstrating a synergic effect of sildenafil and testosterone on sleep-related erections in hypogonadal men


2003 - Sleep related erections in hypogonadal men: effect of both sildenafil and testosterone replacement therapy. Preliminary data of a randomized controlled study [Abstract in Rivista]
Antonio R. M., Granata; Madeo, Bruno; Antonio, Balestrieri; Fabbi, Matteo; Carani, Cesare; Rochira, Vincenzo
abstract

Preliminary data on a randomized placebo-controlled, crossover study evaluating a synergic effect of sildenafil and testosterone on sleep-related erections in hypogonadal men


2003 - The apparent paradox of tall stature with hypopituitarism: new insights from an old story [Articolo su rivista]
Marco Faustini, Fustini; Balestrieri, Antonio; Rochira, Vincenzo; Carani, Cesare
abstract

not available


2003 - The effect of sildenafil on sleep related erections in hypogonadal men with and without testosterone replacement therapy. Preliminary data of randomized controlled study [Abstract in Atti di Convegno]
Madeo, Bruno; Antonio, Balestrieri; Rochira, Vincenzo; Valassi, Elena; Fabbi, Matteo; Carani, Cesare; Antonio R. M., Granata
abstract

Preliminary data of a randomized placebo-controlled, crossover study evaluating a synergic effect of sildenafil and testosterone on sleep-related erections in hypogonadal men


2002 - Aromatase deficiency in the male: intriguing effects of testosterone, alendronate and estradiol treatment [Abstract in Atti di Convegno]
Laura, Maffei; Rochira, Vincenzo; Fabbi, Matteo; Gloria, Tubert; Carani, Cesare
abstract

Description of the fourth case of an adult man with aromatase deficiency, in particulare the effect of different treatment strategies on bone metabolism.


2002 - Congenital estrogen deficiency in men: a new syndrome with different phenotypes; clinical and therapeutic implications in men [Articolo su rivista]
Rochira, Vincenzo; Balestrieri, Antonio; Madeo, Bruno; Spaggiari, Antonio; Carani, Cesare
abstract

The report focuses on the role of estrogens in human male, dealing with two human models of congenital estrogen deficiency: estrogen resistance and aromatase deficiency. Similarities and differences of clinical phenotypes of these models are described and progresses of estrogen treatment of aromatase-deficient men are reported. Finally, the putative use of estrogen in men and the use of aromatase inhibitors and antiestrogen for male disorders are discussed.


2002 - Effects of Sildenafil on Sleep-Related Erection in Healthy Men [Abstract in Rivista]
Madeo, Bruno; Fabbi, Matteo; Rochira, Vincenzo; Antonio R. M., Granata; Valassi, Elena; Antonio, Balestrieri; Carani, Cesare
abstract

This randomized, placebo-controlled, crossover study demostrate that sildenafil is effective in improving and ameliorate sleep-related erection, that are just normal, in healthy men


2002 - Effects of Sildenafil on sleep-related erections in normal men: randomized, placebo-controlled, crossover study [Abstract in Atti di Convegno]
Madeo, Bruno; Antonio R. M., Granata; Fabbi, Matteo; Rochira, Vincenzo; Antonio, Balestrieri; Carani, Cesare
abstract

This randomized, placebo-controlled, crossover study demostrate that sildenafil is effective in improving sleep-related erection in healthy men


2002 - Effects of sildenafil on nocturnal penile tumescence and rigidity in normal men: Randomized, placebo-controlled, crossover study [Articolo su rivista]
Rochira, Vincenzo; Antonio R. M., Granata; Balestrieri, Antonio; Madeo, Bruno; Carani, Cesare
abstract

We studied the effects of sildenafil on sleep-related erections in 44 adult healthy men not affected by erectile dysfunction (mean age +/- SD: 39.3 +/- 10.5 years). No subjects were administered any medication the first night, but all were randomly administered sildenafil 50 mg or placebo the second night and vice versa the third night. Sildenafil and placebo were administered 1 hour before bedtime. The following parameters of sleep-related erections, after taking sildenafil or placebo, were analyzed: total number of valid erections, total duration of rigidity more than or equal to 70% of a tightening force of 2.8 N applied by the recording device, total duration of increase in penile circumference more than or equal to 30 mm, maximum rigidity, mean of maximum rigidity, and maximum increase of tumescence. Apart from the maximum increase of tumescence, all the parameters analyzed were significantly higher after sildenafil than after placebo administration during the first 4 hours of monitoring in all subjects (n = 44) (study 1). All the parameters were significantly higher after sildenafil than after placebo administration during the whole 8 hours of monitoring in 25 of 44 subjects (study 2A) who slept at least 8 hours. Comparing both the first and the second 4 hours in the 25 of 44 subjects who slept at least 8 hours (study 2B), all the parameters were significantly higher after sildenafil than after placebo administration, apart from maximum rigidity and mean of maximum rigidity during the first 4 hours. Our data suggest that sildenafil, administered at bedtime, is efficacious in improving sleep-related erections in normal men, indirectly confirming that the nitric oxide pathway is crucial in the physiology of erections during sleep. The effect of sildenafil is prolonged up to 89 hours after its administration.


2002 - Effects of sildenafil on nocturnal penile tumescence and rigidity in normal men: randomized, placebo-controlled, crossover study - Comment [Articolo su rivista]
Rochira, Vincenzo; Antonio R. M., Granata; Balestrieri, Antonio; Madeo, Bruno; Carani, Cesare
abstract

not available


2002 - GH, PRL, TSH, and ACTH evaluation in a man with aromatase deficiency: effect of different doses of transdermal estradiol [Abstract in Atti di Convegno]
Rochira, Vincenzo; Antonio, Balestrieri; Madeo, Bruno; Antonio R. M., Granata; Stefano, Borgato; Paolo Beck, Peccoz; Carani, Cesare
abstract

To clarify the role of estrogen on male pituitary function, the effects of different doses of transdermal E2 on pituitary secretion were evaluated in a man with aromatase deficiency.


2002 - Gender Difference in Lymphocyte Aromatase Gene Expression [Abstract in Atti di Convegno]
Alessandra, Vottero; Carani, Cesare; Marzia, Capelletti; Rochira, Vincenzo; Valassi, Elena; Tauro M., Neri; S., Bernasconi; Lucia, Ghizzoni
abstract

The aromatase gene is differentially expressed in PBLs from women, men, and prepubertal children, indicating a sexual dimorphism in the enzyme expression and an important role of sex steroids in the modulation of aromatase gene expression


2002 - Maturazione ossea e steroidi sessuali. [Relazione in Atti di Convegno]
Antonio, Balestrieri; Valassi, Elena; Madeo, Bruno; Rochira, Vincenzo; Carani, Cesare
abstract

Not available


2002 - Pathophysiological significance of estrogens in men [Abstract in Rivista]
Carani, Cesare; Laura, Maffei; Gloria, Tubert; Antonio, Balestrieri; Madeo, Bruno; Rochira, Vincenzo
abstract

Aromatase deficient men represent a human model of estrogen deficiency and play an important role in understanding the pathophysiological significance of estrogens in men


2002 - Pituitary function in a man with congenital aromatase deficiency: effect of different doses of transdermal estradiol on basal and stimulated pituitary hormones [Articolo su rivista]
Rochira, Vincenzo; Balestrieri, Antonio; Marco Faustini, Fustini; Stefano, Borgato; Paolo Beck, Peccoz; Carani, Cesare
abstract

To clarify the role of estrogen on male pituitary function, the effects of different doses of transdermal E2 on pituitary secretion were evaluated in a man with aromatase deficiency. The study protocol was divided into the following three phases: no E2 treatment (phase 1); 25 mug transdermal E2 twice weekly for 9 months (phase 2);12.5 mug transdermal E2 twice weekly for 9 months (phase 3). Pituitary function was studied in detail during each phase of the study protocol by measuring hormone levels in basal conditions and after dynamic testing (GnRH, insulin tolerance test, GHRH plus arginine, TRH, and corticotropin-releasing factor; tests). Basal and GnRH-stimulated gonadotropin levels resulted inversely related to E2 serum levels, according to the dosage of estrogen administered. Basal and stimulated GH, PRL, and TSH serum levels did not change during the protocol study. The secretory pituitary reserve of GH was clearly impaired. Basal and stimulated ACTH and cortisol serum levels were not modified by estrogen administration. This study demonstrated that in the human male E2 is required at pituitary level for normal functioning of gonadotropin feedback both in basal and stimulated conditions. In this patient GH deficiency seems to be an adult-onset event since he reached a tall stature. However, the finding of a severe impairment in GH response to potent provocative stimuli together with the insensitivity of GH/IGF-I axis to circulating estrogens strongly suggest a possible involvement of estrogens on both the development and maturation of the somatotrophic axis. Finally, the congenital lack of estrogen activity seems to be associated with a slightly impaired secretion of PRL and TSH, suggesting a possible role of estrogens on the pituitary secretion of these hormones in the human male.


2002 - Sex hormones in aging male and female [Abstract in Rivista]
Madeo, Bruno; Rochira, Vincenzo; Valassi, Elena; Zirilli, Lucia; Sgarbi, Ilaria; Balestrieri, Antonio
abstract

Differences in declining sex steroid function between aging male and female


2002 - Sexuality and erectile dysfunction [Capitolo/Saggio]
Carani, Cesare; Rochira, Vincenzo; A. R. M., Granata
abstract

The chapter deals with the physiology and pathophysiology of sexual function in men. Study of erectile dysfunction and its treatment, and relationship with hormonal status


2002 - Short-term suppression of GH and IGF-I levels improves gonadal function and sperm parameters in men with acromegaly [Articolo su rivista]
Anna Maria, Colao; Michele De, Rosa; Rosario, Pivonello; Balestrieri, Antonio; Paolo, Cappabianca; Antonella Di, Sarno; Rochira, Vincenzo; Carani, Cesare; Gaetano, Lombardi
abstract

Experimental data support a role for GH and IGF-I in the reproductive process in humans, but the effect of chronic GH excess on gonadal and reproductive function in men has been never investigated. To understand the effects of short-term GH and IGF-I suppression on the gonadal axis and seminal fluid characteristics in men with acromegaly, we evaluated 35 patients (age 27-59 yr) with active disease and 35 age-matched healthy controls. Gonadal hormones and seminal fluid analysis were evaluated before and 6 months after surgery or lanreotide (LAN) (60 mg/month). At study entry, FSH, testosterone (T), and dihydrotestosterone (DHT) (P < 0.0001) levels, seminal volume, sperm count, total motility and forward progression, normal morphology, and vitality were significantly lower in patients with acromegaly than in controls. After 6 months, 22 patients achieved disease control after surgery (n = 11) or LAN (n = 11), whereas 13 had uncontrolled disease. Serum T and DHT levels and sperm number significantly increased in all groups. FSH and LH levels and total motility increased only in patients achieving disease control. Posttreatment IGF-I levels significantly correlated with total motility (r = -0.45; P = 0.006). In conclusion, short-term GH and IGF-I suppression after surgery or LAN significantly increased T and DHT levels and improved sperm number and motility in acromegalic men.


2002 - Studio longitudinale della funzionalità tiroidea in bambini affetti da Sindrome di Down [Abstract in Atti di Convegno]
Borghi, Francesca; Rochira, Vincenzo; Ornella, Biagioni; Montanini, Vanna
abstract

Longitudinal study evaluating the thyroid function in patients with Down Syndrome. Subclinical Hypothyroidism is often present in children with Down Syndrome and it is not always associated with documented positivity of thyroid autoimmunity.


2002 - Terapia sostitutiva e maturazione ossea [Abstract in Atti di Convegno]
Carani, Cesare; Zirilli, Lucia; Antonio, Balestrieri; Fabbi, Matteo; Rochira, Vincenzo
abstract

This abstract summarize the role of sex steroids (in particular estrogens) played for the achievement of peak bone mass both in men and women.


2001 - Alendronate and long-term testosterone treatment and BMD in an aromatase-deficient man [Abstract in Rivista]
Laura, Maffei; Rochira, Vincenzo; Gloria, Tubert; Claudio, Aranda; Marcela, Vazquez; Colin D., Clyne; Yoko, Murata; Evan R., Simpson; Carani, Cesare
abstract

Presentation of a case of an adult man with aromatase deficiency treated with alendronate and testosterone without success, thus confirming previous data on bone maturation and mineralization concerning the need of estrogen for a complete bone maturation and mineralization.


2001 - Aromatase inhibitors in pubertal boys: Clinical implications [Articolo su rivista]
Rochira, Vincenzo
abstract

not available


2001 - Clinical implications and management of oestrogen deficiency in the male [Articolo su rivista]
Balestrieri, Antonio; Marco Faustini, Fustini; Rochira, Vincenzo; Carani, Cesare
abstract

not available


2001 - Congenital estrogen deficiency: in search of the estrogen role in human male reproduction [Articolo su rivista]
Rochira, Vincenzo; Balestrieri, Antonio; Madeo, Bruno; Baraldi, Enrica; Marco Faustini, Fustini; Antonio R. M., Granata; Carani, Cesare
abstract

Recently, a remarkable progress has been made in our understanding about the role of sex steroids in male physiology. In this paper, we consider the clinical aspects of congenital estrogen deficiency - notably, estrogen resistance and aromatase deficiency - in men and we discuss both well-established and supposed estrogen roles in the human male reproductive function. These topics include the role of estrogens in the control of gonadotropin secretion, in male fertility determination and psychosexual behavior. Briefly, estrogens play a pivotal role in the control of serum gonadotropin concentrations in the human male. Furthermore, a possible role of estrogens on both human male fertility and sexuality has also been suggested by recent studies, even though the available data are far from being conclusive. Conversely, for what concern Fertility and sexual behavior, a well-established effect of estrogens has been provided by recent studies on male rodents, which show impaired sexual behavior and fertility as a consequence of estrogen defect. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.


2001 - Effects of different doses of transdermal estradiol on gonadotopin feedback in a man with congenital aromatase deficiency [Abstract in Atti di Convegno]
Rochira, Vincenzo; Antonio, Balestrieri; Madeo, Bruno; Marco Faustini, Fustini; Paolo Beck, Peccoz; Carani, Cesare
abstract

In order to clarify the role of estrogen on male pituitary gonadotropin feedback, the effects of different doses of transdermal E2 on pituitary secretion were evaluated in a man with congenital aromatase deficiency. Estrogen, but not testosterone was able to reduce gonadotropins serum levels.


2001 - Effects of sildenafil on sleep-related erections in normal men [Abstract in Atti di Convegno]
Antonio R. M., Granata; Madeo, Bruno; Antonio, Balestrieri; Rochira, Vincenzo; Carani, Cesare
abstract

This randomized, placebo-controlled, crossover study demonstrates that sildenafil is effective in improving sleep-related erection in healthy men


2001 - Effects of sildenafil on sleep-related erections in normal men [Abstract in Rivista]
Antonio R. M., Granata; Madeo, Bruno; Antonio, Balestrieri; Rochira, Vincenzo; Carani, Cesare
abstract

This randomized, placebo-controlled, crossover study demonstrates that sildenafil is effective in improving sleep-related erection in healthy men


2001 - Effects of testosterone treatment on bone in two aromatase-deficient men [Abstract in Atti di Convegno]
Laura, Maffei; Rochira, Vincenzo; Gloria, Tubert; Yoko, Murata; Evan, Simpson; Carani, Cesare
abstract

The study of the effects of testosterone treatment on bone mineral density and bone maturatione in two aromatase-deficient men showed that testosterone is not effective in improving bone mineralization and maturation and it needs to be converted into estrogens.


2001 - Effetti del Sildenafil sull'erezione notturna nel soggetto sano: aspetti fisiologici. [Relazione in Atti di Convegno]
Madeo, Bruno; Antonio R. M., Granata; Rochira, Vincenzo; Antonio, Balestrieri; Carani, Cesare
abstract

Not available


2001 - Human models of estrogen deficiency [Abstract in Atti di Convegno]
Rochira, Vincenzo; Antonio, Balestrieri; Madeo, Bruno; Valassi, Elena; Antonio R. M., Granata; Carani, Cesare
abstract

Description of human models of estrogen deficiency plays a key role in understanding the effect of estogens in men


2001 - Ormoni gonadici e sessualità. (Capitolo 12) [Capitolo/Saggio]
Madeo, Bruno; Rochira, Vincenzo; Attilia, Pizzini; Fabbi, Matteo; Caterina, Cappi; Antonio, Balestrieri; Carani, Cesare
abstract

Il ruolo degli ormoni sulla funzione gonadica e sulla sessualità viene illustrato in maniera esaustiva/This chapter deals with the role of hormones on human male sexuality.


2001 - Role of estrogen on bone in the human male: insights from the natural models of congenital estrogen deficiency [Articolo su rivista]
Rochira, Vincenzo; Balestrieri, Antonio; Marco Faustini, Fustini; Carani, Cesare
abstract

The reports of congenital estrogen deficiency - notably, estrogen resistance and aromatase deficiency - have completely changed our knowledge on the role of estrogen on bone in males. Particularly, the bone changes at puberty, which were classically considered androgen-dependent, are now considered to be induced at least in part by estrogen action. Clinical cases of congenital estrogen deficiency have clearly demonstrated that the role of estrogens in epiphyseal closure, skeletal proportions and bone mineralization is crucial not only in women but also in men. In addition progress have been made in the treatment of such a rare disease even though further studies are needed to a definitive understanding of this issue. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.


2001 - Sex Steroids in ageing male [Abstract in Atti di Convegno]
Madeo, Bruno; Rochira, Vincenzo; Fabbi, Matteo; Zirilli, Lucia; Carani, Cesare
abstract

Estrogens and testosterone declines with aging and serum estradiol remains higher in older men than in women


2001 - Sex steroids in ageing male and female [Abstract in Rivista]
Madeo, Bruno; Zirilli, Lucia; Rochira, Vincenzo; Antonio, Balestrieri; Fabbi, Matteo; Gabriella, Pini; Paola, Guaresi; Leonarda, Troiano; Carani, Cesare
abstract

This study demonstrates the sex differences in sex steroid function between aging male and female


2000 - Case Report: Congenital Adrenal Hyperplasia in a man with Klinefelter Syndrome [Abstract in Rivista]
Rochira, Vincenzo; Antonio, Balestrieri; Madeo, Bruno; Antonio R. M., Granata; Carani, Cesare
abstract

Case Report of a patient with coexisting congenital Adrenal Hyperplasia and Klinefelter Syndrome. The coexistence of a condition of androgen excess masked most of the features of the androgen deficiency due to the Klinefelter Syndrome


2000 - Clinical aspects of congenital estrogen defect and physiological role of estrogens in the human male [Abstract in Rivista]
Rochira, Vincenzo; Antonio, Balestrieri; Madeo, Bruno; Antonio R. M., Granata; Carani, Cesare
abstract

Until the discovery of cases of men with congenital estrogen deficiency the role of estrogens in men remained underestimated. This abstract summarize the increasing evidence about estrogen action on bone, fertility, sexual behavior and several metabolic functions in men.


2000 - Clinical aspects of congenital estrogen defect and physiological role of estrogens in the human male. [Relazione in Atti di Convegno]
Rochira, Vincenzo; Antonio, Balestrieri; Madeo, Bruno; Antonio R. M., Granata; Carani, Cesare
abstract

The chapter deals with the clinical aspects of congenital estrogen deficiency and the study of the role estrogen of human male


2000 - Congenital aromatase deficiency: bilateral osteonecrosis of the femoral head [Abstract in Rivista]
Rochira, Vincenzo; Antonio, Balestrieri; Madeo, Bruno; Sgarbi, Ilaria; Luca, Baldini; Carani, Cesare
abstract

The association of bilateral necrosis of femoral heads and congenital aromatase deficiency is here reported and the underlying aspect discussed


2000 - Effect of different doses of transdermal estradiol (TE) on bone mineral density (BMD) and hormonal parameters in a man with congenital aromatase deficiency (AD) [Abstract in Rivista]
Rochira, Vincenzo; Antonio, Balestrieri; Fabbi, Matteo; Madeo, Bruno; Marco Faustini, Fustini; Carani, Cesare
abstract

To clarify the role of estrogen on male pituitary function and bone mineral density, the effects of different doses of transdermal E2 were evaluated in a man with aromatase deficiency


2000 - Effect of different doses of transdermal estradiol on bone mineral density and hormonal parameters in a man with congenital aromatase deficiency [Abstract in Atti di Convegno]
Rochira, Vincenzo; Marco Faustini, Fustini; Antonio, Balestrieri; Chiara, Grisolia; Madeo, Bruno; Luca, Baldini; Carani, Cesare
abstract

To clarify the role of estrogen on male pituitary function and bone mineral density, the effects of different doses of transdermal E2 were evaluated in a man with aromatase deficiency


2000 - Estrogen replacement therapy in a man with congenital aromatase deficiency: Effects of different doses of transdermal estradiol on bone mineral density and hormonal parameters [Articolo su rivista]
Rochira, Vincenzo; Marco Faustini, Fustini; Balestrieri, Antonio; Carani, Cesare
abstract

The effects of different doses of transdermal estradiol (TE) on bone mineral density (BMD) in a man with aromatase deficiency were evaluated. The study protocol was divided in the following four phases: phase 1, before estradiol treatment; phase 2, 50 mu g TE twice weekly for 6 months; phase 3, 25 mu g TE twice weekly for 9 months; and phase 4, 12.5 mu g TE twice weekly for 9 months. X-rays of hands, legs, and pelvis were performed, and BMD of the lumbar spine, hormonal parameters (LH, FSH, testosterone, and estradiol), and markers of bone turnover were determined during each phase. BMD in phase 1 was 0.933 g/cm(2) and increased to 1.051 and 1.173 g/cm(2) after 4 and 7 months of TE, respectively. In phase 3, BMD reached the maximum value (1.275 g/cm(2)). In phase 4, BMD decreased to 1.180 g/cm(2) and was 1.029 g/cm(2) at the end of the study protocol. A bilateral necrosis of femoral heads was also detected by x-ray films. In phase 1 serum testosterone was in the normal range, whereas serum estradiol was undetectable. During the 24-month period of treatment with TE (phases 2-4), estradiol was directly related to the amount of TE, whereas LH was inversely related to estradiol serum levels. Estradiol and gonadotropins reached optimal values only in phase 3, when FSH also was near normal; serum testosterone concentrations were normal in phases 3 and 4. This study confirms the role of estrogens in achieving and maintaining bone mineral content in the human male, providing further clinical tools useful in the management of bone loss in aromatase deficiency in the male, We suggest that the adequate substitutive dose of TE for maintaining both bone mass and normal estradiol serum levels in adult men with aromatase deficiency may be 25 mu g twice weekly (0.47 mu g/kg weekly).


2000 - Il ruolo degli estrogeni nel maschio [Relazione in Atti di Convegno]
Madeo, Bruno; Rochira, Vincenzo; Carani, Cesare
abstract

The article summarizes all the aspects related to the role of estrogens in the human male


2000 - MEDICINA OGGI: La terapia delle disfunzioni sessuali nel paziente diabetico [Articolo su rivista]
Carani, Cesare; Rochira, Vincenzo; Antonio, Balestrieri; Antonio R. M., Granata
abstract

The approach to sexual dysfunction in the diabetic patient is reviewed


2000 - Riduzione di gozzo multinodulare dopo tiroidite subacuta [Abstract in Atti di Convegno]
Luca, Baldini; Attilia, Pizzini; Katia, Cioni; Rochira, Vincenzo; Carani, Cesare
abstract

Effects of subacute thyroiditis on multi nodular goiter showing a reduction of the diameters of the nodules


2000 - Sildenafil and sleep related erections in men not affected by erectile dysfunction [Abstract in Rivista]
Antonio R. M., Granata; Rochira, Vincenzo; Annalisa, Perina; Madeo, Bruno; Carani, Cesare
abstract

Evaluation of the effect of Sildenafil and sleep related erections in men not affected by erectile dysfunction showing that sildenfil is able to improve penile erection even in men not suffering from erectile dysfunction.


1999 - Effects of long term transdermal estradiol treatment on bone mineral density in a man with aromatase deficiency [Abstract in Rivista]
Rochira, Vincenzo; Antonio, Balestrieri; Madeo, Bruno; Marco Faustini, Fustini; Vincenzo, Spina; Carani, Cesare
abstract

To clarify the role of estrogen on bone mineral density, the effects of different titrated doses of transdermal E2 were evaluated in a man with aromatase deficiency


1999 - Estrogen resistance and aromatase deficiency [Capitolo/Saggio]
Simoni, Manuela; Rochira, Vincenzo; Marco Faustini, Fustini; Carani, Cesare
abstract

The chapter deals with the aspects of estrogen resistance and aromatase deficiency. In particular the role of serum estrogens in the control of gonadotropin feedback is reviewed.


1999 - Il deficit estrogenico nell’uomo: aspetti clinici [Abstract in Atti di Convegno]
Carani, Cesare; Rochira, Vincenzo; Vincenzo, Spina; Fabbi, Matteo; Madeo, Bruno; Antonio, Balestrieri
abstract

The improvement of our knowledge of the natural history of congenital estrogen deficiency in men clarify the real impact of estrogens on men


1999 - Iperparatiroidismo primitivo: linee guida di diagnosi e terapia [Articolo su rivista]
Balestrieri, A; Rochira, Vincenzo; Carani, Cesare; FAUSTINI FUSTINI, M; Zagni, P.
abstract

not available


1999 - Lack of estrogens: clinical aspects [Abstract in Rivista]
Carani, Cesare; Antonio, Balestrieri; Marco Faustini, Fustini; Antonio R. M., Granata; Rochira, Vincenzo
abstract

The improvement of our knowledge of the natural history of congenital estrogen deficiency in men clarify the real impact of estrogens on men


1999 - Oestrogen deficiency in men: where are we today? [Articolo su rivista]
Marco Faustini, Fustini; Rochira, Vincenzo; Carani, Cesare
abstract

The article deals with the role of estrogens in men according to the increasing evidence that the old view on the main role androgens in men and estrogens in females did not fully explain what happens in men with congenital estrogen deficiency


1999 - Oestrogen role in the male sexual behaviour: insights from the natural model of aromatase deficiency [Abstract in Rivista]
Antonio R. M., Granata; Rochira, Vincenzo; Madeo, Bruno; Antonio, Balestrieri; Augusto, Baldini; Carani, Cesare
abstract

The study of the sexual behaviour in men with aromatase deficiency suggests that oestrogens in humans do not affect gender-identity and sexual orientation but could have a role in male sexual activity


1999 - Role of oestrogen in male sexual behaviour: insights from the natural model of aromatase deficiency. [Articolo su rivista]
Carani, Cesare; Rochira, Vincenzo; Marco Faustini, Fustini; Balestrieri, Antonio; Antonio R. M., Granata
abstract

OBJECTIVE: In order to evaluate the role of oestrogens on human male sexual behaviour, the gender-identity, psychosexual orientation and sexual activity of a man with a congenital lack of oestradiol resulting from an inactivating mutation of the aromatase P450 gene was investigated. The psychosexual and sexual behavioural evaluations were performed before and during testosterone treatment and before oestradiol treatment, during three phases of different dosages of oestradiol treatment. DESIGN: The study was performed before (phase A) and during (phase B) testosterone enanthate treatment (250 mg i.m. every 10 days, for 6 months), during testosterone withdrawal (phase C), and during each of the following transdermal oestradiol treatments: 50 microg twice a week for 6 months (phase D); 25 microg twice a week for 9 months (phase E), and 12.5 microg twice a week for 9 months (phase F). MEASUREMENTS: Sexual behaviour was investigated by a sexological interview and by a 2-month self-reported daily diary performed during each phase of the protocol study. Furthermore, during each oestradiol treatment (phase C, D, E and F), a study of depression, anxiety trait and sexual behaviour was performed by the Beck Depression Inventory (BDI), the Spielberger Trait Anxiety Inventory (STAI) and the Golombok-Rust Inventory of Sexual Satisfaction (GRISS), respectively. Sexual orientation and gender-identity were evaluated by the BEM Sex Role Inventory (BSRI). Serum testosterone and oestradiol were measured during each phase of the study. RESULTS: Before oestradiol treatment (phase C), serum oestradiol was undetectable, while it rose to 356.1, 88.1 and 55.1 pmol/l during phases D, E and F, respectively. Before any oestradiol treatment, during phase D, phase E and phase F serum testosterone was 18.13, 0.72, 14.3 and 18.51 nmol/l, respectively. The patient's gender-identity as assessed by BSRI and by the sexological interview was clearly male. The psychosexual orientation evaluated by BSRI, by the sexological interview and by the analysis of the self-filled diary was heterosexual. Relevant modification of the patient's sexual behaviour occurred only during oestrogen treatment. This was more evident during both phase E and phase F, and concerned the behavioural parameters with an increase of libido, frequency of sexual intercourse, masturbation and erotic fantasies. A reduction of BDI and STAI scores was detected during the oestrogen phases. CONCLUSIONS: The study of the sexual behaviour in this man with aromatase deficiency suggests that oestrogens in humans do not affect gender-identity and sexual orientation but could have a role in male sexual activity.


1999 - Sexual steroids and bone maturation. [Articolo su rivista]
Rochira, Vincenzo; Balestrieri, Antonio; Spina, Vincenzo; M., Fabbi; Madeo, Bruno; A., Baldini; Carani, Cesare
abstract

Sex steroids, particularly estrogens promote bone elongation at puberty and the closure of epiphyseal growth plates. The latter event is under the control of estrogens, while testosterone is not able to determine the epiphyseal closure and the stop of growth. Even bone accrual and the achievement of peak bone mass are mainly regulated by estrogens in both men and women.


1998 - Body composition and plasma leptin in acromegalics treated with pituitary microsurgery [Abstract in Atti di Convegno]
Carani, Cesare; Rochira, Vincenzo; Roberto, Vettor; Antonio, Balestrieri; Claudio, Pagano; Augusto, Baldini; Giorgio, Frank; Renato, Pasquali
abstract

The study investigated the leptin levels in acromegalic patients, according to body fat mass.


1998 - Bone radiological findings in a man affected by aromatase deficiency treated with estrogens [Abstract in Atti di Convegno]
Antonio, Balestrieri; Rochira, Vincenzo; Marco Faustini, Fustini; Vincenzo, Spina; Carani, Cesare
abstract

Estrogen replacemente treatment in a man affected by aromatase deficiency changes bone radiological aspects leading to a fusion of the epiphyses of long bones, the latter was not achieved with the treatment of testosterone alone.


1998 - Case Report: congenital adrenal hyperplasia in a man with Klinefelter Syndrome [Abstract in Rivista]
Rochira, Vincenzo; Antonio, Balestrieri; Beniamino, Coppa; Raffaella, Mantovani; Monica, Bevini; Augusto, Baldini; Marrama, Paolo
abstract

Case Report of a patient with coexisting congenital Adrenal Hyperplasia and Klinefelter Syndrome. Andregen excess due to adrenal dysfunction masked the signs and symptoms of hypogonadism due to Klinefelter Syndrome


1998 - Differenziazione psicosessuale nell'uomo [Articolo su rivista]
Coppa, B; Granata, Arm; Rochira, Vincenzo; Madeo, Bruno; Carani, Cesare
abstract

not available


1998 - Ipotiroidismo definitivo dopo alcolizzazione percutanea di adenoma tossico: descrizione di un caso “insolito” [Abstract in Atti di Convegno]
Katia, Cioni; Antonio, Balestrieri; Rochira, Vincenzo; Madeo, Bruno; Augusto, Baldini; Carani, Cesare
abstract

The case report of a female patient with a Plummer Adenoma who became hypothyroid after PEI is here reported.


1998 - Sexual behavior in a man with aromatase deficiency: role of estrogen on male sexuality [Abstract in Atti di Convegno]
Carani, Cesare; Antonio R. M., Granata; Cecilia, Garau; Monica, Bevini; Beniamino, Coppa; Rochira, Vincenzo
abstract

The evaluation of sexual behavior in a man with aromatase deficiency explains the role of estrogen on male sexuality


1998 - Sexual behavior in a man with aromatase deficiency: role of estrogen on male sexuality [Abstract in Rivista]
Antonio R. M., Granata; Rochira, Vincenzo; Marco Faustini, Fustini; Monica, Bevini; Madeo, Bruno; Carani, Cesare
abstract

The evaluation of sexual behavior in a man with aromatase deficiency explains the role of estrogen on male sexuality. In particular estrogen are not necessary for gender identity and sexual orientation development.


1998 - Sexuality in a man with aromatase deficiency [Abstract in Atti di Convegno]
Carani, Cesare; Antonio, Balestrieri; Antonio R. M., Granata; Monica, Bevini; Rochira, Vincenzo
abstract

The evaluation of sexual behavior in a man with aromatase deficiency explains the role of estrogen on male sexuality. In particular estrogens are not necessary for the development of gender identity and sexual orientation


1998 - Sindromi da deficit congenito di estrogeni. [Relazione in Atti di Convegno]
Carani, Cesare; Marco Faustini, Fustini; Rochira, Vincenzo; Stefania, Serpente; Antonio R. M., Granata; Marrama, Paolo
abstract

The article deals with the role of estrogens on male fertility.


1998 - Sleep-related erections and testosterone levels in men [Abstract in Rivista]
Antonio R. M., Granata; Rochira, Vincenzo; Paolo, Marrama; Carani, Cesare
abstract

In order to identify a possible threshold for a serum testosterone level below which sleep-related erections are impaired and to compare this threshold with the normal laboratory range of testosterone serum levels, we studied hypogonadal and eugonadal subjects


1998 - Sleep-related erections and testosterone levels in men [Abstract in Atti di Convegno]
Antonio R. M., Granata; Cecilia, Garau; Monica, Bevini; Antonio, Balestrieri; Rochira, Vincenzo
abstract

In order to identify a possible threshold for a serum testosterone level below which sleep-related erections are impaired and to compare this threshold with the normal laboratory range of testosterone serum levels, we studied hypogonadal and eugonadal subjects


1997 - A case of hermaphroditism: psychoendocrine pattern [Abstract in Atti di Convegno]
Antonio R. M., Granata; Daniela, Rebecchi; Raffaella, Mantovani; Rochira, Vincenzo; Beniamino, Coppa; Madeo, Bruno; Carani, Cesare
abstract

Description of psychological and endocrine features of an hermaphrodite


1997 - Relationship between serum leptin and serum GH, IGF-1 concentrations in acromegalics treated with pituitary microsurgery [Abstract in Rivista]
Rochira, Vincenzo; Antonio, Balestrieri; Marco Faustini, Fustini; Augusto, Baldini; Giorgio, Frank; P., Gambineri; Carani, Cesare
abstract

Leptin serum levels were directly related to body fat, but not with GH and IGF-1 serum levels in acromegalics.


1997 - Relationship between sleep-related erections and testosterone levels in men [Articolo su rivista]
Antonio R. M., Granata; Rochira, Vincenzo; Alex, Lerchl; Marrama, Paolo; Carani, Cesare
abstract

In order to identify a possible threshold for a serum testosterone level below which sleep-related erections are impaired and to compare this threshold with the normal laboratory range of testosterone serum levels, we studied 201 men, including hypogonadal and eugonadal subjects. The protocol included nocturnal penile tumescence and rigidity monitoring and the assay of basal testosterone, prolactin, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) serum levels. The subjects were assigned to eight groups according to their testosterone serum levels. Group 1 had testosterone between 0 ng/dl and 99 ng/dl; the following seven groups had testosterone levels increased by 100 ng/dl per group. The groups of subjects with higher testosterone serum levels showed almost constantly higher values for the erectile parameters we studied than the subjects with serum testosterone less than or equal to 99 ng/dl. On the contrary, subjects with higher testosterone serum levels showed higher values for only some erectile parameters compared to the subjects with serum testosterone between 100 and 199 ng/dl, without any significant difference among the groups with testosterone serum levels in the normal range. Our data suggest that the serum testosterone threshold for sleep-related erections is lower than the low end of the normal laboratory male range and is about 200 ng/dl. Further efforts are needed to find the precise serum testosterone ranges related to normal sleep-related erections and to normal sexual behavior, the testosterone ranges of which will probably not coincide.


1997 - Relationship between sleep-related erections and testosterone levels in men [Abstract in Rivista]
Antonio R. M., Granata; Rochira, Vincenzo; Beniamino, Coppa; Augusto, Baldini; Marrama, Paolo; Carani, Cesare
abstract

In order to identify a possible threshold for a serum testosterone level below which sleep-related erections are impaired and to compare this threshold with the normal laboratory range of testosterone serum levels, we studied hypogonadal and eugonadal subjects


1997 - Thyroid function in children with Down's syndrome [Abstract in Rivista]
Rochira, Vincenzo; Antonio R. M., Granata; Antonio, Balestrieri; Ornella, Biagioni; Franco, Nardocci; Stefania, Serpente; Augusto, Baldini
abstract

Thyroid function in a children with Down's syndrome


1996 - An attempt to improve the reliability of the penile response to intracavernosal injection of prostaglandin E1: updating of our previous data [Abstract in Atti di Convegno]
Antonio R. M., Granata; Rochira, Vincenzo; Raffaella, Mantovani; Antonio, Balestrieri; Maurizio, Sudano; Carani, Cesare
abstract

The study investigated the effects in term of quality of penile erection of two different regimens: 1) intracarnosal injection of PGE1 alone and 2) intracarnosal injection of PGE1 plus oral propranolol. The results of the study did not show any difference between the two treatment regimens suggesting that a pre-treatment with propranolol does not improve the penile response to intracavernosal injection.


1996 - Identità ed ormoni [Relazione in Atti di Convegno]
Carani, Cesare; Antonio R. M., Granata; Rochira, Vincenzo; Stefania, Serpente; Marrama, Paolo
abstract

The chapter deals with the role of hormones in the development of gender identity and it analyzes all the relationships among phenotypic sexual appearance, chromosomal sex and gender identity development.


1996 - La funzionalità tiroidea in pazienti in età pediatrica affetti da sindrome di Down [Abstract in Atti di Convegno]
Stefania, Serpente; Rochira, Vincenzo; Antonio, Balestrieri; Raffaella, Mantovani; Antonio R. M., Granata; Ornella, Biagioni; Franco, Nardocci; Augusto, Baldini; Carani, Cesare
abstract

Evaluation of thyroid function in a group of children with Down's syndrome showing that subclinical hypothyroidism is common in these patients and that free thyroid hormones often are non concordant with TSH, suggesting a possible alteration of the mechanism of feedback.


1996 - Monitoraggio delle erezioni correlate al sonno nella valutazione delle componenti psicogena ed organica dell’inadeguatezza sessuale maschile comparsa dopo intervento chirurgico per neoplasia colon-rettale [Abstract in Atti di Convegno]
Granata, Antonio R. M.; Rochira, Vincenzo; Raffaella, Mantovani; Beniamino, Coppa; Antonio, Balestrieri; Lonardi, Roberto
abstract

Monitoring of sleep-related erections in the assessment of psychogenic and organic components of male sexual inadequacy appearance after surgery for colorectal cancer might distinguish organic from psychogenic erectile dysfunction.


1996 - Ormoni e disturbi sessuali maschili e femminili [Articolo su rivista]
C., CARANI C; Antonio R. M., Granata; Rochira, Vincenzo; P., Marrama
abstract

not available


1996 - Prolactin, testosterone and male sexuality [Abstract in Rivista]
Carani, Cesare; Antonio R. M., Granata; Marco Faustini, Fustini; Rochira, Vincenzo; Raffaella, Mantovani; Cecilia, Garau; Marrama, Paolo
abstract

Testosterone but not prolactin is able to modulate nocturnal penile erectioons


1996 - Sleep-related penile erections and puberty [Abstract in Atti di Convegno]
Carani, Cesare; Rochira, Vincenzo; Augusto, Baldini; Beniamino, Coppa; Antonio R. M., Granata
abstract

The evaluation of sleep-related erection during puberty according to serum testosterone levels suggest that minimal amounts of serum Testosterone in the first phases of pubertal development are able to modify and increase the number and the quality of nocturnal erections in boys.


1996 - Stress e sessualità nell'uomo [Articolo su rivista]
Antonio R. M., Granata; Rochira, Vincenzo; Raffaella, Mantovani
abstract

Noradrenaline and adrenal corticosteroid both counteract the normal vasoactive response that leads penile erection in men


1996 - The role of testosterone on the sleep related penile erections [Abstract in Rivista]
Rochira, Vincenzo; Beniamino, Coppa; Antonio, Balestrieri; Giuseppina, Sanzini; Cecilia, Garau; Antonio R. M., Granata
abstract

In order to identify a possible threshold for a serum testosterone level below which sleep-related erections are impaired and to compare this threshold with the normal laboratory range of testosterone serum levels, we studied hypogonadal and eugonadal subjects by means of Rigiscan, a tool useful to monitor penile tumescence and rigidity during sleep.


1995 - An attempt to improve the reliability of the penile response to intracavernosal injection of prostaglandin E1 [Abstract in Atti di Convegno]
Granata, Antonio R. M.; Rochira, Vincenzo; Raffaella, Mantovani; Lonardi, Roberto; Antonio, Balestrieri; Carani, Cesare
abstract

The association of oral propranolol and intracavernosal PGE1 was tested as a potential way for reinforcing and increase the penile response to PGE1 in term of a better quality of erection.


1995 - Metastasi ipofisaria da carcinoma follicolare tiroideo [Abstract in Atti di Convegno]
Marco Faustini, Fustini; Giorgio, Frank; Enrico De, Micheli; Balestrieri, Antonio; Antonio, Fioravanti; Rochira, Vincenzo; Felice, Giangaspero
abstract

Description of a case of pituitary metastasis of a follicular carcinoma of the thyroid


1995 - Prolactin and testosterone: their role on male sexuality [Abstract in Rivista]
Carani, Cesare; Beniamino, Coppa; Rochira, Vincenzo; Antonio, Balestrieri; Antonio R. M., Granata
abstract

Effects of testosterone and prolactin on male sexuality and nocturnal erections


1995 - Ruolo del testosterone sulle erezioni peniene correlate al sonno notturno [Abstract in Atti di Convegno]
Carani, Cesare; Antonio R. M., Granata; Rochira, Vincenzo; Raffaella, Mantovani; Augusto, Baldini; Marco Faustini, Fustini; Marrama, Paolo
abstract

In order to identify a possible threshold for a serum testosterone level below which sleep-related erections are impaired and to compare this threshold with the normal laboratory range of testosterone serum levels, we studied hypogonadal and eugonadal subjects


1995 - Sleep-related erections as a possible individual marker [Abstract in Atti di Convegno]
Carani, Cesare; Antonio R. M., Granata; Rochira, Vincenzo; Beniamino, Coppa; Marrama, Paolo
abstract

A repeated NPTRM was performed in each men enrolled in the study in order to check if NPTRM parameters are a marker of each individual men.


1995 - Stress e sessualità nell'uomo [Abstract in Atti di Convegno]
Antonio R. M., Granata; Rochira, Vincenzo; Raffaella, Mantovani
abstract

Description of the relationship between stress and sexual function with particular attention payed to the role of cortisol, noradrenaline and prolactin.


1995 - Testosterone and prolactin: behavioural and psychophysiological approaches in men. [Relazione in Atti di Convegno]
Carani, Cesare; Antonio R. M., Granata; Rochira, Vincenzo; Beniamino, Coppa; Marrama, Paolo
abstract

The chapter deals with the behavioural and psychophysiological effects of testosterone and prolactin in men.


1995 - Testosterone: approccio comportamentale e psicofisiologico nel maschio [Articolo su rivista]
Antonio, R.; M., Granata; Beniamino, Coppa; Rochira, Vincenzo; Augusto, Baldini; Carani, Cesare
abstract

The article summarize the role of testosterone on male sexual behavior with particular regard to morning erections during visual erotic stimulation and nocturnal erections during sleep.


1994 - Fisiologia della sessualità nell'uomo e nella donna [Relazione in Atti di Convegno]
Antonio R. M., Granata; Rochira, Vincenzo; Stefania, Serpente; Augusto, Baldini; Carani, Cesare
abstract

The chapter summarize the normal sexual response in both men and women and in particular explains how the mechanisms involved in the human sexual response are regulated by hormones and central nervous system


1994 - Testosterone and prolactin: behavioural and psychophysiological approaches in men [Abstract in Atti di Convegno]
Carani, Cesare; Antonio R. M., Granata; Rochira, Vincenzo; Beniamino, Coppa; Marrama, Paolo
abstract

Effects of testosterone and prolactin on male sexuality