RESUMO
BACKGROUND: Inhibin B is a hormone produced by the Sertoli cells that can provide important information for the investigation of disorders of sex development (DSD) with 46,XY karyotype. The aim of this study is to compare two enzyme-linked immunosorbent assay (ELISA) assays for dosage of serum inhibin B in patients with 46,XY DSD with normal testosterone secretion. METHODS: Twenty-nine patients with 46,XY DSD and normal testosterone secretion (partial androgen insensitivity syndrome [PAIS] [n=8]; 5α-reductase deficiency [n=7] and idiopathic 46,XY DSD [n=14]) were included. Molecular analysis of the AR and SRD5A2 genes were performed in all patients and the NR5A1 gene analysis in the idiopathic group. Measurements of inhibin B were performed by two second-generation ELISA assays (Beckman-Coulter and AnshLabs). Assays were compared using the interclass correlation coefficient (ICC) and the Bland-Altman method. RESULTS: ICC was 0.915 [95% confidence interval (CI): 0.828-0.959], however, a discrepancy was observed between trials, which is more evident among higher values when analyzed by the Bland-Altman method. CONCLUSIONS: It is recommended to perform the inhibin B measurement always using the same ELISA kit when several evaluations are required for a specific patient.
Assuntos
Transtorno 46,XY do Desenvolvimento Sexual/sangue , Ensaio de Imunoadsorção Enzimática , Subunidades beta de Inibinas/sangue , Testículo/metabolismo , Testosterona/metabolismo , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/sangue , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Adolescente , Adulto , Síndrome de Resistência a Andrógenos/sangue , Síndrome de Resistência a Andrógenos/diagnóstico , Síndrome de Resistência a Andrógenos/genética , Síndrome de Resistência a Andrógenos/fisiopatologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Transtorno 46,XY do Desenvolvimento Sexual/diagnóstico , Transtorno 46,XY do Desenvolvimento Sexual/genética , Transtorno 46,XY do Desenvolvimento Sexual/fisiopatologia , Hospitais Universitários , Humanos , Hipospadia/sangue , Hipospadia/diagnóstico , Hipospadia/genética , Hipospadia/fisiopatologia , Cariótipo , Masculino , Proteínas de Membrana/genética , Ambulatório Hospitalar , Receptores Androgênicos/genética , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Erros Inatos do Metabolismo de Esteroides/sangue , Erros Inatos do Metabolismo de Esteroides/diagnóstico , Erros Inatos do Metabolismo de Esteroides/genética , Erros Inatos do Metabolismo de Esteroides/fisiopatologia , Fator Esteroidogênico 1/genética , Testículo/fisiopatologia , Adulto JovemRESUMO
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations. The main etiology of 46,XX ovarian DSD was salt-wasting 21-hydroxylase deficiency. In 46,XX and 46,XY groups, other malformations were observed. In the DGD group, 46,XY partial gonadal dysgenesis, mixed gonadal dysgenesis, and ovotesticular DSD were more frequent. Low birth weight was observed in 42 cases of idiopathic 46,XY testicular DSD. The average age at diagnosis was 31.7 months. The final sex of rearing was male in 238 cases and female in 170. Only 6.6% (27 cases) needed sex reassignment. Conclusions. In this large DSD sample with ambiguous genitalia, the 46,XY karyotype was the most frequent; in turn, congenital adrenal hyperplasia was the most frequent etiology. Malformations associated with DSD were common in all groups and low birth weight was associated with idiopathic 46,XY testicular DSD.
RESUMO
PURPOSE: Positive impact of weight loss on sexual function and hormones has been demonstrated, and male fertility in this scenario is to be better defined. We evaluated the impact of lifestyle modifications and gastric bypass on sperm quality. METHODS: We prospectively studied 20 morbidly obese men during 24 months, randomized for intervention: lifestyle modifications (exercise and diet) for 4 months and subsequently gastric bypass (n = 10); and control: follow-up (n = 10). All patients underwent International Index of Erectile Function (IIEF-5) questionnaire, serum estradiol, prolactin (PRL), luteinizing and follicle-stimulating hormones (LH and FSH), free and total testosterones (FT and TT) and semen analysis at baseline (time 0), surgery 4 months later baseline (time 1) and final evaluation 24 months (time 2). RESULTS: Intervention group presented significant reduction in body mass index (BMI) at times 1 and 2, compared to control. There were no significant differences among sperm parameters between groups at times 0, 1, and 2 and among times 0, 1, and 2 in each group. Increases in IIEF-5 score (P = .0469), TT (P = .0349), and FSH (P = .0025) and reduction in PRL (P < .0001) were observed in the intervention group from times 0 to 2 and 1 to 2. Comparing groups at time 2, IIEF-5, TT, and FT increased significantly in the intervention group (P = .0224, P = .0043, and P = .0149, respectively). CONCLUSIONS: Surgery-induced massive weight loss does not interfere with sperm quality, while it increased the quality of sexual function, TT, FT and FSH and reduced PRL. Lifestyle modifications impacted merely the BMI. New studies are warranted, mostly considering birth rate as primary end point and including infertile men.