RESUMO
CONTEXT: Infertility observed in adult males with congenital adrenal hyperplasia (CAH) has been associated with testicular adrenal rest tumors (TART) that may originate during childhood. OBJECTIVE: Our objective was to describe the prevalence of TART and Sertoli and Leydig cell function in a group of boys aged 2-10 yr with CAH and to compare prevalence with that of a control group. DESIGN: From August 2005 to January 2007, 19 patients with classical CAH (CAH group) were referred from seven endocrinology centers. METHODS: We studied 19 subjects in the CAH group and, as a control group, 13 boys from the community that did not have testicular diseases. A complete physical exam was performed. High-resolution ultrasound was used to determine TART prevalence. Inhibin B and anti-Müllerian hormone were used as Sertoli cell markers. The ratio between basal testosterone levels and testosterone levels 72 h after beta-human chorionic gonadotropin (5000 U/m2) treatment [(T72- T0)/T0] was used to evaluate Leydig cell response. RESULTS: CAH and control groups were comparable in chronological age (5.9 vs. 5.6 yr; P = 0.67) and bone age/chronological age ratio (1.09 vs. 1.03; P = 0.09). TART prevalence was four of 19 (21%) in the CAH group. Lower values for inhibin B (49.2. vs. 65.2 pg/ml; P = 0.018), anti-Müllerian hormone (70.1 vs. 94.2 ng/ml; P = 0.002), and (T72- T0)/T0 (5.6 vs. 13.6; P < 0.01) were observed in the CAH group. CONCLUSION: TART in prepubertal males with classic CAH could be found during childhood. We also report differences in markers of gonadal function in a subgroup of patients, especially in those with inadequate control.
Assuntos
Hiperplasia Suprarrenal Congênita/fisiopatologia , Tumor de Resto Suprarrenal/fisiopatologia , Células Intersticiais do Testículo/fisiologia , Células de Sertoli/fisiologia , Neoplasias Testiculares/fisiopatologia , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/genética , Tumor de Resto Suprarrenal/complicações , Tumor de Resto Suprarrenal/genética , Antropometria , Hormônio Antimülleriano/metabolismo , Criança , Pré-Escolar , DNA/genética , Hormônios/sangue , Humanos , Inibinas/metabolismo , Masculino , Neoplasias Testiculares/complicações , Neoplasias Testiculares/genéticaRESUMO
Se presenta el caso de un niño de ocho años de edad con hiperplasia suprarrenal congénita por deficiencia de 21-hidroxilasa, e hiperplasia de restos adrenales paratesticulares, que fue diagnosticada inicialmente como portador de un tumor de células de Leydig, proponiéndosele orquiectomía bilateral. El estudio mediante prueba de inhibición con dexametasona y posteriormente de estimulación con ACTH evidenció el defecto enzimático y permitió establecer el diagnóstico de certeza. Posteriormente, aún bajo inhibición con dexametasona, se realizaron pruebas de estimulación con hormona hipotalámica liberadora de gonadotropina y gonadotropina coriónica humana, que establecieron la existencia de pubertad precoz verdadera asociada a su patología de base, y probablemente secundaria a sensibilización hipotalámica por exposición crónica a un medio hiperandrogénico