Seminiferous tubule function in delayed-onset X-Linked Adrenal Hypoplasia Congenita associated with incomplete Hypogonadotropic Hypogonadism

BERGADÁ, IGNACIO; ANDREONE, LUZ; BEDECARRÁS, PATRICIA; ROPELATO, MARÍA GABRIELA; COPELLI, SILVIA; LAISSUE, P; REY, RODOLFO; CAMPO, STELLA

CLINICAL ENDOCRINOLOGY

Lugar: Oxford, England; Año: 2007 vol. 68 p. 240 - 246

0300-0664

  Objective X-linked adrenal hypoplasia congenita (AHC, OMIM 300200) due to mutations in the DAX-1 gene is frequently associated to hypogonadotrophic hypogonadism (HHG, OMIM 238320). Clinical variants with delayed-onset have been recognized. The objective of this study is to assess Sertoli cell function throughout pubertal development in patients with childhood-onset AHC due to stop mutations in the DAX-1 gene. Design Observational follow-up study of gonadotrophin pulsatility pattern, and serum levels of antimüllerian hormone and inhibin B through pubertal development in these patients. Patients Three patients belonging to two families with AHC were included in this study. Measurements The gonadotrophic pattern, serum inhibin B and antimüllerian hormone were determined in relation to clinical Tanner stage of pubertal development. Results One patient showed a marked elevation in serum FSH concomitantly with low inhibin B and antimüllerian hormone levels, indicating a primary testicular dysfunction. The other two patients showed a gonadotrophic pattern of HHG, and their serum levels of inhibin B and antimüllerian hormone also reflected a moderate pri-mary testicular dysfunction. The three patients were azoospermic. Conclusions These cases give further insight into the clinical spectrum of phenotypes of the hypothalamic–pituitary–gonadal axis in patients with variants in hypogonadism associated with childhood-onset X-linked AHC due to DAX-1 mutations.