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

BERGADÁ, I.; ANDREONE, L.; BEDECARRÁS, P.; COPELLI, S.; LAISSUE, P.; REY, R.; CAMPO, S.

CLINICAL ENDOCRINOLOGY

WILEY-BLACKWELL PUBLISHING, INC

Año: 2008 vol. 68 p. 240 - 246

0300-0664

X-linked adrenal hypoplasia congenita (AHC, MIM 300200) due to mutations in the DAX-1 gene is frequently associated to hypogonadotrophic hypogonadism (HHG, MIM 238320). Clinical variants with delayed-onset have been recognized. The objective of this study was 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 primary 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.