Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism.

BERGADÁ, I; ANDREONE, L; BEDECARRÁS, P; ROPELATO MG; COPELLI, S; LAISSUE, P; REY, RA; CAMPO, S

CLINICAL ENDOCRINOLOGY

Año: 2008 vol. 68 p. 240 - 246

0300-0664

OBJECTIVE: X-linked adrenal hypoplasia congenita (AHC, OMIM 300200) due tomutations in the DAX-1 gene is frequently associated to hypogonadotrophichypogonadism (HHG, OMIM 238320). Clinical variants with delayed-onset have beenrecognized. The objective of this study is to assess Sertoli cell functionthroughout pubertal development in patients with childhood-onset AHC due to stop mutations in the DAX-1 gene. DESIGN: Observational follow-up study ofgonadotrophin pulsatility pattern, and serum levels of antimüllerian hormone and inhibin B through pubertal development in these patients. PATIENTS: Threepatients belonging to two families with AHC were included in this study.MEASUREMENTS: The gonadotrophic pattern, serum inhibin B and antimüllerianhormone were determined in relation to clinical Tanner stage of pubertaldevelopment. RESULTS: One patient showed a marked elevation in serum FSHconcomitantly with low inhibin B and antimüllerian hormone levels, indicating aprimary testicular dysfunction. The other two patients showed a gonadotrophicpattern of HHG, and their serum levels of inhibin B and antimüllerian hormonealso reflected a moderate primary testicular dysfunction. The three patients wereazoospermic. CONCLUSIONS: These cases give further insight into the clinicalspectrum of phenotypes of the hypothalamic-pituitary-gonadal axis in patientswith variants in hypogonadism associated with childhood-onset X-linked AHC due toDAX-1 mutations.