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 R; CAMPO S

CLINICAL ENDOCRINOLOGY

Año: 2008 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 spec-trum 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.