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

BERGADÁ I; ANDREONE LUZ; BEDECARRÁS P; ROPELATO MG; COPELLI S; LAISSUE P; REY RA; CAMPO SM

CLINICAL ENDOCRINOLOGY

WILEY-BLACKWELL PUBLISHING, INC

Lugar: Londres; Año: 2008

0300-0664

ObjectiveX-linked adrenal hypoplasia congenita (AHC, OMIM300200) due to mutations in theDAX-1gene is frequently associatedto hypogonadotrophic hypogonadism (HHG, OMIM 238320).Clinical variants with delayed-onset have been recognized. Theobjective of this study is to assess Sertoli cell function throughoutpubertal development in patients with childhood-onset AHC due tostop mutations in theDAX-1gene.DesignObservational follow-up study of gonadotrophin pulsatilitypattern, and serum levels of antimüllerian hormone and inhibin Bthrough pubertal development in these patients.PatientsThree patients belonging to two families with AHC wereincluded in this study.MeasurementsThe gonadotrophic pattern, serum inhibin B andantimüllerian hormone were determined in relation to clinicalTanner stage of pubertal development.ResultsOne patient showed a marked elevation in serum FSHconcomitantly with low inhibin B and antimüllerian hormone levels,indicating a primary testicular dysfunction. The other two patientsshowed a gonadotrophic pattern of HHG, and their serum levels ofinhibin B and antimüllerian hormone also reflected a moderate primarytesticular dysfunction. The three patients were azoospermic.ConclusionsThese cases give further insight into the clinical spectrumof phenotypes of the hypothalamic?pituitary?gonadal axis inpatients with variants in hypogonadism associated with childhoodonsetX-linked AHC due toDAX-1mutations.