High Prevalence of Gene Variants in Boys of Prepubertal Age with Clinical Suspicion of Central Hypogonadism and Low AMH.

BRUNELLO F; ESNAOLA MARIA; BEDECARRÁS P; REY RA; SANSÓ G; BERENSTEIN ARIEL; MARTÍ M; GRINSPON R P; SCAGLIA P; IZQUIERDO A; MARIA G. ROPELATO

California

Congreso; ENDO Online 2020; 2020

the Endocrine Society

Introduction: In boys of prepubertal age, the diagnosis of central hypogonadism may be difficult to ascertain since gonadotropins and testosterone are normally low. Sertoli cell markers, like AMH and inhibin B, may be useful. In recent years, with the development of next generation sequencing (NGS) technology, the number of genes associated with central hypogonadism has had an exponential increase. However, even with these advanced techniques, the gene variants with potential pathogenicity can be found at present in only 30-50% of the patients.Hypothesis of the study: Low serum AMH is an appropriate screening biomarker to select patients for NGS, in order to increase the probability of making a genetic diagnosis in boys of prepubertal age with suspected central hypogonadism.Patients and methods: All patients aged 1-10 yr referred between 2001 and 2018 with clinical suspicion of central hypogonadism (micropenis and cryptorchidism and/or microorchidism), with low serum AMH (