AUTHOR=Festa Adalgisa , Umano Giuseppina Rosaria , Miraglia del Giudice Emanuele , Grandone Anna 

TITLE=Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration?

JOURNAL=Frontiers in Endocrinology

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2020.00253

DOI=10.3389/fendo.2020.00253

ISSN=1664-2392

ABSTRACT=<p>Delayed puberty is a common reason of pediatric endocrinological consultation. It is often a self-limited (or constitutional) condition with a strong familial basis. The type of inheritance is variable but most commonly autosomal dominant. Despite this strong genetic determinant, mutations in genes implicated in the regulation of hypothalamic–pituitary–gonadal axis have rarely been identified in cases of self-limited delayed puberty and often in relatives of patients with congenital hypogonadotropic hypogonadism (i.e., <italic>FGFR1</italic> and <italic>GNRHR</italic> genes). However, recently, next-generation sequencing analysis has led to the discovery of new genes (i.e., <italic>IGSF10, HS6ST1, FTO</italic>, and <italic>EAP1</italic>) that are implicated in determining isolated self-limited delayed puberty in some families. Despite the heterogeneity of genetic defects resulting in delayed puberty, genetic testing may become a useful diagnostic tool for the correct classification and management of patients with delayed puberty. This article will discuss the benefits and the limitations of genetic testing execution in cases of delayed puberty.</p>