Department of Woman, Child, General and Specialized Surgery, University of Campania L. Vanvitelli, Naples, Italy.
Front Endocrinol (Lausanne). 2020 May 19;11:253. doi: 10.3389/fendo.2020.00253. eCollection 2020.
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., and genes). However, recently, next-generation sequencing analysis has led to the discovery of new genes (i.e., , and ) 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.
青春期延迟是小儿内分泌科常见的就诊原因。它通常是一种自限性（或特发性）疾病，具有强烈的家族基础。遗传类型是可变的，但最常见的是常染色体显性遗传。尽管存在这种强烈的遗传决定因素，但在自限性青春期延迟病例中，很少发现与下丘脑-垂体-性腺轴调节相关的基因突变，而在先天性低促性腺激素性性腺功能减退症患者的亲属中经常发现（即 和 基因）。然而，最近，下一代测序分析导致发现了一些新的基因（即 、 和 ），这些基因与某些家族中孤立的自限性青春期延迟有关。尽管导致青春期延迟的遗传缺陷存在异质性，但基因检测可能成为正确分类和管理青春期延迟患者的有用诊断工具。本文将讨论在青春期延迟病例中进行基因检测的益处和局限性。
