Manotas María Carolina, González Daniel Mauricio, Céspedes Camila, Forero Catalina, Rojas Moreno Adriana Patricia
Institute of Human Genetics, Faculty of Medicine, Pontificia Universidad Javeriana, Bogotá, Colombia.
Pediatric Endocrinologist, Hospital Universitario San Ignacio, Bogotá, Colombia.
Sex Dev. 2022;16(1):1-10. doi: 10.1159/000519039. Epub 2021 Oct 14.
Puberty is a complex transitional phase in which reproductive capacity is achieved. There is a very wide variation in the age range of the onset of puberty, which follows a familial, ethnic, and sex pattern. The hypothalamic-pituitary-gonadal axis and several genetic, environmental, and nutritional factors play an important role in the onset of and throughout puberty. Recently, there has been significant progress in identifying factors that affect normal pubertal timing. Different studies have identified single nucleotide polymorphisms (SNPs) that affect pubertal timing in both sexes and across ethnic groups. Single genes are implicated in both precocious and delayed puberty, and epigenetic mechanisms have been suggested to affect the development and function of the GnRH neuronal network and responsiveness of end organs. All these factors can influence normal puberty timing, precocious puberty, and delayed puberty. The objective of this review is to describe recent findings related to the genetic and epigenetic control of puberty and highlight the need to deepen the knowledge of the regulatory mechanisms of this process in the normal and abnormal context.
青春期是一个生殖能力得以实现的复杂过渡阶段。青春期开始的年龄范围差异很大，呈现出家族、种族和性别模式。下丘脑 - 垂体 - 性腺轴以及多种遗传、环境和营养因素在青春期的开始及整个过程中都起着重要作用。最近，在确定影响正常青春期时间的因素方面取得了重大进展。不同的研究已经确定了影响男女两性和不同种族青春期时间的单核苷酸多态性（SNP）。单基因与性早熟和青春期延迟都有关联，并且有人提出表观遗传机制会影响促性腺激素释放激素（GnRH）神经网络的发育和功能以及终末器官的反应性。所有这些因素都可以影响正常青春期时间、性早熟和青春期延迟。本综述的目的是描述与青春期的遗传和表观遗传控制相关的最新发现，并强调有必要加深对这一过程在正常和异常情况下调节机制的认识。
