Genetic and epigenetic aspects of the KISS1 and KISS1R genes in pubertal development and central precocious puberty

Abstract

The onset of puberty is a pivotal developmental milestone, and the release of gonadotropin-releasing hormone (GnRH) and luteinizing hormone is a key factor in the initiation of puberty. Both kisspeptin and its receptor (KISS1) and KISS1 receptor (KISS1R) play significant roles in regulating GnRH release, and consequently, the initiation of puberty. Central precocious puberty (CPP) is a condition in which the development of puberty is driven by the premature activation of the hypothalamic-pituitary-gonadal axis. In girls, CPP is primarily idiopathic, and genetic and epigenetic aspects of KISS1 and KISS1R have been implicated in its etiology. This review aimed to provide an overview of the current knowledge regarding mutations and polymorphisms in KISS1 and KISS1R associated with CPP. Additionally, this study provides a comprehensive review of the epigenetic regulation of the KISS1 gene in the context of puberty onset and CPP.