Recent advances in the genetic etiology of central precocious puberty

ZHANG Yu-Yun; LUO Fei-Hong

doi:10.7499/j.issn.1008-8830.2309098

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Chinese Journal of Contemporary Pediatrics ›› 2024, Vol. 26 ›› Issue (3) : 302-307. DOI: 10.7499/j.issn.1008-8830.2309098

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Recent advances in the genetic etiology of central precocious puberty

ZHANG Yu-Yun, LUO Fei-Hong

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Abstract

Central precocious puberty (CPP) is a developmental disorder caused by early activation of the hypothalamic-pituitary-gonadal axis. The incidence of CPP is rapidly increasing, but the underlying mechanisms are not fully understood. Previous studies have shown that gain-of-function mutations in the KISS1R and KISS1 genes and loss-of-function mutations in the MKRN3, LIN28, and DLK1 genes may lead to early initiation of pubertal development. Recent research has also revealed the significant role of epigenetic factors such as DNA methylation and microRNAs in the regulation of gonadotropin-releasing hormone neurons, as well as the modulating effect of gene networks involving multiple variant genes on pubertal initiation. This review summarizes the genetic etiology and pathogenic mechanisms underlying CPP.

Key words

Central precocious puberty / KISS1 gene / MKRN3 gene / DLK1 gene / Epigenetics / Gene network / Child

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ZHANG Yu-Yun, LUO Fei-Hong. Recent advances in the genetic etiology of central precocious puberty[J]. Chinese Journal of Contemporary Pediatrics. 2024, 26(3): 302-307 https://doi.org/10.7499/j.issn.1008-8830.2309098

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