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Updated: Oct 16, 2025

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Genetic factors in precocious puberty.

Young Suk Shim1, Hae Sang Lee1, Jin Soon Hwang1

  • 1Department of Pediatrics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Korea.

Clinical and Experimental Pediatrics
|October 19, 2021
PubMed
Summary

Idiopathic central precocious puberty (CPP) involves early activation of the reproductive axis, influenced by genetics and environment. Research explores genes like KISS1 and MKRN3, and epigenetic factors in CPP development.

Keywords:
Central precocious pubertyDLK1 geneKISS1 geneKISS1R geneMKRN3 gene

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Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • Pubertal onset results from hypothalamic-pituitary-gonadal (HPG) axis reactivation, influenced by genetic and non-genetic factors.
  • Central precocious puberty (CPP) is premature HPG axis activation, often idiopathic (ICPP) in girls, with identifiable causes more common in boys.
  • ICPP has a genetic basis, with associations found in genes like KISS1, KISS1R, MKRN3, and DLK1.

Purpose of the Study:

  • To investigate the genetic and non-genetic factors contributing to idiopathic central precocious puberty (ICPP).
  • To elucidate the roles of specific genes and epigenetic modifications in CPP progression.
  • To understand the correlation between environmental/socioeconomic factors and CPP.

Main Methods:

  • Literature review and analysis of genetic associations.
  • Examination of gene expression and mutations (KISS1, KISS1R, MKRN3, DLK1).
  • Exploration of epigenetic mechanisms (DNA methylation, histone modifications, noncoding RNAs).

Main Results:

  • Identified genetic factors including KISS1, KISS1R, MKRN3, and DLK1 mutations/variations in ICPP.
  • Highlighted potential roles for other genes (GABRA1, LIN28B, NPYR, TAC3, TACR3) requiring further study.
  • Indicated that epigenetic factors mediate gene-environment interactions in CPP.

Conclusions:

  • ICPP pathogenesis involves a complex interplay of genetic predispositions and environmental influences.
  • Epigenetic modifications are crucial mediators in the development of CPP.
  • Understanding these factors is vital due to the adverse health outcomes associated with CPP.