Molecular Genetics of Premature Ovarian Insufficiency

Trends Endocrinol Metab. 2018 Nov;29(11):795-807. doi: 10.1016/j.tem.2018.07.002. Epub 2018 Aug 2.


Premature ovarian insufficiency (POI) is highly heterogeneous in genetic etiology. Yet identifying causative genes has been challenging with candidate gene approaches. Recent approaches using next generation sequencing (NGS), especially whole exome sequencing (WES), in large POI pedigrees have identified new causatives and proposed relevant candidates, mainly enriched in DNA damage repair, homologous recombination, and meiosis. In the near future, NGS or whole genome sequencing will help better define genes involved in intricate regulatory networks. The research into miRNA and age at menopause represents an emerging field that will help unveil the molecular mechanisms underlying pathogenesis of POI. Shedding light on the genetic architecture is important in interpreting pathogenesis of POI, and will facilitate risk prediction for POI.

Keywords: Premature ovarian insufficiency (POI); candidate gene; menopause; miRNA; next generation sequencing (NGS); whole exome sequencing (WES).

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Exome Sequencing*
  • Female
  • Genome-Wide Association Study*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Menopause / genetics*
  • MicroRNAs / genetics*
  • Primary Ovarian Insufficiency / genetics*


  • MicroRNAs