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May 14, 2026BMC Pregnancy and ChildbirthOpen Access

Performance of exome sequencing in premature ovarian insufficiency: a systematic review and meta-analysis

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Authors

FZF X ZhouJZJingwei ZhangYLYaqian Li

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Overview

Systematic review shows significant genetic causes in premature ovarian insufficiency, indicating further exploration is needed.

Key Points

  • The aim is to assess the prevalence of pathogenic genetic variants in premature ovarian insufficiency using exome sequencing.
  • Systematic review of studies from various databases until May 2024.
  • Meta-analysis of proportions using a random-effects model.
  • Quality assessment of studies using modified STARD criteria.
  • Overall positive rate of monogenic pathogenic/likely pathogenic variants in exome sequencing was 31% (95% CI 18–44%).
  • Yield in spontaneous POI with primary amenorrhoea was 38% (95% CI 21%–54%).
  • Overall diagnostic yield of exome sequencing in POI cases was 21% (95% CI 12–31%).

Cite This Study

Zhou et al. (2026) studied this question.

synapsesocial.com/papers/6a0567a8a550a87e60a1fd17https://doi.org/10.1186/s12884-026-09242-7
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