Reproductive Health in First-degree Relatives of Patients With Polycystic Ovary Syndrome: A Review and Meta-analysis

J Clin Endocrinol Metab. 2022 Jan 1;107(1):273-295. doi: 10.1210/clinem/dgab640.

Abstract

Context: Polycystic ovary syndrome (PCOS) is a highly heritable disease. Emerging evidence elucidated the elevated prevalence of reproductive abnormalities in first-degree relatives (FDRs) of patients with PCOS.

Objective: To explore the reproductive health in FDRs of patients with PCOS.

Methods: Ten databases were searched in December 2020 (PubMed, Embase, Web of Science, Cochrane Central Register of Controlled Trials, ClinicalTrials.gov, Chinese Biological Medical Literature, Chinese National Knowledge Infrastructure, Chinese Journals Full-text Database, WanFang, and World Health Organization international clinical trials registry platform). This study included cohort, case-control, or cross-sectional studies. The Preferred Reporting Items for Systematic Reviews and Meta-Analysis statement was followed. Dichotomous data from each of the eligible studies were combined by the Mantel-Haenszel model. Standard mean differences with 95% CIs were assessed. Heterogeneities were assessed using I2 statistics, and the quality of evidence was evaluated by a US Agency for Healthcare Research and Quality Evidence-based Practice Center program and Grading of Recommendations, Assessment, Development and Evaluation approach.

Results: Thirty-eight studies were included. The prevalence of PCOS (0.22; 95% CI, 0.16 to 0.29), menstrual irregularities (0.28; 95% CI, 0.22 to 0.34, P < .01), and ovary morphological changes were elevated in female PCOS FDRs. Female FDRs also presented with increased levels of luteinizing hormone, total testosterone (standard mean difference, 0.53; 95% CI, 0.28 to 0.78, P < .01), unconjugated testosterone, free androgen index, dehydroepiandrosterone sulfate (DHEAS), and antimüllerian hormone levels. Subgroup analyses indicated that some of these changes begun in pubertal girls. Furthermore, fathers of PCOS patients had a higher risk of premature baldness. The DHEAS level was elevated in male FDRs.

Conclusion: The findings of this analysis suggested that FDRs of patients with PCOS suffered from reproductive endocrinological dysregulations. Thus, more attention should be focused on this population.

Keywords: family; meta-analysis; polycystic ovary syndrome; reproductive health.

Publication types

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

MeSH terms

  • Anti-Mullerian Hormone / blood
  • Anti-Mullerian Hormone / metabolism
  • Family*
  • Female
  • Humans
  • Insulin Resistance
  • Luteinizing Hormone / blood
  • Luteinizing Hormone / metabolism
  • Polycystic Ovary Syndrome / blood
  • Polycystic Ovary Syndrome / diagnosis*
  • Polycystic Ovary Syndrome / metabolism
  • Prevalence
  • Reproductive Health / statistics & numerical data*
  • Severity of Illness Index
  • Testosterone / blood
  • Testosterone / metabolism

Substances

  • Testosterone
  • Anti-Mullerian Hormone
  • Luteinizing Hormone