Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Reproductive Endocrinology and Regulation Laboratory, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
J Clin Endocrinol Metab. 2022 Jan 1;107(1):273-295. doi: 10.1210/clinem/dgab640.
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.
To explore the reproductive health in FDRs of patients with PCOS.
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.
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.
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.
多囊卵巢综合征（PCOS）是一种高度遗传性疾病。新出现的证据表明，PCOS 患者一级亲属（FDRs）的生殖异常患病率升高。
探讨 PCOS 患者 FDRs 的生殖健康状况。
2020 年 12 月检索了 10 个数据库（PubMed、Embase、Web of Science、Cochrane 中央对照试验注册中心、ClinicalTrials.gov、中国生物医学文献数据库、中国国家知识基础设施、中国期刊全文数据库、万方和世界卫生组织国际临床试验注册平台）。本研究纳入了队列研究、病例对照研究或横断面研究。研究遵循系统评价和荟萃分析的首选报告项目。通过 Mantel-Haenszel 模型合并每项合格研究的二分类数据。采用标准均数差（95%CI）进行评估。采用 I2 统计量评估异质性，并采用美国医疗保健研究与质量机构证据实践中心方案和推荐评估、发展与评价方法对证据质量进行评估。
纳入 38 项研究。PCOS（0.22；95%CI，0.16 至 0.29）、月经不规律（0.28；95%CI，0.22 至 0.34，P<0.01）和卵巢形态改变在女性 PCOS FDR 中发生率较高。女性 FDRs 的黄体生成素、总睾酮（标准均数差，0.53；95%CI，0.28 至 0.78，P<0.01）、非结合睾酮、游离雄激素指数、硫酸脱氢表雄酮（DHEAS）和抗苗勒管激素水平也升高。亚组分析表明，这些变化中的一些始于青春期女孩。此外，PCOS 患者的父亲有更高的早秃风险。男性 FDRs 的 DHEAS 水平升高。
本分析结果表明，PCOS 患者的 FDRs 存在生殖内分泌失调。因此，应更加关注这一人群。
