Polycystic ovary syndrome (PCOS) is the most common female endocrine disorder and has important evolutionary implications for female reproduction and health. PCOS presents an interesting paradox, as it results in significant anovulation and potential sub-fecundity in industrialized populations, yet it has a surprisingly high prevalence and has a high heritability. In this review, we discuss an overview of PCOS, current diagnostic criteria, associated hormonal pathways and a review of proposed evolutionary hypotheses for the disorder. With a multifactorial etiology that includes ovarian function, metabolism, insulin signaling and multiple genetic risk alleles, PCOS is a complex disorder. We propose that PCOS is a mismatch between previously neutral genetic variants that evolved in physically active subsistence settings that have the potential to become harmful in sedentary industrialized environments. Sedentary obesogenic environments did not exist in ancestral times and exacerbate many of these pathways, resulting in the high prevalence and severity of PCOS today. Overall, the negative impacts of PCOS on reproductive success would likely have been minimal during most of human evolution and unlikely to generate strong selection. Future research and preventative measures should focus on these gene-environment interactions as a form of evolutionary mismatch, particularly in populations that are disproportionately affected by obesity and metabolic disorders. LAY SUMMARY The most severe form of polycystic ovary syndrome (PCOS) is likely a result of interactions between genetic predispositions for PCOS and modern obesogenic environments. PCOS would likely have been less severe ancestrally and the fitness reducing effects of PCOS seen today are likely a novel product of sedentary, urban environments.

中文翻译：

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多囊卵巢综合征的进化起源：一种环境失配障碍。


多囊卵巢综合征（PCOS）是最常见的女性内分泌疾病，对女性生殖和健康具有重要的进化意义。 PCOS 呈现出一个有趣的悖论，因为它会导致工业化人群中显着的无排卵和潜在的生育力低下，但它的患病率却高得惊人，并且具有很高的遗传力。在这篇综述中，我们讨论了多囊卵巢综合症的概述、当前的诊断标准、相关的激素途径以及对该疾病提出的进化假设的回顾。 PCOS 是一种复杂的疾病，其病因包括卵巢功能、新陈代谢、胰岛素信号传导和多种遗传风险等位基因。我们认为，多囊卵巢综合症是以前中性基因变异之间的不匹配，这些基因变异是在体力活动的生存环境中进化出来的，这些变异有可能在久坐的工业化环境中变得有害。久坐的肥胖环境在远古时代并不存在，并且加剧了其中许多途径，导致今天多囊卵巢综合症的高患病率和严重程度。总体而言，在人类进化的大部分时间里，多囊卵巢综合症对生殖成功的负面影响可能很小，并且不太可能产生强烈的选择。未来的研究和预防措施应重点关注这些基因与环境的相互作用，将其视为一种进化失配的形式，特别是在受肥胖和代谢紊乱影响尤为严重的人群中。简单总结 最严重的多囊卵巢综合征 (PCOS) 可能是 PCOS 遗传倾向与现代肥胖环境之间相互作用的结果。 多囊卵巢综合症在古代可能没有那么严重，而今天看到的多囊卵巢综合症对健康的影响可能是久坐的城市环境的新产物。