Dumesic Daniel A, Oberfield Sharon E, Stener-Victorin Elisabet, Marshall John C, Laven Joop S, Legro Richard S
Department of Obstetrics and Gynecology (D.A.D.), David Geffen School of Medicine at UCLA, Los Angeles, California 90095; Division of Pediatric Endocrinology (S.E.O.), Children's Hospital of New York-Presbyterian, Columbia University College of Physicians and Surgeons, New York, New York 10032; Department of Physiology (E.S.-V.), Karolinska Institutet, 171 77 Stockholm, Sweden; Center for Research in Reproduction and Division of Endocrinology (J.C.M.), Department of Internal Medicine, University of Virginia Health System, Charlottesville, Virginia 22903; Division of Reproductive Medicine (J.S.L.), Department of Obstetrics and Gynecology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands; and Department of Obstetrics and Gynecology (R.S.L.), Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033.
Endocr Rev. 2015 Oct;36(5):487-525. doi: 10.1210/er.2015-1018.
Polycystic ovary syndrome (PCOS) is a heterogeneous and complex disorder that has both adverse reproductive and metabolic implications for affected women. However, there is generally poor understanding of its etiology. Varying expert-based diagnostic criteria utilize some combination of oligo-ovulation, hyperandrogenism, and the presence of polycystic ovaries. Criteria that require hyperandrogenism tend to identify a more severe reproductive and metabolic phenotype. The phenotype can vary by race and ethnicity, is difficult to define in the perimenarchal and perimenopausal period, and is exacerbated by obesity. The pathophysiology involves abnormal gonadotropin secretion from a reduced hypothalamic feedback response to circulating sex steroids, altered ovarian morphology and functional changes, and disordered insulin action in a variety of target tissues. PCOS clusters in families and both female and male relatives can show stigmata of the syndrome, including metabolic abnormalities. Genome-wide association studies have identified a number of candidate regions, although their role in contributing to PCOS is still largely unknown.
多囊卵巢综合征（PCOS）是一种异质性的复杂疾病，对受影响的女性具有不良的生殖和代谢影响。然而，人们对其病因的了解普遍不足。基于专家的不同诊断标准采用了排卵少、高雄激素血症和多囊卵巢存在等一些组合。需要高雄激素血症的标准往往能识别出更严重的生殖和代谢表型。该表型会因种族和民族而有所不同，在月经初潮前后和围绝经期难以界定，且会因肥胖而加重。其病理生理学涉及下丘脑对循环性激素反馈反应降低导致促性腺激素分泌异常、卵巢形态改变和功能变化，以及多种靶组织中胰岛素作用紊乱。PCOS在家族中呈聚集性，女性和男性亲属都可能出现该综合征的特征，包括代谢异常。全基因组关联研究已经确定了一些候选区域，尽管它们在PCOS发病中的作用仍大多未知。
