多囊卵巢综合征遗传学病因研究进展

Genetic Etiology Research Progress of Polycystic Ovary Syndrome

多囊卵巢综合征(Polycystic ovary syndrome,PCOS)是育龄期妇女常见的生殖内分泌紊乱性疾病,其临床表现高度异质性,主要内分泌特征为高雄激素血症、高胰岛素血症。目前,PCOS的发病机制尚不清楚,PCOS患者的高度家族聚集性提示遗传因素在发病中起重要作用,然而尚不能明确某一基因与PCOS的关系,该文就近几年PCOS遗传学研究进展进行综述。

Polycystic ovary syndrome（PCOS）is one of the reproductive endocrine disorders which usually affects those women who are in the reproductive age. The clincal manifest-ations of PCOS,main endocrine characteristics include hyperand-rogenism,hyperinsulinemia,is highly heterogeneous. The aetiopathogenesis of this disease is not well known currently,highly familial aggregation phenomenon suggests genetic factors play an important role in the pathogenesis of PCOS,however,there is not a clear relationship between a gene with PCOS. In this review,we discussed the progress of the genetic analysis of PCOS.