国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2015, Vol. 34 ›› Issue (1): 83-86.

• 综述 • 上一篇    

多囊卵巢综合征遗传学机制的研究进展

许媛媛，李佳蕊   

  1. 200092 上海交通大学医学院附属新华医院妇科
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2015-01-15 发布日期:2015-01-15

Research Progress on Genetics of Polycystic Ovary Syndrome

XU Yuan-yuan，LI Jia-rui   

  1. Department of Gynecology，Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine，Shanghai 200092，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2015-01-15 Online:2015-01-15

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摘要： 作为常见且复杂的育龄期女性生殖内分泌疾病，多囊卵巢综合征（PCOS）以持续性无排卵、高雄激素血症和（或）卵巢多囊性改变为主要临床特征，而其发病机制至今尚不明晰。PCOS家庭聚集现象提示其发病的遗传学背景，促进了PCOS相关致病基因的分子流行病学研究。越来越多的PCOS相关基因被发现，但该疾病基因型与表现型存在异质性，且缺乏大样本的研究，目前尚不能明确某一基因与PCOS之间的确切关系。介绍与PCOS发病相关的某些基因（胰岛素相关、雄激素相关、促性腺激素相关、其他卵巢功能相关、脂肪组织相关等）及其最新进展。

关键词: 多囊卵巢综合征, 遗传学, 基因

Abstract: As a common and complex endocrine disorder in women of reproductive age, polycystic ovary syndrome (PCOS) is characterized by chronic anovulation, hyperandrogenaemia and polycystic ovaries. The pathogenesis of PCOS is still unclear. The clinical characteristics of familial aggregation suggest its genetic background, which promoted much molecular epidemiological study on finding candidate genes. Although more and more genes have been found to be related with the etiology of PCOS, there is not a gene which is predicatively related to PCOS pathogenesis at present because of duple heterogeneities of genotype and phenotypy, as well as the lack of large sample research. The article discussed the research progresses on the genetic mechanism of PCOS from several closely related genes, such as those genes related to insulin, androgen, gonadotropin, other ovary functions and adipose tissue.

Key words: Polycystic ovary syndrome, Genetics, Genes