多囊卵巢综合征病因及其发病机制的研究进展

Research progress in etiology and pathogenesis of polycystic ovary syndrome

摘要

多囊卵巢综合征（PCOS）是一种异质性疾病，与女性生殖内分泌障碍有密切关联。PCOS的病因和发病机制目前尚未明确。PCOS是内分泌代谢紊乱、遗传和环境相互作用的结果。高雄激素血症（HA）和胰岛素抵抗（IR）是PCOS发病的基础病理生理学改变，二者相互作用加重PCOS患者的临床表现。家族聚集性和双胞胎的研究证实PCOS具有遗传倾向，且全基因组关联研究（GWAS）已经确定部分PCOS的风险位点和候选基因。不健康的生活习惯和环境内分泌干扰物在PCOS的进展中也发挥着重要作用，同时肠道菌群也参与PCOS的发病过程。现对近年来PCOS的相关研究进行全面的回顾性分析，从内部因素和外部因素两方面对PCOS病因和发病机制进行综述。

Abstract

Polycystic ovary syndrome (PCOS) is a heterogeneous disorder closely associated with reproductive endocrine dysfunction in the women. The etiology and pathogenesis of PCOS remain unclear. PCOS is the result of the combination of endocrine metabolic disorders, genetics, and environmental factors. Hyperandrogenemia (HA) and insulin resistance (IR) are the fundamental pathophysiological changes in the development of PCOS, and their interactions exacerbate the clinical manifestations of the PCOS patients. The family aggregation and twin study results confirm the genetic predisposition of PCOS; the genome-wide association study (GWAS) results confirm some risk loci and candidate genes of PCOS. The unhealthy lifestyle habits and environmental endocrine disruptors also play an important role in the progression of PCOS, and the gut microbita is involved in the pathogenesis of PCOS. This article provides a comprehensively retrospective analysis on the recent studies about PCOS,and reviews both internal factors and external factors related to the etiology and pathogenesis of PCOS.

关键词

多囊卵巢综合征 / 内分泌代谢异常 / 肠道菌群 / 炎症 / 环境 / 遗传

Key words

Polycystic ovary syndrome / Endocrine metabolic disorder / Gut microbiome / Inflammation / Environment / Genetics

Author summay

葛亚杰（1995－），女，河南省周口市人，在读硕士研究生，主要从事生殖内分泌疾病方面的研究。