先天性无阴道综合征病因学研究现状

Mayer-Rokitansky-Küster-Hauser: Recent Etiologic Findings

先天性无阴道综合征(Mayer-Rokitansky-Küster-Hauser,MRKH综合征)是一种主要表现为子宫和阴道上段缺失的先天性女性生殖道畸形,人们通过研究表明此病可能有家族聚集性,并通过候选基因法、全基因组扫描法和表观遗传学研究,筛选出了一些环境中致生殖系统发育异常的物质和基因及表观遗传学改变。但多数候选基因缺乏在不同种族人群大样本病例中验证的证据;全基因组扫描和表观遗传学研究在寻找MRKH综合征相关基因中的应用还处于初级阶段,迄今MRKH综合征的病因尚不明确。

Mayer-Rokitansky-Kuster-Hauser （MRKH） syndrome is a congenital malformation of the female genital tract, characterized by absence of the uterus and the upper part of the vagina. Even though its etiology is unclear, we have a better understanding of the pathogenesis based on a lot of studies. This article reviewed the research progress on environmental and genetic aspects （including familial aggregation tendency, candidate gene study, genome wide association study and epigenetic association study） associated with MRKH syndrome.