Mayer-Rokitansky-Küster-Hauser综合征患者子代再现风险的研究进展

Recurrence risk of offspring in patients with Mayer-Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser综合征(MRKH综合征)是一种罕见先天性女性生殖道发育缺陷疾病,发病率大约为(1∶5000)~(1∶4500)。近年来,大量临床研究证明MRKH综合征可能为性别依赖常染色体显性遗传疾病,其发病机制与染色体微重复/微缺失(1q21.1、16q11.2、17q12、22q11.21)和候选基因(HOX、PAX8、GREB1L和WNT4)有关,但目前关于MRKH综合征子代再发情况尚不清楚。本文查阅MRKH综合征相关文献,总结了MRKH综合征子代再发情况,以期为MRKH综合征患者的子代再现风险提供参考。

Mayer-Rokitansky-Küster-Hauser syndrome(MRKH syndrome)is a rare congenital disease of female reproductive tract development defects.The incidence rate is 1∶5000-1∶4500.In recent years,a large number of clinical studies have proved that MRKH syndrome may be a sex dependent autosomal dominant genetic disease,and its pathogenesis is related to chromosome microduplication/microdeletion(1q21.1,16q11.2,17q12,22q11.21)and candidate genes(HOX,PAX8,GREB1L and WNT4).However,the recurrence of MRKH syndrome in offspring is still unclear.This article reviewed the literature related to MRKH syndrome and summarized the situation of offspring of MRKH syndrome,with a view to providing reference for the risk of offspring of patients with MRKH syndrome.