Herlin Morten, Petersen Michael Bjørn
Ugeskr Laeger. 2017 Mar 27;179(13).
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by uterovaginal agenesis in females with normal secondary sex characteristics and normal karyotype (46,XX). The prevalence of MRKH syndrome is one in 5,000 live female births as recently confirmed by a nationwide population-based study in Denmark. This review kaleidoscopically summarizes the current knowledge of the history, genetics, diagnostics, treatment of vaginal agenesis, psychosexual aspects, and fertility options in MRKH syndrome.
梅耶-罗基坦斯基-库斯特-豪泽（MRKH）综合征是一种先天性异常，其特征为女性子宫阴道发育不全，而第二性征正常且染色体核型正常（46,XX）。丹麦一项基于全国人口的研究最近证实，MRKH综合征在活产女婴中的患病率为五千分之一。这篇综述从多方面总结了目前关于MRKH综合征的病史、遗传学、诊断、阴道发育不全的治疗、性心理方面以及生育选择的知识。
