Mayer–Rokitansky–Kuster–Hauser syndrome: complications, diagnosis and possible treatment options: a review

Abstract

Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome is a disorder in women that presents as Mullerian agenesis. These patients present internal genitalia abnormalities that include the absence of a uterus and the upper two-thirds of the vagina. In this review, current diagnostic methods, accompanying complications (congenital and psychological) and non-surgical and surgical treatments are summarized. Ultrasound and MRI have been the most documented options in MRKH syndrome diagnosis. Many women with MRKH syndrome have renal, skeletal, hearing or cardiac congenital anomalies and increased levels of psychological distress. Non-surgical interventions can be used to create a sexually functional neovagina through vaginal dilation, and surgical interventions provide alternate methods of creating a neovagina. Additionally, vaginal tissue engineering and gene therapy might provide more effective approaches in solving MRKH syndrome.

Chinese abstract

苗勒管发育不全综合征（MRKH）是发生在女性的一种疾病，表现为苗勒管发育不全。这些患者表现为内生殖器异常，包括子宫及阴道上2/3部分缺失。在该篇综述中我们总结了MRKH综合征目前的诊断方法、伴随的并发症（先天及心理）、手术及非手术治疗方法。超声和MRI已成为MRKH综合征诊断最主要的手段。许多患MRKH综合征的女性常伴肾、骨骼、听力或先天性心脏异常及心理疾病的增加。非手术介入方式可通过扩张阴道而用来创建具有性功能的阴道，而外科手术则提供了阴道重建的另一种方法。此外，阴道组织工程和基因治疗可能会提供更有效的方法来解决MRKH综合征。

• Creatsas method
• Frank’s method
• Mayer–Rokitansky–Kuster–Hauser syndrome
• Mullerian agenesis
• neovagina
• tissue engineering
• vaginal dilation
• Vecchietti procedure

Acknowledgements

Kelly A. Keating (Pharmaceutical Research Institute at ACPHS) edited the manuscript for organization and English language.