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

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.