Mullerian dysgenesis: a critical review of the literature.

Journal Article (Review;Journal Article)


To present an update of the genetic, clinical, diagnostic, and therapeutic aspects of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.


Studies were considered eligible if they have evaluated patients with MRKH syndrome. Eligible articles were identified by a search of MEDLINE bibliographical database from 1950 to August 2016. A purely descriptive approach was adopted concerning all outcomes examined by the individual studies.


MRKH syndrome is defined as congenital aplasia of the upper vagina and impairment of uterine development in normal 46XX females. Accounting for 1:4500 women, MRKH is the second most common cause of primary amenorrhea following gonadal dysgenesis. Potential association of MRKH syndrome to specific genes has been the focus of recent research. Null-association results of HOXA genes and Wnt5a, Wnt7a, and Wnt9a have been reported, while point mutations of the WNT4 gene point mutations have been associated with an MRKH-like syndrome characterized by Mullerian duct regression and hyperandrogenism. Ultrasound and Magnetic Resonance Imaging (MRI) are the main techniques to establish an accurate diagnosis of the syndrome. Several non-surgical and surgical procedures have been reported for the creation of a functional neovagina; in general, non-surgical treatment should be the first initially pursued. Along with psychological support, recent developments in assisted reproductive technologies of IVF techniques and the availability of gestational surrogacy, as well as the recent breakthrough of successful uterus transplantation, enable women with MRKH syndrome to attain their own genetic child.


MRKH syndrome is a medical modality with important social, legal, and ethical projections that require a multi-disciplinary approach.

Full Text

Duke Authors

Cited Authors

  • Choussein, S; Nasioudis, D; Schizas, D; Economopoulos, KP

Published Date

  • June 2017

Published In

Volume / Issue

  • 295 / 6

Start / End Page

  • 1369 - 1381

PubMed ID

  • 28434104

Electronic International Standard Serial Number (EISSN)

  • 1432-0711

International Standard Serial Number (ISSN)

  • 0932-0067

Digital Object Identifier (DOI)

  • 10.1007/s00404-017-4372-2


  • eng