Archives of Gynecology and Obstetrics

, Volume 295, Issue 6, pp 1369–1381 | Cite as

Mullerian dysgenesis: a critical review of the literature

  • Souzana ChousseinEmail author
  • Dimitrios Nasioudis
  • Dimitrios Schizas
  • Konstantinos P. Economopoulos



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.


Mullerian dysgenesis Mayer–Rokitansky–Kuster–Hauser syndrome Uterovaginal agenesis Ingram method McIndoe operation Williams vaginoplasty Vecchietti procedure 




Author contribution

CS: Data collection, data analysis, manuscript writing/editing, and final approval of the manuscript. ND: Data analysis, manuscript writing/editing, and final approval of the manuscript. SD: Data analysis, manuscript writing/editing, and final approval of the manuscript. EK: Protocol/project development, data collection, data analysis, manuscript writing/editing, and final approval of the manuscript.

Compliance with ethical standards

Conflict of interest

All authors declare that they have no conflict of interest.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  1. 1.Surgery Working GroupSociety of Junior DoctorsAthensGreece
  2. 2.Department of Obstetrics, Gynecology and Reproductive Biology, Center for Infertility and Reproductive Surgery, Brigham and Women’s HospitalHarvard Medical SchoolBostonUSA
  3. 3.Department of Obstetrics and GynecologyWeill Cornell MedicineNew YorkUSA
  4. 4.1st Department of Surgery, Laiko General Hospital, School of MedicineNational and Kapodistrian University of AthensAthensGreece
  5. 5.Department of Surgery, Massachusetts General HospitalHarvard Medical SchoolBostonUSA

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