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Open Access Research

Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)

Patricia G Oppelt1, Johannes Lermann1, Reiner Strick1, Ralf Dittrich1, Pamela Strissel1, Ingo Rettig2, Christine Schulze1, Stefan P Renner1, Matthias W Beckmann1, Sara Brucker3, Katharina Rall3 and Andreas Mueller1*

Author Affiliations

1 Department of Obstetrics and Gynecology, Erlangen University Hospital, Universitätsstrasse 21-23, Erlangen, 91054, Germany

2 Department of Internal Medicine IV, Tübingen University Hospital, Otfried-Müller-Straße 10, Tübingen, 72076, Germany

3 Department of Obstetrics and Gynecology, Tübingen University Hospital, Calwerstr. 7, Tübingen, 72076, Germany

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Reproductive Biology and Endocrinology 2012, 10:57  doi:10.1186/1477-7827-10-57

Published: 20 August 2012

Abstract

Background

The aim of this retrospective study was to describe the spectrum of genital and associated malformations in women with Mayer-Rokitansky-Küster-Hauser syndrome using evaluated diagnostic procedures and the Vagina Cervix Uterus Adnex – associated Malformation classification system (VCUAM).

Methods

290 women with MRKH syndrome were clinically evaluated with using clinical examinations, abdominal and perineal/rectal ultrasound, MRI, and laparoscopy.

Results

Classification of female genital malformation according to the Vagina Cervix Uterus Adnex – associated Malformation classification system was possible in 284 women (97.9%). Complete atresia of Vagina (V5b) and bilateral atresia of Cervix (C2b) were found in 284 patients (100%). Uterus: bilateral rudimentary or a plastic uterine horns were found in 239 women (84.2%). Adnexa: normal Adnexa were found in 248 women (87.3%). Malformations: associated malformations were found in 126 of 282 evaluable women (44.7%), 84 women (29.6%) had malformations of the renal system. Of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome 212 women (74.7%) could be classified as V5bC2bU4bA0. The most frequent classification was V5bC2bU4bA0M0 (46.8%) diagnosed in 133 of 284 women.

Conclusions

Complete atresia of vagina and cervix were found in all patients, variable malformations were found with uterus and adnexa. A variety of associated malformations were present, predominantly of the renal system. It is therefore recommended that all patients with genital malformations should be evaluated for renal abnormalities.

Keywords:
MRKH syndrome; Diagnosis; Staging; Malformations; VCUAM; Renal abnormalities