Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging.
BACKGROUND
The Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is a malformation of the female genitals (occurring in one in 4000 female live births) as a result of interrupted embryonic development of the Müllerian (paramesonephric) ducts. This retrospective study examined the issue of associated malformations, subtyping, and the frequency distribution of subtypes in MRKH syndrome.


METHODS
Fifty-three MRKH patients were investigated using a newly developed standardized questionnaire. Together with the results of clinical and diagnostic examinations, the patients were classified into the three recognized subtypes [typical, atypical and MURCS (Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia)].


RESULTS
The typical form was diagnosed in 25 patients (47%), the atypical form in 11 patients (21%), and the most marked form-the MURCS type-in 17 patients (32%). Associated malformations were notably frequent among the patients. Malformations of the renal system were the most frequent type of accompanying malformation, with 23 different malformations in 19 patients, followed by 18 different skeletal changes in 15 patients.


CONCLUSIONS
In accordance with the literature, this study shows that associated malformations are present in more than a third of cases. Therefore, new basic guidelines for standard diagnostic classification involving patients with suspected MRKH are presented.
Oppelt
Peter
P
Department of Gynecology and Obstetrics, University Hospital, Universitätsstrasse 21-23, D-91054 Erlangen, Germany. Peter.Oppelt@gyn.imed.uni-erlangen.de
Renner
Stefan P
SP
Kellermann
Anja
A
Brucker
Sara
S
Hauser
Georges A
GA
Ludwig
Kurt S
KS
Strissel
Pamela L
PL
Strick
Reiner
R
Wallwiener
Diethelm
D
Beckmann
Matthias W
MW
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D047108:Embryonic Development; D005060:Europe; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D009095:Mullerian Ducts / Q000002:abnormalities / Q000196:embryology; D010053:Ovary / Q000002:abnormalities; D011795:Surveys and Questionnaires; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities