Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH).
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.
Department of Obstetrics and Gynecology, Erlangen University Hospital, Universitätsstrasse 21-23, Erlangen 91054, Germany.
Patricia G
PG
Oppelt
Johannes
J
Lermann
Reiner
R
Strick
Ralf
R
Dittrich
Pamela
P
Strissel
Ingo
I
Rettig
Christine
C
Schulze
Stefan P
SP
Renner
Matthias W
MW
Beckmann
Sara
S
Brucker
Katharina
K
Rall
Andreas
A
Mueller
D058489:46, XX Disorders of Sex Development; D000015:Abnormalities, Multiple / Q000145:classification* / Q000000981:diagnostic imaging / Q000473:pathology; D000293:Adolescent; D000328:Adult; D000013:Congenital Abnormalities; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D009095:Mullerian Ducts / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D012189:Retrospective Studies; D019170:Somites / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D014463:Ultrasonography; D014599:Uterus / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D014621:Vagina / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology