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Hum. Reprod. Advance Access originally published online on March 5, 2008
Human Reproduction 2008 23(5):1226-1231; doi:10.1093/humrep/den059
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© The Author 2008. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Higher incidence of linked malformations in siblings of Mayer–Rokitansky–Küster–Hauser-syndrome patients

M. Wottgen1, S. Brucker2, S.P. Renner1, P.L. Strissel1, R. Strick1, A. Kellermann1, D. Wallwiener2, M.W. Beckmann1 and P. Oppelt1,3

1 Department of Gynecology, Erlangen University Hospital, Universitätsstrasse 21–23, D-91054 Erlangen, Germany 2 Department of Gynecology, Tübingen University Hospital, Tübingen, Germany

3 Correspondence address. Tel: +49-9131-85-33553; Fax: +49-9131-85-36185; E-mail: peter.oppelt{at}uk-erlangen.de

BACKGROUND: Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a malformation of the female genital tract (vaginal aplasia, rudimentary uterus, normal fallopian tubes and high ovaries). The incidence is one in 4000 female newborns. The aim of the present study was to record genital and associated malformations among siblings and relatives of MRKH patients in order to draw possible conclusions regarding the etiology of the syndrome: heredity (dominant versus recessive) or spontaneous malformation.

METHODS: Using a standardized questionnaire, affected MRKH patients were asked about other cases of MRKH and/or associated malformations among siblings and relatives.

RESULTS: No other cases of MRKH syndrome had occurred among the siblings or relatives of 73 MRKH patients; however, 13 associated malformations were recorded among a total of 103 siblings. Musculoskeletal malformations were markedly increased (3.27 times higher) in comparison with the prevalence of congenital malformations among newborns in the normal population.

CONCLUSIONS: This study shows that dominant inheritance cannot play a role in the etiology of MRKH syndrome, as no further cases of MRKH syndrome occurred among any of the siblings. The study provides support for the view that the syndrome has a multifactorial pathogenesis. Siblings/relatives of MRKH patients should be examined for associated musculoskeletal/urogenital malformations.

Key words: MRKH syndrome/VCUAM classification/genital malformation/hereditary transmission

Submitted on November 11, 2007; resubmitted on February 4, 2008; accepted on February 7, 2008.


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