Higher incidence of linked malformations in siblings of Mayer-Rokitansky-Kuster-Hauser-syndrome patients
Author(s) -
M. Wottgen,
SY Brucker,
Stefan P. Renner,
Pamela L. Strissel,
Reiner Strick,
Anja Kellermann,
D. Wallwiener,
Matthias W. Beckmann,
Patricia G. Oppelt
Publication year - 2008
Publication title -
human reproduction
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.446
H-Index - 226
eISSN - 1460-2350
pISSN - 0268-1161
DOI - 10.1093/humrep/den059
Subject(s) - etiology , medicine , genitourinary system , incidence (geometry) , mayer rokitansky kuster hauser syndrome , sex organ , population , gynecology , pediatrics , obstetrics , uterus , pathology , biology , physics , environmental health , optics , genetics
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.
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