title: Higher incidence of linked malformations in siblings of Mayer-Rokitansky-Küster-Hauser-syndrome patients.
abstract: 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.
authors.affiliation: Department of Gynecology, Erlangen University Hospital, Universitätsstrasse 21-23, D-91054 Erlangen, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Wottgen
authors.forename: S
authors.initials: S
authors.lastname: Brucker
authors.forename: S P
authors.initials: SP
authors.lastname: Renner
authors.forename: P L
authors.initials: PL
authors.lastname: Strissel
authors.forename: R
authors.initials: R
authors.lastname: Strick
authors.forename: A
authors.initials: A
authors.lastname: Kellermann
authors.forename: D
authors.initials: D
authors.lastname: Wallwiener
authors.forename: M W
authors.initials: MW
authors.lastname: Beckmann
authors.forename: P
authors.initials: P
authors.lastname: Oppelt
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics; D000293:Adolescent; D000328:Adult; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D005858:Germany / Q000453:epidemiology; D006330:Heart Defects, Congenital / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009139:Musculoskeletal Abnormalities / Q000453:epidemiology; D035781:Siblings; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000453:epidemiology; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*