title: Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome.
abstract: OBJECTIVE
  The Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is characterized by vaginal and uterine aplasia in a 46,XX individual. Multiple abnormalities may be associated with MRKH syndrome, and it appears to overlap other syndromes. The aim of this study was to describe the spectrum of associated malformations and syndromes as well as abnormal karyotypic findings in a large cohort of 346 patients.
  
  
  METHODS
  The study is a retrospective analysis of 346 MRKH patients treated in the University Hospital in Tuebingen between 1998 and 2013.
  
  
  METHODS
  The dataset was screened for typical associated malformations as well as atypical malformations and abnormal karyotypes. A complete review of the literature was included.
  
  
  RESULTS
  Among our cohort of 346 patients, we found that 53.2% had MRKH type 1, 41.3% had MRKH type 2, and 5.5% had MURCS syndrome. The group with associated malformations included 57.6% renal, 44.4% skeletal, and 30.8% other malformations. Additionally, we found 2 cases of absent radius syndrome, 3 cases of anal atresia, and 1 patient with oculodentodigital dysplasia, and other atypical malformations. Abnormal karyotypes were found in 5 cases, and 39 siblings and 11 parents had known malformations.
  
  
  CONCLUSIONS
  This study supports the hypothesis that the syndrome has a multifactorial pathogenesis. With the high numbers of associated malformations reported in this study, patients with MRKH syndrome should be regarded as having a complex syndrome. Molecular-genetic analyses in larger numbers of children after surrogacy, twin pregnancies, and familial cases may make it possible to obtain further information about the etiology of the syndrome.
authors.affiliation: University Hospital Tuebingen, Department of Obstetrics and Gynecology, Tuebingen, Germany. Electronic address: Katharina.Rall@med.uni-tuebingen.de.
authors.forename: Katharina
authors.initials: K
authors.lastname: Rall
authors.affiliation: University Hospital Tuebingen, Department of Obstetrics and Gynecology, Tuebingen, Germany.
authors.forename: Simone
authors.initials: S
authors.lastname: Eisenbeis
authors.affiliation: University Hospital Tuebingen, Department of Obstetrics and Gynecology, Tuebingen, Germany.
authors.forename: Verena
authors.initials: V
authors.lastname: Henninger
authors.affiliation: University Hospital Tuebingen, Department of Obstetrics and Gynecology, Tuebingen, Germany.
authors.forename: Melanie
authors.initials: M
authors.lastname: Henes
authors.affiliation: University Hospital Tuebingen, Department of Obstetrics and Gynecology, Tuebingen, Germany.
authors.forename: Diethelm
authors.initials: D
authors.lastname: Wallwiener
authors.affiliation: University Hospital Tuebingen, Department of Medical Genetics, Microarray Facility, Tuebingen, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Bonin
authors.affiliation: University Hospital Tuebingen, Department of Obstetrics and Gynecology, Tuebingen, Germany.
authors.forename: Sara
authors.initials: S
authors.lastname: Brucker
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000175:diagnosis*; D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002648:Child; D000013:Congenital Abnormalities / Q000175:diagnosis*; D005260:Female; D005858:Germany; D006801:Humans; D059785:Karyotype; D007668:Kidney / Q000002:abnormalities; D009095:Mullerian Ducts / Q000002:abnormalities*; D012189:Retrospective Studies; D035781:Siblings; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities; D055815:Young Adult
keywords: Abnormal karyotype; Associated malformations; Associated syndromes; DiGeorge syndrome; Klippel-Feil syndrome; MRKH syndrome; Uterovaginal aplasia; VACTERL association