Mayer-Rokitansky-Küster-Hauser anomaly and its associated malformations

Siobhán T. Pittock, Dusica Babovic-Vuksanovic, Aida Lteif

Research output: Contribution to journalReview articlepeer-review

101 Scopus citations


Mayer-Rokitansky-Küster Hauser (MRKHA) is a malformation complex comprising absent vagina and absent or rudimentary uterus. The aim of our study was to describe the type and frequency of anomalies associated with the MRKHA. Between 1975 and 2002, 25 patients with a diagnosis of MRKHA were identified at the Mayo Clinic. These charts were reviewed retrospectively. Two of the 25 patients were found to have absence of one ovary and two patients had unilateral oophorectomies performed for benign cysts. Four patients had minor anomalies and two had digital anomalies. The frequency of scoliosis (20%), unilateral renal agenesis (28%), non-vertebral skeletal anomalies (16%) and of the MURCS association (Müllerian agenesis, renal agenesis/ectopia and cervical somite dysgenesis), 16%, was similar compared to that of other published studies. Vertebral abnormalities were found more frequently in our patients (44%). Four patients had cardiac defects, an anomaly not previously described, including truncus arteriosus, patent ductus arteriosus and patent foramen ovale, mitral valve prolapse, and mild mitral regurgitation. We document cardiac anomalies in 16% of our patients with MRKHA suggesting that a search for associated anomalies including cardiac defects is indicated in all such patients.

Original languageEnglish (US)
Pages (from-to)314-316
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume135 A
Issue number3
StatePublished - Jun 15 2005


  • Amenorrhea
  • Cardiac defects
  • Congenital anomalies
  • Müllerian agenesis
  • Vaginal agenesis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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