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Mayer-Rokitansky-Kuster-Hauser syndrome

Other Names for this Disease
  • CAUV
  • Congenital absence of the uterus and vagina
  • Genital renal ear syndrome
  • GRES syndrome
  • Mayer Rokitansky Kuster Hauser syndrome
More Names
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What causes Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?

The cause of MRKH syndrome is unknown. It likely results from a combination of genetic and environmental factors. Researchers have not yet identified any genes associated with MRKH syndrome.[1]

The reproductive abnormalities of MRKH syndrome are due to incomplete development of the Müllerian duct. This structure in the embryo develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. The cause of the abnormal development of the Müllerian duct in affected individuals in unknown. Originally, researchers believed that MRKH syndrome was caused by something the fetus was exposed to during pregnancy, such as a medication or maternal illness. However, studies have not identified an association with maternal drug use, illness, or other factors. It is also unclear why some affected individuals have abnormalities in parts of the body other than the reproductive system.[1]

Last updated: 6/14/2011

  1. Mayer-Rokitansky-Küster-Hauser syndrome. Genetics Home Reference (GHR). May 2010; Accessed 6/13/2011.