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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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
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Symptoms

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What are the signs and symptoms of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. This is often the first noticeable sign of the condition. Women with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal female external genitalia and normal breast and pubic hair development.[1]

Some women with MRKH syndrome have abnormalities in other parts of the body. The kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals may also develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome may also have hearing loss or heart defects.[1]

Last updated: 6/14/2011

References
  1. Mayer-Rokitansky-Küster-Hauser syndrome. Genetics Home Reference (GHR). May 2010; http://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome. Accessed 6/13/2011.


Other Names for this Disease
  • CAUV
  • Congenital absence of the uterus and vagina
  • Genital renal ear syndrome
  • GRES syndrome
  • Mayer Rokitansky Kuster Hauser syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.