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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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Overview



What is Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?

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

What causes Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?


What is Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that mainly affects the female reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Ovaries are usually present and functional. Additional features may include kidney and/or skeletal abnormalities. While the cause of MRKH syndrome is unknown, it likely results from a combination of genetic and environmental factors. Most cases occur in women with no history of the disorder in their family. Less often, the condition is passed through generations in a family. Some of these cases appear to be inherited in an autosomal dominant fashion. Although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction.[1]
Last updated: 6/14/2011

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

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

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.