Mayer-Rokitansky-Kuster-Hauser Syndrome

Overview

Type of disease: Rare conditions

Mayer-Rokitansky-KŸster-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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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