Medical Definition of Mayer-Rokitansky-Kuster-Hauser syndrome

Reviewed on 6/3/2021

Mayer-Rokitansky-Kuster-Hauser syndrome: Also known as MRKH syndrome, a genetic (inherited) condition that results in underdevelopment or absence of the uterus and vagina in females. Since there is no uterus, menstrual bleeding does not occur at puberty, and this may be the first sign of the condition. MRKH syndrome can also be associated with abnormalities of other body parts such as the kidneys and bones. It occurs in about one out of every 4,500 newborn girls. It is not known which genes are affected in MRKH syndrome, and most cases occur in girls without a family history of the condition. Less commonly, the condition runs in families. Other names for the syndrome include congenital absence of the uterus and vagina (CAUV), genital renal ear syndrome (GRES), Mullerian aplasia, and Mullerian dysgenesis.

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References
Genetic Home Reference. Mayer-Rokitansky-Kuster-Hauser Syndrome.