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, although external genitalia are normal. Affected individuals usually do not have menstrual periods due to the absence of a uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea). People with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal breast and pubic hair development. Although people with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction.

The cause of MRKH syndrome is unknown. Changes in several genes that are involved in development before birth have been identified in people with MRKH syndrome. However, each has been found in only a few affected individuals, and it is unclear whether these changes cause MRKH syndrome. Researchers are working to determine how genetic changes might lead to problems with development of the female reproductive system.

MRKH syndrome affects approximately 1 in 4,500 female newborns.

Most cases of MRKH syndrome occur in people with no history of the disorder in their family.

Published Date: June 23, 2022
Published By: National Institutes of Health