Mayer-Rokitansky-Küster-Hauser (MRKH)

Skin | Paediatrics | Mayer-Rokitansky-Küster-Hauser (MRKH) (Disease)


Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus.

Less often, MRKH syndrome is passed through generations in families. Its inheritance pattern is usually unclear because the signs and symptoms of the condition frequently vary among affected individuals in the same family. However, in some families, the condition appears to have an autosomal dominant pattern of inheritance (one copy of the altered gene in each cell is typically sufficient to cause the disorder, although no genes have been associated with MRKH syndrome).

Causes and Risk factors

The cause of MRKH syndrome is unknown, although it probably results from a combination of genetic and environmental factors. Researchers have not identified any genes associated with MRKH syndrome.

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

Diagnosis and Treatment

Although evaluation of patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome can be performed on an outpatient basis, surgical repair requires admission. Medical and surgical care are essential for capacity for sexual intercourse, and genital appearance. In rare cases, fertility may be possible. Using assisted reproductive techniques, women with Mayer-Rokitansky-Kuster-Hauser syndrome can become pregnant by having oocytes harvested, fertilized, and implanted in a surrogate.


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