MRKH syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital (present at birth) disorder that affects the female reproductive system. Women with MRKH syndrome have normal external genitalia, but the uterus and vagina are underdeveloped or absent. The condition is also associated with abnormalities of other parts of the body.

Etiology

The exact cause of MRKH syndrome is unknown, but it appears to be a multifactorial condition, which means it likely results from a combination of genetic, environmental, and other factors. Some cases of MRKH syndrome are caused by changes in specific genes, including WNT4, HNF1B, and LHX1. However, most cases of MRKH syndrome do not have a known genetic cause.

Symptoms

The most common symptom of MRKH syndrome is primary amenorrhea, which is the absence of menstruation by age 16. Women with MRKH syndrome have normal development of secondary sexual characteristics including thelarche (breast development) and pubarche (pubic hair growth), but they do not have periods and are unable to conceive a child (infertile).

Diagnosis

Diagnosis of MRKH syndrome is usually made in adolescence when a girl fails to start having periods. A physical examination can reveal a short or absent vagina, and imaging tests such as ultrasound or MRI can show the absence of the uterus. Genetic testing can identify changes in the WNT4, HNF1B, and LHX1 genes, but these are found in only a small percentage of cases.

Treatment

There is no cure for MRKH syndrome, but treatments are available to help manage the condition. These may include dilation procedures or surgery to create a vagina, and counseling or support groups to help with the emotional aspects of the condition. Women with MRKH syndrome can have children through assisted reproductive techniques such as in vitro fertilization (IVF) and surrogacy.

See also

• Congenital anomalies of the genitalia
• Primary amenorrhea
• Infertility

NIH genetic and rare disease info

• NIH info on MRKH syndrome

MRKH syndrome is a rare disease.

MRKH syndrome Resources
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