What is Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH)

Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) is a rare congenital disorder that affects the development of the female reproductive system. It is characterized by the absence or underdevelopment of the uterus and the upper part of the vagina, while the external genitalia appear normal. This condition typically becomes apparent during adolescence when menstruation fails to occur.

MRKH syndrome is believed to result from abnormal development of the Müllerian ducts during fetal development. The exact cause is unknown, but it is thought to involve a combination of genetic and environmental factors. While the absence of a uterus means affected individuals cannot carry a pregnancy, they usually have functioning ovaries and are able to undergo assisted reproductive technologies such as in vitro fertilization to have biological children.

Diagnosis of MRKH syndrome involves a physical examination, imaging tests, and sometimes genetic testing. Treatment options include surgical creation of a neovagina, hormone therapy, and psychological support to help individuals cope with the emotional impact of the condition.