MayerRokitanskyKüsterHauser

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital condition affecting the female reproductive system. It is characterized by the underdevelopment or absence of the uterus, cervix, and the upper part of the vagina. The ovaries are typically present and functional, meaning individuals with MRKH syndrome will develop secondary sexual characteristics like breasts and pubic hair at puberty, and will ovulate. However, they will not menstruate due to the absence of a uterus.

The exact cause of MRKH syndrome is not fully understood, but it is believed to be a developmental anomaly that occurs during fetal development. It is not inherited in a straightforward Mendelian pattern, though genetic factors are likely involved. MRKH syndrome is diagnosed through a combination of medical history, physical examination, and imaging studies such as ultrasound or MRI. The diagnosis is often made during adolescence when menstruation does not begin.

While MRKH syndrome prevents natural conception, individuals can achieve pregnancy through assisted reproductive technologies. Gestational surrogacy, where another woman carries a pregnancy using the individual's eggs, is a common option. Research is ongoing into uterine transplantation as a potential future avenue for fertility. Psychosocial support is an important aspect of care for individuals diagnosed with MRKH syndrome, addressing the emotional impact of the diagnosis and exploring fertility options.