What is Mayer-Rokitansky-Küster-Hauser syndrome?

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome) is a rare congenital disorder that can affect women and people assigned female at birth (AFAB). It’s a condition that causes your vagina and uterus to be missing or underformed. In most cases, your ovaries and fallopian tubes function normally, and your external genitals are unaffected. This means you’ll have a lower vagina, a vaginal opening, labia (lips of your vagina), a clitoris and pubic hair. Your urethra is not affected by MRKH, so you can pee normally. In certain types of MRKH syndrome, organs like your kidneys and spine may also not form properly.

People typically discover they have MRKH syndrome during their teen years when they never have a menstrual period. This is because they don’t have a fully formed uterus and vagina. Other times, sexual intercourse is painful or impossible due to your vaginal canal being short and narrow.

Having an underdeveloped or missing uterus and vagina makes carrying a pregnancy impossible without medical help. However, if you have functioning ovaries and produce eggs, options like IVF (in vitro fertilization) and surrogacy may be an option. Talk to your healthcare providers about your desire for children so they can work with you on your options.

MRKH syndrome is also called:

• Congenital absence of the uterus and vagina (CAUV).
• Vaginal agenesis.
• Müllerian agenesis.
• Müllerian aplasia (MA).
• Genital renal ear syndrome (GRES).