Children's Hospital Colorado

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

What is Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as vaginal agenesis, is a disorder affecting females that is congenital, meaning that it is present at birth. Girls with MRKH have normal ovaries but an underdeveloped vagina and uterus, which may also be very small or even completely absent.

MRKH does not affect the development of external female parts, meaning girls with MRKH have normal pubic hair, labia, clitoris and lower vagina. Girls with MRKH have normal female chromosomes (46 XX).

What causes MRKH syndrome?

Internal female organs, including the ovaries, uterus, fallopian tubes and vagina, develop in the first few months of a baby’s growth inside her mother’s uterus. For those with MRKH, the development of the internal female organs is incomplete. The ovaries develop separately from the other reproductive structures and are therefore not affected in girls with MRKH. Doctors don’t know exactly what causes MRKH. Some think there might be a genetic cause, but this hasn’t been proven yet. MRKH is not believed to be caused by anything the mother did or didn’t do during the pregnancy.

Who gets MRKH syndrome?

MRKH is a congenital condition that affects about one in 5,000 girls.

Get to know our pediatric experts.

Stephen Scott, MD

Stephen Scott, MD

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Tricia Huguelet, MD

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Veronica Alaniz, MD

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Eliza Buyers, MD

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