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Mayer-Rokitansky-Küster-Hauser Syndrome

Updated: Jun 4, 2018


The Mayer-Rokitansky-Küster-Hauser syndrome is known by its acronym as MRKH. It is also called Müllerian agenesis or vaginal agenesis. This disorder was named in honor of the

contributions of August Franz Joseph Karl Mayer (in 1829), Carl Freiherr von Rokitansky (in

1838), Hermann Küster (in 1810), and Georges André Hauser (in 1861).



Anatomy of the female reproductive system. The organs in the female reproductive system include the uterus, ovaries, fallopian tubes, cervix, and vagina. The uterus has a muscular outer layer called the myometrium and an inner lining called the endometrium. Credit: Terese Winslow LLC/National Cancer Institute

Diagnosis

MRKH is a rare congenital malformation characterized by a failure of the Müllerian duct to develop, resulting in a missing uterus and variable degrees of vaginal hypoplasia of its upper portion. A woman with MRKH syndrome has normal production of female hormones. That is, when she reaches puberty, she will develop her female sexual characteristics, including the thelarche and adrenarche. Its chromosomal characteristics are normal and usually produces ovulation. Frequently the vagina is shortened, making sexual intercourse difficult and painful. This disorder affects about one in 5,000 women at birth.


Women suffering from this syndrome cannot be pregnant. However, they can still be biological mothers. Since ovaries are present, women with this syndrome can have genetic children through IVF, when eggs are removed, fertilized outside the body, and the embryo is transferred to a gestational carrier.




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