Rokitansky Syndrome

Baron Karl von Rokitansky (1804-1878), an Austrian pathologist, performed more than 30,000 autopsies in his research. During one of them, he came across something startling - a woman born without a fully formed uterus, cervix, and vagina. This birth defect later becomd known as Rokitansky or Mayer-Rokitansky-Kuester-Hauser(MRKH) syndrome, named in part after three other scientists who also studied the condition.

 

The ovaries and fallopian tubes form, but the uterus, cervix, and upper portion of the vagina either are missing or don't fully take shape (called agenesis); in some cases, there may be kidney abnormalities.

 

Many women with MRKH have a very shallow vagina, known as a vaginal dimple. While most vaginas are about 5 1/2 inches deep, a vaginal dimple measures less than 2 inches. As a result , sexual intercourse can be difficult or impossible.

 

A woman with MRKH, by all physical appearances, leads a normal existence. She possesses a complete set of 46 female (XX) chromosomes, experiences the same physical and hormonal changes other young women go through during puberty, and undergoes ovulation(배란) every month.

 

The main difference is that, without a functioning uterus, she is unable to menstruate or become pregnant. If an MRKH couple wishes to have a child, the pair may opt for in vitro fertilization and a surrogate mother.

 

Some researchers believe that MRKH may stem from a defective gene, possibly on chromosome 22.

 

MRKH is one of a group of birth defects of the vagina or uterus known as mullerian anomalies. They affect up to 10 percent of women.