Throughout his lifetime, 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 become known as Rokitansky or Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome, named in part after three other scientists who also studied the condition. Although fewer than 20,000 cases of MRKH have been diagnosed worldwide, experts believe many others go unreported; some estimate that as many as 1 in 5,000 women are affected.

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Although the exact cause of the syndrome isn’t clear, it’s known that the reproductive system fails to completely develop when the fetus is about 3 months old. 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 51⁄2 inches deep, a vaginal dimple measures less than 2 inches. As a result, sexual intercourse can be difficult or impossible.

Despite these missing reproductive organs, 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 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. Although many women with this syndrome choose not to seek treatment, others undergo procedures to create a vagina through dilation (a gradual stretching) or surgery.

ADDITIONAL FACTS

  1. Some researchers believe that MRKH may stem from a defective gene, possibly on chromosome 22.
  2. MRKH is one of a group of birth defects of the vagina or uterus known as müllerian anomalies. They affect up to 10 percent of women.
  3. What we now call MRKH syndrome is described in medical literature as far back as Hippocrates’ Nature of Women.