What is Rokitansky Syndrome?

Rokitansky syndrome, which is more commonly known as Mayer-Rokitansky-Kuster-Hauser syndrome, is a birth defect where women may be born with unformed or partially formed reproductive organs. The uterus, vagina, and cervix are generally the areas where problems occur, with the uterus being more common. Women with Rokitansky syndrome have normal female chromosomes, and they usually have fully functional ovaries. It’s also often impossible to tell that there is anything wrong by looking at them externally, so it’s common for the disorder to go undiagnosed until sufferers fail to have menstruation as teenagers.

This syndrome is thought to occur in approximately one out of every 5,000 women, although this number is relatively uncertain, and doctors aren’t sure about the reliability of the available statistics. There are many varying degrees of the Rokitansky syndrome. For example, women may be born with no uterus, or they may only have a smaller-than-normal uterus. Cases where a woman is missing the uterus, cervix, and vagina are considered to be rarer, while it is generally more common for one or two organs to be affected.

In most cases, Rokitansky syndrome isn’t generally dangerous, and treatment isn't always required. There are a few cases where the disorder can be accompanied by malformed kidneys and sometimes heart problems, and those issues may require additional procedures or lifestyle changes. Another case where women may want treatment is if they are born without a full vagina or no vagina at all. There are several procedures available to medically create a vagina, and some women choose to take advantage of these.

The cause of Rokitansky syndrome is somewhat mysterious. All that doctors are sure of is that something happens in a woman's body early in her pregnancy that stops the female organs from forming fully. The original theory was that it was probably caused by some kind of chemical exposure during pregnancy, but research on this has generally been inconclusive.

Many experts feel that there may be a genetic component, but it is also thought to be partially environmental. In most cases, there is no family history of Rokitansky syndrome, but a few families have been identified where the disorder is common. Doctors think a purely genetic cause is more likely in those cases, but the actual gene responsible hasn’t been identified. It is potentially possible that the genetic disorder is with the mother’s reproductive system, which may cause her to have a greater chance of difficulties with fetal development during pregnancy.