Rokitansky syndrome is a birth defect affecting the reproductive organs of women, with the uterus being the most commonly affected area. It is thought to occur in about one in 5,000 women, and while treatment is not always necessary, some women may choose to undergo procedures to create a vagina. The cause of the syndrome is uncertain, but it is believed to have both genetic and environmental factors.
Rokitansky syndrome, more commonly known as Mayer-Rokitansky-Kuster-Hauser syndrome, is a birth defect in which women can be born with unformed or partially formed reproductive organs. The uterus, vagina and cervix are usually the areas where problems occur, with the uterus being most common. Women with Rokitansky syndrome have normal female chromosomes and usually have fully functional ovaries. It’s also often impossible to tell that anything is wrong by looking at them from the outside, so it’s common for the disorder to go undiagnosed until sufferers can menstruate as teenagers.
This syndrome is thought to occur in about one in 5,000 women, although this number is relatively uncertain and doctors are unsure of the reliability of available statistics. There are many different degrees of Rokitansky syndrome. For example, women may be born without a uterus or may only have a smaller than normal uterus. Cases where a woman is missing her uterus, cervix and vagina are considered to be more rare, while it is generally more common for one or two organs to be affected.
In most cases, Rokitansky syndrome is generally not dangerous and treatment is not always necessary. There are some cases where the disorder may be accompanied by malformed kidneys and sometimes heart problems and such problems may require additional procedures or lifestyle changes. Another case where women might want treatment is if they were 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 them.
The cause of Rokitansky syndrome is somewhat mysterious. All doctors are sure of is that something happens in a woman’s body in early pregnancy that prevents the female organs from fully forming. The original theory was that it was likely caused by some type of chemical exposure during pregnancy, but research into this has generally been inconclusive.
Many experts believe 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 that a purely genetic cause is more likely in these cases, but the actual gene responsible has not been identified. It is potentially possible that the genetic disorder affects the mother’s reproductive system, which could make her have a greater chance of difficulties with fetal development during pregnancy.
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