How MRKH is inherited? In most cases it occurs in women who didn’t have the disorder in their families. Sometimes the syndrome can be passed through generations. The inheritance picture is often unclear and not understandable because the symptoms and signs vary from woman to woman. But, in some families, MRKH has autosomal dominant pattern of inheritance. It means that the copy of the modified gene in every cell is usually enough to evoke the disorder, though no genes were associated with Rokitansky syndrome. Generally, the cause of Mayer-Rokitansky-Kuster-Hauser syndrome is unknown. Probably, it results from the combination of environmental and genetic factors. There are no genes found that can be identified with such a syndrome. The abnormalities of the reproductive system in MRKH are associated with incomplete Mullerian duct development.

      This structure develops during embryogenesis into fallopian tubes, the uterus, cervix and upper part of the vagina. The cause of these Mullerian duct abnormalities is also unknown. Some researchers believe that fetus get the diagnosis because it was exposed to harmful substances during pregnancy period (some medicines or maternal illnesses), however this was not fully proved and identified. Also, it is still not understandable why female with such a diagnosis have some other abnormalities in different parts of the body, other than reproductive system.

Back to top