Rokitansky-Kuster-Hauser Syndrome (RKH Syndrome) is a rare anomaly, characterized by total mullerian aplasia, resulting in congenital absence of the vagina, and presence of a rudimentary uterus in the form of bilateral and non-canaliculated muscular buds, accompanied with normal female secondary sexual characters, Fallopian tubes, ovaries, and endocrine and cytogenetic evaluations. Often the anomaly may be found associated with unilateral renal agenesis or adysplasia as well as skeletal malformations. It is the second most common cause of primary amenorrhea.
Only one in approximately 4,000 -5,000 girls are born with this condition. In most cases, the disease is not recognized until puberty is reached and the patient is evaluated for amenorrhea. However, occasionally diagnosis may occur at birth or in early childhood due to other health problems. A pelvic ultrasound and/or a laproscopic analysis is usually performed to diagnose the anomaly. Sometimes, a karyotypic analysis may also be performed, to rule out any cytogenetic abnormality. The most popular treatment for the RKH syndrome is a surgical reconstruction of the vagina. This involves implantation of a stent, which is covered by skin grafts. Non-surgical procedures involve using dilators to manually expand the tissue between the bladder and rectum. More important than the treatment strategy, however, is the psychological management of the patient and her family.