Mayer Rokitansky Küster Hauser Syndrome (MRKH) occurs in 1/5000 girls with a 46XX karyotype and results in uterovaginal hypoplasia or agenesis. The etiology for this syndrome is unknown, but experts believe the cause is complex and multifactorial. This specific type of uterine malformation falls under the American Society of Reproductive Medicine’s (formally American Fertility Society) Uterine Classification Scheme as Class I.
The typical time of presentation is around the time of puberty, when young girls do not menstruate at the expected time. Affected girls may have normal breast and pubic hair development with absent menses. A physical exam confirms the presence of a vaginal dimple without a patent opening. Imaging studies such as ultrasound and magnetic resonance imaging (MRI) are helpful to determine the internal anatomy. Affected individuals will have normal ovaries, but a hypoplastic or absent uterus. Approximately 20-40% of individuals may have associated kidney or spinal abnormalities; therefore, once a diagnosis is established it is important to assess for additional anomalies as well.
Up to 1/2 of individuals with this condition may have “functional uterine remnants.” These remnants are not normally developed and do not connect to the vagina or a normal outflow tract. Nonetheless, these remnants may have functional endometrial tissue on the inside such that menstrual bleeding occurs in a closed space and may result in chronic cyclic pain.
Treatment of MRKH involves supportive counseling, vaginal dilation or surgical reconstruction to make the vagina a normal length, and removal of functional hypoplastic remnants if chronic cyclic pain occurs. Although present medical treatments do not allow for reconstruction of the uterus to allow individuals to carry a pregnancy, studies are underway to understand if other reconstructive options, such as transplant or tissue engineering may be possible. Because the ovaries are normal in these cases, it is possible to stimulate the ovaries with fertility medications and for eggs to be retrieved through the use of in vitro techniques and a surrogate carrier. As a multifactorial syndrome, not all cases are associated with inherited genetic problems. Therefore, it is reassuring to note that affected individuals have a very low risk of passing on this abnormality to girls born from affected women.
Finally, individuals with this condition have a higher risk for endometriosis, which may also be a source of abdominal pain. For more information about this condition or other types of uterine malformations, visit our Pediatric & Adolescent Gynecology website. Also, browse our Health Information Library for more information on various gynecological disorders.