The diagnosis of MRKH syndrome comprises the genetic examination, which includes the chromosomal analysis to prove 46 XX chromosomes. Some studies also recommend doing hormonal tests, but if the breasts and other female features are normal, it means the ovaries to function well and produce the required amount of female hormones.
How can a girl find out that she has Mayer-Rokitansky-Kuster-Hauser syndrome?
Usually, women face with the diagnosis during pubertal period. They have normally developed breasts, pubic hair, but their periods don’t start. As ovaries produce female hormones, the pubertal development occurs, but the missing vagina, uterus lead to the absence of the periods. Some discover about the diagnosis when have difficulties during sexual intercourse.
What tests one should do to prove the diagnosis?
First of all, your doctor will ask you a number of questions and conduct a physical examination. This exam is usually done by the gynecologist. After that one should make a blood test in order to check the chromosomes which will help to exclude different abnormalities on the genetic level. A doctor may advise doing ultrasound scan or MRI scan which can prove the missing womb, vagina, cervix and normal functioning of the ovaries. Almost 40% of women with Rokitansky Syndrome have kidney abnormalities. In such a case an ultrasound of the kidneys and pelvis, MRI is recommended. Almost 15% of patients with MRKH have some urinary tract dysfunctions, so in this case X-ray examination can be suggested. Approximately 10% of women have difficulties with hearing and another 10% ˗ some changes in the bones. Depending on the complications, concerning these symptoms your doctor may advise doing some additional tests.
Criteria for MRKH syndrome diagnosis:
- Normal ovaries
- Normal female features
- Absent or inchoate uterus
- Normal breasts and vulva