MRKH syndrome is the name of a strange medical condition that affects about one in 4,500 women. MRKH is named after four doctors who described and discovered a rare condition that female babies may be born with. Their names are Mayer, Rokitansky, Kuster, and Hauser.
A child born with this syndrome may appear and feel like a completely normal girl until about the age of 16. She will have a normal appearing vagina, normal breast development, normal sexual identification, and a normal puberty. The usual first sign is failure to have her first period. During a physical exam, her vagina may be found to be short and narrow. Ultrasound and MRI imaging studies may show absent or incomplete development of the uterus, cervix, and upper part of the vagina.
The cause of MRKH syndrome is developmental failure of a structure in a developing baby called the mullerian duct. This structure normally develops into the upper vagina, cervix, fallopian tubes, and uterus. The the lower vagina and ovaries develop separately, which is why girls look and feel normal.
Why this developmental failure occurs remains a mystery. It may be a genetic defect that runs in families, but in many cases there is no family history. The current theory is that there are genetic defects, but they need to be triggered by some environmental factors to become active. So far, none of these factors have been identified.
A more severe form of MRKH syndrome is called MRKH type 2. This type may also have abnormal kidney development with an absent or displaced kidney or abnormal spinal development with a short neck or curved spine (scoliosis). These girls may have symptoms of urinary tract infection or incontinence. These symptoms along with scoliosis may lead to an earlier diagnosis.
In any case, being diagnosed with this syndrome as a young woman can be psychologically devastating. Sexual intercourse can be difficult or painful and having a normal pregnancy is impossible. Treatment can help, but it requires an experienced team of health care providers specializing in adolescent gynecology, reproductive endocrinology, mental health, and plastic surgery.
The ability to have sexual intercourse can usually be restored. The upper part of the vagina can be stretched (dilated) by a gynecologist, and a woman can learn to dilate her vagina on her own. If dilation is insufficient, reconstructive surgery can be done to enlarge the vagina.
Dealing with the uterus and a future pregnancy is more challenging. Since a woman with MRKH has normal ovarian function, eggs can be harvested for in vitro fertilization (IVF). They cannot be placed back into her uterus to grow, but they can be combined with her partner’s sperm and placed into the uterus of surrogate (surrogate pregnancy).
If there is a family history of MRKH, genetic counselling should be done before IVF to consider the risk of passing the syndrome to a female child. A future possibility is a uterus transplant. This surgery is still experimental, but there have been a few successful transplants done in Sweden that have resulted in pregnancies. Research on this procedure is being done at the Cleveland Clinic.
If you or someone you know is struggling with a diagnosis of MRKH syndrome, the American College of Obstetrics and Gynecology recommends Beautiful You MRKH for information and support.