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What is Mayer-Rokitansky-Kuster-Hauser Syndrome? Mayer- Rokitansky-Kuster-Hauser (MRKH) syndrome is an uncommon variation in the prenatal development of the female genital tract. Its features include an absent or very short vagina and a uterus that can be absent or immaturely formed. Females with Mayer- Rokitansky-Kuster-Hauser syndrome have functioning ovaries, normal external genitalia and the typical, 46, XX, female chromosome pattern. Breast development and growth of pubic hair are also normal. Associated renal and/or skeletal abnormalities are common. Mayer-Rokitansky-Kuster-Hauser syndrome is also known as Mullerian (female internal sex organs) Agenesis (no growth) syndrome (a group of related medical findings).
How often does Mayer-Rokitansky-Kuster-Hauser syndrome occur?
The incidence of Mayer- Rokitansky-Kuster-Hauser syndrome is approximately 1 in 4,000 - 5,000 female births. Although it has been determined that the absence of a vagina and uterus is a result of the Mullerian ducts failing to form properly early in embryonic development, its underlying cause is unknown.
When is a diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome made?
The normal external appearance of MRKH females makes it difficult to diagnose until puberty - often when a girl visits a physician because she has not started to menstruate. In some cases, a young woman may have attempted unsuccessfully to have intercourse. The average age of diagnosis is between 15 and 18 years, although occasionally a girl may be diagnosed at birth or during childhood because of other health problems. A pelvic ultrasound may be used to see the presence or absence of the uterus and its condition. Doctors might use laparoscopy, a surgical technique that allows the doctor to view the inside of the abdominal cavity, to determine the presence, absence and/or condition of the internal female sex organs. Blood work is usually done to determine a chromosome pattern and to test for hormonal levels.
Treatment: What can be done?
At present uterine transplants occur only experimentally. There are two options for the creation of a vagina: a surgical and non-surgical method. In the United States, the most widely used surgical method is the one described by McIndoe and Bannister in 1938. A skin graft is taken from the buttocks and used to cover a stent, which is then inserted into a surgically created space between the bladder and the rectum. A dilator must be used during the months following the McIndoe procedure to keep the vagina open.
The Frank method is the alternative to surgery. This method demands that the patient herself manually expand the soft tissue between the bladder and the rectum by applying intermittent pressure to the area using a set of successively longer and wider plastic dilators. The Ingram modification of the Frank method uses a stationary bicycle seat along with dilators to allow a patient to passively expand her vagina. It is very important that a physician monitor the patient’s efforts and progress. The amount of time it takes to non-surgically create a new vagina depends upon the commitment of the individual. It is possible for a young woman to make a functional vagina in 4 to 6 months. Both the surgical and non-surgical methods require that she be comfortable with examinations by physicians and touching her own body. Both methods require cooperation and effort from the patient.
Because a female with MRKH syndrome does not have a functioning uterus, she will be unable to conceive children. Adoption and surrogacy are her best options for starting a family. As a parent what can I do to help my daughter?
A diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome syndrome may create significant psychological challenges for both the young woman and her family. If possible, it is a good idea for you to talk to a mental health professional who has knowledge of psychosexual development in children and adolescents. Ideally, this professional will have experience in working with young women with MRKH or other variations in development of the sexual-reproductive system. Such a professional provides an opportunity to have your questions and concerns addressed, so that you will be better able to help your child. If you are adjusting well, this will improve your child’s ability to cope. It is very important for you to be educated about MRKH, its treatment options and its psychosexual consequences, so that you can be sensitive to and respond appropriately to your daughter’s questions and feelings.
Specific issues that probably will be of concern to you and your daughter include how and when to talk to her about her condition, whether or not to tell the rest of the family, her feelings of being "different", whom she can talk to about her "differences", sexuality, and alternative ways of creating families. In general, it is best to be honest, open and supportive with her. As soon as possible after diagnosis, depending upon your daughter’s age and emotional maturity, she should be encouraged to be a part of any discussions with her doctors regarding her condition and any decisions that need to be made. Your daughter’s understanding of and feelings about her condition will be improved by her having a solid understanding of sexual-reproductive behavior and by your sensitivity to her emerging sexuality. You can assist in this by talking with her and by reading quality sex education material with her. Also, because her own family will eventually be created by either adoption or surrogacy, it is a good idea to include stories and information about adoption (and surrogacy) in your conversations and readings.
What does the future hold for my child?
A female with Mayer-Rokitansky-Kuster-Hauser syndrome syndrome can be expected to maintain relatively normal sexual relationships. There is current research to support this. Her psychological adjustment to the condition depends upon many variables including pre-existing psychological health, a supportive family, care from medical advisors and the outcome of treatment. A patient and family should be reassured by this prognosis.
Contributed By:
Tom Mazur, Psy. D.
The Children’s Hospital of Buffalo
Buffalo, New York
Ellen Jones, M. Ed.
Division Consultant
Want to talk with other Mother's? There is a private listserv just for Mother of MRK Daughters. To join this group go here and apply: http://health.groups.yahoo.com/group/askaboutMRKH/ You must have a Yahoo ID first!
ADDITIONAL pages commonly requested
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