Definition

What is Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder that affects women. It is characterized by the failure of the uterus and the vagina to develop properly in women who have normal ovarian function and normal external genitalia. Women with this disorder develop normal secondary sexual characteristics during puberty (e.g., breast development and pubic hair), but do not have a menstrual cycle (primary amenorrhea). Often, the failure to begin the menstrual cycle is the initial clinical sign of MRKH syndrome. The range and severity of MRKH syndrome can vary greatly and the disorder is generally broken down into type I, which occurs as an isolated finding, and type II, which occurs with abnormalities of additional organ systems including mainly the kidneys and the skeleton. Because of the nature of the disorder, MRKH syndrome can cause significant psychological challenges and counseling is recommended.

How common is Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is rare. MRKH syndrome affects approximately 1 in 4,500 newborn girls. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?

Girls with MRKH have normal ovaries and fallopian tubes. Most often the uterus is absent or tiny. The vaginal canal is typically shorter and narrower than usual or it may be absent. Sometimes, there may be one kidney instead of two.

About 3% of girls diagnosed with MRKH will have a minor hearing loss and some may have spinal problems such as scoliosis (curvature of the spine).

Girls with MRKH have “normal external genitalia,” which means that everything on the outside of the vagina is not affected. This part of your body is called the “vulva” and includes what you can see – clitoris, urethra, labia, vaginal opening, hymen, and anus.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?

The exact cause of MRKH syndrome remains largely unknown but ongoing research has begun to provide some clues to its mechanism. Initially, MRKH syndrome was thought to occur randomly (sporadically) due to the involvement of non-genetic or environmental factors such as gestational diabetes or exposure to a teratogen, which is an agent that can disrupt the development of an embryo. No link between an environmental cause and MRKH syndrome has ever been established.

In recent years, increasing evidence suggests that MRKH syndrome is a genetic disorder. Some researchers have proposed that, in familial cases, the disorder is inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. Increasing case studies have now reinforced this idea.

Risk factors

What increases my risk for Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome diagnosed?

Your doctor will probably ask you questions such as: “When did you notice that your body was changing… going through puberty?”

Next, he/she may want to take a look at your outer female organs and also check to see how long your vagina is. Your doctor will gently put a Q-tip or gloved pinky finger at the opening of your vagina and then very slowly and carefully place the tip into the vagina to see how deep it is.

If your doctor thinks you might have MRKH, he/she will probably order a test called an ultrasound or an MRI (magnetic resonance imaging). These tests do not hurt and are similar to having an x-ray. Usually your doctor will refer you to a specialist who has experience taking care of young women with MRKH. A pediatric/adolescent gynecologist is a doctor with special training in young women’s reproductive health.

A pelvic ultrasound is usually the first test to check to see if a uterus or womb is present. This test can also confirm that you have two ovaries and two kidneys. Sometimes a very tiny uterus can be seen. A tiny uterus is called a “uterine horn or remnant”. You may need to have an MRI so that your doctor can see your female organs in more detail.

How is Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome treated?

The treatment of MRKH syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Depending upon the affected individual’s age at diagnosis, pediatricians or internists, gynecologists, kidney specialists (nephrologists), endocrinologist, orthopedic surgeons, plastic surgeons, physical therapists, psychiatrists and other health care professionals may need to work together to ensure a comprehensive approach to treatment.

Women with MRKH syndrome are encouraged to seek counseling after a diagnosis and before treatment because the diagnosis can cause anxiety and extreme psychological distress. Psychological support and counseling both professionally and through support groups is recommended for affected females and their families.

Treatment will usually include appropriate management of the physical findings associated with MRKH syndrome and psychological support for the emotional issues that often accompany the diagnosis.

The treatment of vaginal aplasia consists of creating a neovagina for sexual intercourse. This should be proposed to the women when they are emotionally mature and ready to start sexual activity. Treatment may be either nonsurgical or surgical. Nonsurgical techniques are considered the first-line approach. Vaginal dilators are specially designed plastic tubes that are used to help enlarge or create a vagina. The most common method is known as Franck’s dilator method. With this method, a physician (and then woman herself) applies a vaginal dilator, which progressively stretches and widens the vagina. This daily procedure may be continued for up to six weeks to several months.

Plastic surgery may be necessary to create an artificial vagina (vaginoplasty). There are a variety of different surgical techniques that may be used and there is no consensus as to which technique is best. Females who undergo surgery to create an artificial vagina will most likely need to use vaginal dilators after the surgery to enhance the chance of success.

Because females with MRKH syndrome do not have a functional uterus, they cannot bear children (infertile). However, some affected women have been able to have a child by using in vitro fertilization of their own eggs and surrogate pregnancy. However, because MRKH syndrome appears to be of genetic origin, the risk of passing on the disease to children exists and any decision to conceive should therefore be undertaken after careful consultation with their physicians and appropriate medical personnel.

Females with MRKH syndrome who exhibit absence of one kidney (unilateral renal agenesis) may have an increased susceptibility to urinary tract infections and/or kidney stones (renal calculi). Physicians should carefully monitor affected females for infection and prescribe antibiotics as necessary. Skeletal abnormalities may also require reconstructive surgery, physical therapy, and/or other medical management depending upon the specifics and severity of the bone deformities.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?

Most women and their parents find this condition very difficult to accept at first and express feelings of shock, anger, depression, isolation and rejection. Many parents also feel very guilty. There is a clinical psychologist available to all women with a diagnosis of MRKH, who will offer appropriate support, which is a vital aspect of your care.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: December 5, 2017 | Last Modified: December 5, 2017

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