MRKH for Clinicians

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female doctorsWhat is MRKH?

Mayer–von Rokitansky–Kuster–Hauser syndrome is a congenital anomaly of the female reproductive tract which may also be referred to as mullerian aplasia or mullerian agenesis. It is caused by embryologic growth failure of the mullerian structures. Approximately 1 in 4500 females who are diagnosed with MRKH, have vaginal agenesis, or an incomplete vagina and an absent uterus. Approximately 7%–10% of affected individuals have a normal but obstructed uterus or a rudimentary uterus with functional endometrium. Another variant is the presence of a uterus but with agenesis of the vagina and cervix. Individuals with MRKH have normal external genitalia and a normal female 46, XX karyotype with normal ovarian hormonal/oocyte function. Girls with MRKH have normal female serum testosterone and estrogen levels. MRKH is a syndrome that may or may not be associated with renal (absence of one kidney), skeletal, and hearing problems. The average age of diagnosis is reported to be between 15–18 years of age with the chief complaint being amenorrhea.

Clinical presentation: A young woman typically presents to her pediatrician secondary to primary amenorrhea. If an attempt is made to perform an internal exam a diagnosis may be made right away. In other cases, a young woman is referred to a specialist such as an adolescent gynecologist. Girls with MRKH generally go through puberty similarly to other adolescents, and have secondary sex characteristics such as pubic hair and breast development. Therefore, it is rare for a health care provider to suspect that anything might be formed differently before this point.

Physical Exam: The external exam reveals normal anatomy with secondary sexual development, normal perineum, and a vaginal dimple or small blind pouch. A rectoabdominal exam is sometimes done to determine whether the midline structures (upper vagina, cervix, and/or uterus) are present. Visualization of the introitus and a gentle exam using a small saline moistened cotton–tip applicator, Calgi swab, or a gloved finger (if patient is able to tolerate) will help determine the length of the vagina.

A Routine Pelvic Ultrasound: A pelvic ultrasound is done to assess renal structures and can confirm normal ovaries and an absent uterus. Remnants of uterine structures may be present and may cause cyclic or chronic pelvic pain. This is typically due to endometriosis which is caused by retrograde menstruation. An MRI may be necessary to evaluate whether there is functional endometrium present in a normal uterus or rudimentary horn. If endometrial tissue is present in a non–communicating rudimentary horn, a removal of the small horn or other tissue is necessary. In rare cases, an MRI may not be able to capture laterally displaced uterine horns.

Genetic testing: A blood test may be done to confirm normal female karyotype and an FSH level may be evaluated to determine normal ovarian function.

Treatment Options:

  1. No treatment– or delayed treatment until a young woman is mature enough to make her own decision. The decision for treatment or not to have treatment should always be made by the patient, after careful consideration of options.
  2. Non–surgical methods to create a neovagina–Frank, Ingrim, Progressive Perineal Dilation (PPD) and coitus. These methods include using dilators that expand and stretch the vaginal dimple or existing small vagina. Dilators should be prescribed by an adolescent gynecologist who specializes in caring for young women with congenital anomalies of the reproductive tract. Dilator teaching should be done by an experienced provider such as a gynecologist, clinical nurse specialist or nurse educator. Prior to receiving dilator teaching, young women should be evaluated and counseled by a knowledgeable nurse, social worker, therapist, or counselor to evaluate readiness for treatment and more importantly, to allow the patient an opportunity to ask questions about her diagnosis, what the dilation process will entail, fertility options, and how to communicate with family and friends.
  3. Vaginoplasty– Surgery which involves using a split skin graft from another part of the body such as the buttocks or bowel. (Ex. McIndoe procedure).
  4. Vecchetti procedure– A combination of surgery and dilation with continuous pressure using a traction device.

Accepted Standards of Care: The American College of Obstetricians and Gynecologists recommend vaginal dilators without surgery as the optimal treatment for creating a vagina. Health care providers recognize that this treatment is very effective and noninvasive without the risks of surgery or anesthesia and it actively engages the patient in her treatment.

Dilators: The use of dilators is referred to as the Frank Method. The original dilators were made out of glass. In the early 1980’s, Dr. Ingram created different size plastic dilators along with a seat that attaches to a stationary bicycle. This method is rarely recommended because it is difficult and awkward to use.

Today, hard plastic dilators have replaced glass dilators. The most widely prescribed dilators come in a set with different sizes ranging from XS–L. Most young women begin dilation with the XS size dilator. Typically an adolescent gynecologist, or clinical nurse specialist will teach the patient how to insert the dilator, the correct angle and amount of pressure to apply. The patient will take one dilator home with her at a time, and use it 2–3 times a day for about 15–20 minutes. In the beginning, most of the dilator is used as a “handle” because the existing vagina may be just a dimple or 1–2 cm in length. Later, as the vagina stretches, more of the dilator will be able to be inserted. The amount of time that it will take to create a vagina is dependent on how often and how consistently the young woman uses her dilator.

Follow–up: After a young woman begins dilation, she should return monthly for follow–up appointments so that her progress can be monitored. When the patient has made significant progress, the next size dilator is dispensed. It is VERY important that the patient keep her GYN appointments so that her progress can be monitored. Some young women become frustrated if they do not see instant results and may stop the dilation process and resume treatment later. The patient should not be reprimanded for not using her dilator; on the contrary, she must be reassured that it is her body, and her decision to dilate is hers alone. In general, it takes about 6–12 months but can take as little as 3–6 months if a young woman is motivated. After the desired outcome is achieved, girls who are not sexually active should use the largest size dilator for 15–20 minutes, once a week to maintain patency. Our success rate for helping patients to create a vagina at Boston Children’s Hospital is approximately 85–95%.

Surgery to Create a Vagina

McIndoe Procedure: A vaginoplasty involves making a vagina using a segment of the bowel, or skin graft from the buttocks (McIndoe) or another site and a vaginal mold. Young women who have this procedure must stay in the hospital on bed rest for approximately one week so that the newly created vagina will heal. After the operation, a soft dilator must be worn all the time for about 3 months, taking it out only to void or to have a bowel movement. Even though a vagina is created faster with surgery, the patient must be made aware that it is still necessary to
use dilators.

Williams procedure: This procedure involves the creation of a vaginal “pouch”. It is sometimes used when other surgical procedures have failed. This procedure is more popular in Europe than in the United States. Dilators are necessary following the procedure, but for only about 3–4 weeks, instead of up to 6 months (which is more typical with the McIndoe procedure). The down side with this procedure is that the angle of the newly created vagina can be awkward and the cosmetic appearance may be less than the patient wishes.

Bowel vagina: This is a major operation which involves making a vagina using a section of the bowel. The recovery involves 4–6 weeks of healing from major surgery, and dilators will need to be worn afterwards. Another disadvantage of this procedure is the patient will likely have chronic vaginal discharge and may need to wear a pad all the time.

Davydov procedure: The Davydov operation is a type of surgical procedure to create a vagina using a patient’s own peritoneal lining. The peritoneum is a membrane that lines the walls of the abdominal and pelvic cavities. While the patient is under anesthesia, an incision (cut) is made where the vaginal opening should be. Another incision(s) is made near the belly button to allow a thin instrument to be inserted into the peritoneal cavity. The peritoneal lining is then pulled down and stitched in place at the vaginal opening. The top of the newly created vaginal canal is then sewn closed. The vaginal space is then packed with gauze. The gauze is typically removed about two days after the operation. After the packing is removed, the patient must use various size vaginal dilators a few times a day for several months or until she becomes sexually active. The goal is not to obtain additional length or width but to maintain the new (newly created) vagina and prevent scarring. Most women who have this procedure stay in the hospital overnight for observation and then return for follow-up visits within the 7 to 10 days after surgery.

Laparoscopy–Vecchietti procedure: The Vecchetti procedure combines the use of dilators and a surgical procedure. This technique involves applying a traction device to the abdomen. This is done during a laparoscopy under general anesthesia. A plastic bead (about the size of an olive) is placed in the vaginal space, and is held with string that is threaded up through the vagina, into the abdominal cavity, and out to the traction device (which is secured to the skin outside of the abdomen). The vagina is formed using continuous pressure, 24 hours a day. The tension is set by turning a crank that is on the outside of the abdominal wall. The tension pulls the plastic bead upwards, creating vaginal length. The vagina can be created in about 7–10 days, but requires a long hospital stay to complete the process. Afterwards, a second procedure with anesthesia is necessary to remove the equipment. Dilators must be used following the procedure. The Vecchietti procedure is popular in Europe, but it is not commonly done in the United States.

When should a young woman with MRKH begin to create a vagina?

The best time for a woman to either use vaginal dilators or have surgery is when she is ready. The timing is different for everyone. The most common age at which girls decide they are ready to create a vagina is approximately between 16 –18, or before college. Sometimes girls wait until they are in college, and start treatment over summer break. Some young women prefer to wait until they have a sexual partner, and some decide not to do anything at all.

What if the vaginal dilators don’t work or my patient can’t use them?

If your patient is having difficulty or worried that she is using the dilator incorrectly, she should talk with a member of her GYN team so that they can assess any difficulties she may be experiencing and give her feedback and support regarding her progress. If she has used dilators properly and consistently and has had minimal progress, the GYN team may discuss surgical options.

What if my patient avoids using her vaginal dilator?

There may be one or several reasons why your patient may stop using her dilator. She may say that she doesn’t have the time due to a demanding school and extracurricular schedule, is worried that it is painful, or perhaps she is concerned about not having privacy. It is fine to ask your patient how things are going to determine if she is feeling comfortable with her treatment plan but we discourage reminders to use her dilator by her medical team and/or parents.

If your patient continues to avoid using her dilator, it may be that she is simply not ready to create her vagina. Suggest that she speak with a member of her GYN team about delaying treatment until she is ready will likely relieve her anxiety and allow her to have control over the situation.

Will my patient be able to experience sexual pleasure?

Yes. Typically, women do not experience pain with intercourse after treatment and can have a satisfying sex life. We typically suggest the use of a vaginal lubricant such as K–Y jelly since women with MRKH may have less vaginal secretions.

Fertility

If your patient was born without a uterus or if her uterus is tiny, she will not be able to “carry” a pregnancy. Since her ovaries are normal and make eggs, she will be able to have a biological child with assisted reproductive technology and a surrogate. This, however, is very costly and a financial burden for most families.

In rare cases, if a young woman is born without a vagina but has a normal size and normally–located uterus, it is likely that she will be able to become pregnant with the assistance of fertility interventions (in–vitro fertilization) and carry a baby.

Remember it is ALWAYS important to begin communicating by asking your patient how best you can help her! Your patient should be involved in the planning of her care and ultimately deciding her treatment plan.

Coping with a New Diagnosis of MRKH

It is not uncommon for adolescents with a new diagnosis of MRKH to have temporary changes in their emotions and behaviors as they adjust to a new understanding of how their body has developed. These concerns should decrease over time as your patient understands her diagnosis, is able to verbalize her concerns, and becomes involved in her treatment plan. Typical signs that your patient is upset may include changes in her sleep or eating patterns, worried comments about her body, concerns about treatments and medical appointments, and changes in behavior, such as becoming quiet and withdrawn, or aggressive and angry.

If the changes in her emotions and behaviors lasts longer than a few weeks or seem very concerning to you, your patient may be having a more difficult time adjusting to her diagnosis. If you or her parent(s)/guardian have concerns, you might suggest that your patient talk to a professional. It is essential that the counselor, therapist or social worker have experience with adolescents who have medical issues. It is also very important for the counselor to have accurate information about MRKH. You can direct them to this website.