Mayer-von Rokitansky-Kuster-Hauser Syndrome | Symptoms & Causes
What are the symptoms of MRKH?
- Small pouch or dimple where vaginal opening should be
- Lack of menstrual cycle or amenorrhea
- Lower abdominal pain if a uterus is present without connection to a vaginal canal
What causes vaginal agenesis?
The exact cause of this condition is unknown. There is little evidence that it runs in families. There are currently no known risk factors for MRKH.
Mayer-von Rokitansky-Kuster-Hauser Syndrome | Diagnosis & Treatments
How is MRKH diagnosed?
The first step in treating MRKH is getting an accurate and complete diagnosis.
Testing is especially important to understand the extent of reproductive anomalies. Young women typically undergo testing sometime during their middle teen years when they experience primary amenorrhea, or lack of a menstrual period, after having normal breast development.
Testing options for MRKH
- External genital exam
- Modified internal exam
- Ultrasound
- MRI
Sometimes a karyotype is performed for MRKH. Karyotyping is a test that allows doctors to examine chromosomes in a sample of cells and pinpoint specific genetic causes of a disease.
How is MRKH treated?
Most people with MRKH don’t require immediate treatment unless they are in pain or there is a specific medical reason to proceed. It's entirely up to the patient to decide when and if they are ready for treatment. They may need time to understand their condition and process any emotions that arise.
Patients may opt to wait or do nothing. Many people decide to have surgery to create or lengthen the vagina during their teenage years. This procedure is called vaginoplasty.
Vaginal dilators
A dilator is the standard and most efficient treatment for MRKH. It's recommended by the American College of Obstetricians and Gynecologists (ACOG) as the first line treatment to create a vagina for girls with MRKH.
The main advantage of vaginal dilation is that it doesn't require surgery. The main disadvantage is that it involves using a dilator once to twice a day until the vaginal canal is stretched to a normal length.
A vaginal dilator is made of hard, smooth plastic and is shaped similarly to a tampon. When pressure is applied by hand over time, it stretches the vagina. Ideally, it should be used 15 to 20 minutes twice each day. The process typically takes between two and 18 months. The size of the dilator will be increased as time goes on.
How does MRKH impact fertility?
Depending on the reproductive organs affected, sex and fertility could be impacted in a variety of ways. A woman with MRKH who was born with a normal-sized uterus may be able to become pregnant and deliver a baby. There are options for women born without a uterus or with a tiny uterus, such as using a surrogate to give birth.
How we care for MRKH at Boston Children’s Hospital
The teams in the Division of Gynecology and the Center for Congenital Anomalies of the Reproductive Tract at Boston Children's Hospital are committed to working with children and young women who are born with an anomaly of a reproductive organ, including MRKH. Our multidisciplinary team of gynecologists, radiologists, nurse specialists, and social workers have the expertise to treat your child. We are equipped to provide a full range of services including testing, treatment, counseling, and follow-up, not only caring for the physical effects, but also providing much needed emotional support for you and your family.
In addition, we offer the Center for Young Women’s Health as a resource. Founded by the Division of Gynecology and the Division of Adolescent and Young Adult Medicine, it brings together programs and services to empower young women around the world to take an active role in their health care. Doctors, nurses, and social workers collaborate to provide accurate diagnoses and exceptional care and treatment.
