Mayer-von Rokitansky-Küster-Hauser Syndrome (MRKH)

During pregnancy, the reproductive system of a developing baby may not finish growing. When this happens, the baby may be born without a vagina, cervix, uterus, or other organs. This condition is called Mayer-von Rokitansky-Küster-Hauser syndrome. It is also sometimes referred to as MRKH, vaginal agenesis, or Müllerian agenesis.

• MRKH affects one out of every 5,000 to 7,000 female infants.
• Sometimes it is recognized at birth, but more often, the condition isn't diagnosed until puberty when the teen notices she hasn't started her period and seeks medical advice.
• People with MRKH usually have a collection of symptoms including absent uterus, cervix, and/or kidney; hearing loss; and spinal abnormalities such as curvature of the spine.
• When symptoms only affect the uterus, cervix, and upper vagina, it is classified as MRKH Type 1; when they go beyond to other body structures or organs, it is MRKH Type 2.
• Young women with MRKH either have an absent vagina or an incomplete vaginal canal. They have ovaries and external genitalia and go through puberty. They develop breasts and underarm and pubic hair, but they will not have a period.
• Thirty percent of patients have kidney abnormalities. One kidney may be absent, or one or both kidneys are dislocated. The kidneys may also be fused together in a horseshoe shape.
• About 12 percent of females with MRKH have skeletal abnormalities. Two-thirds of those patients experience minor problems with the spine, ribs, or limbs.
• People with MRKH carry karyotype 46 XX, meaning they are genetically female. About 7 to 8 percent also have a less common condition called androgen insensitivity syndrome (AIS). These patients lack a vagina, cervix, uterus, and fallopian tubes, as well as ovaries.

• 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

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.

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.

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.

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.

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.