What Is MRKH Syndrome?

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome — also known as Müllerian agenesis or vaginal agenesis — is a rare condition that causes underdevelopment of the uterus, cervix and upper vagina. MRKH patients are born with this condition (congenital), which is diagnosed in childhood or adolescence. MRKH syndrome affects one in 4,500 people assigned female at birth.

There are two MRKH syndrome types. In MRKH Type 1, MRKH syndrome includes underdevelopment of the uterus, cervix and upper vagina. In MRKH Type 2, the same underdevelopment of these structures occurs. People with MRKH Type 2 also have other differences in the kidneys, spine and, on rare occasions, the ears and heart. For example, these patients may have just one kidney or a kidney in an unusual location such as the pelvis. Patients may also have conditions like scoliosis.

MRKH Syndrome Causes

The cause of MRKH syndrome is unknown. The specific genes that lead to MRKH syndrome have not yet been identified. Research is continuing.

MRKH syndrome is not considered hereditary (passed from parents to children). Most people impacted by this condition have not had biological children.

MRKH Syndrome Symptoms

One of the most defining symptoms of MRKH syndrome is a lack of a menstrual period (amenorrhea) by age 15. People with MRKH also are affected by uterine factor infertility due to the underdevelopment of the uterus and upper vagina. As a result, people with MRKH cannot carry a pregnancy. Since they have normal ovaries, however, they can have biological children through other means.

Because people with MRKH do not have periods, some may have abdominal pain. This happens because of the buildup of endometrial lining that would normally escape during a menstrual period. This pain occurs with a monthly cycle. It tends to get worse as the person ages. People with MRKH still ovulate, so they may have ovulatory cramping.

Around half of people with MRKH have related congenital conditions. As a result, those with MRKH may also have:

• Bowel symptoms
• Congenital spine and conditions
• Kidney abnormalities
• Hearing loss
• Urinary symptoms

MRKH Syndrome Diagnosis

Doctors diagnose most people with MRKH around age 14-15 years when they do not start having periods after otherwise normal puberty.

To diagnose MRKH syndrome, doctors will take a health history and complete an exam. They will also conduct pelvic imaging, including an ultrasound or magnetic resonance imaging (MRI). They will do bloodwork to look at puberty hormones. Genetic testing will be done to confirm female sex chromosomes.

To determine the MRKH syndrome type, doctors also will screen for kidney, spine and, occasionally hearing issues.

MRKH Syndrome Treatment

Because MRKH syndrome impacts their anatomy, some people choose to lengthen the vagina. MRKH dilation therapy is often the first step in treatment. It is very low risk. People can try to lengthen the vagina either through a dilator or through coital (sex) dilation. Most dilation is done at home following coaching from the care team. MRKH dilation takes around six months. It is successful in about 90% of people using this treatment.

For people who are unable to dilate using these methods, there are many surgical options available. There is no standard surgical option. Options vary by a surgeon’s expertise. Some surgical techniques include dilation, tissue grafts from other parts of the body or a combination of both.

Some people may choose not to lengthen the vagina. It’s important that dilation or surgical lengthening is only done when the person chooses to and feels ready.

There are many ways to have a family, including adoption and surrogacy. Those with MRKH can have biological children since MRKH syndrome does not affect their ovaries. If people with MRKH choose to have children, they can get reproductive help through in vitro fertilization (IVF) and surrogacy. There are also clinical trials for uterine transplantation that may allow people with MRKH to carry a pregnancy to term.

MRKH syndrome treatment also includes routine gynecologic care, such as HPV vaccination and testing for sexually transmitted disease (STD).

Patients with this condition do not have a cervix, so they are not screened for cervical cancer; however, they are educated on why they should receive the HPV vaccination.

For people having abdominal pain with MRKH syndrome, over-the-counter ibuprofen is the first step. Other medications, including estrogen and progesterone pills, can help prevent consistent cramping.

People with MRKH can also benefit from psychosocial support. This could include sexual health counseling, grief counseling and family support.

MRKH Syndrome Prognosis

People with MRKH syndrome can expect to live a full life. There is currently no data on early menopause since ovarian function is not affected.