What Is MRKH Syndrome?

Approximately one in 4,500 women is born Mayer-Rokitansky-Küster-Hauser (MRKH), a condition that affects the reproductive system. With MRKH syndrome, people may not have a fully developed vagina and/or uterus. Sometimes, those organs may be completely absent. Since people with MRKH syndrome have an undeveloped or absent uterus, periods usually don't happen.

However, people with MRKH have a fully formed vulva, the external female genitalia. The vulva includes the vaginal opening, the labia majora, the labia minora, and the clitoris.

Here's what you should know about this genetic disorder, including its causes and treatments, as well as how it affects fertility.

Types of MRKH Syndrome

MRKH may vary in severity, and cases tend to be classified into one of two types.

Type One

MRKH syndrome type 1 affects only the uterus and vagina. These organs are either missing or not fully developed. Other organs are not affected.

Type Two

MRKH syndrome type 2 affects not only the reproductive organs but also other parts of the body. A person may have only one kidney, or their kidneys may develop abnormally. Skeletal abnormalities are also common. A person with this type might also have heart defects or hearing loss.

MRKH Syndrome Symptoms

One of the first signs of MRKH is not having a first period by age 16, Christine Greves, MD, an OB-GYN at Winnie Palmer Hospital for Women & Babies, told Health. People with this condition usually don't have periods since menstrual bleeding depends on a working uterus, and the uterus is either underdeveloped or absent in MRKH patients. 

"Women with MRKH usually have functioning ovaries, though," explained Dr. Greves. Likewise, breast and pubic hair development are normal with MRKH. "From the outside, you really can't tell," added Dr. Greves.

MRKH doesn't affect the urethra, so urination likely will not be affected. However, some people with MRKH do report pain with urination, urinary tract infections, and urgency, among other symptoms.

In addition to the absence of periods, symptoms of MRKH include:

• Dyspareunia, or painful sexual intercourse
• Apareunia, or the inability to have sexual intercourse
• Abdominal pain

What Causes MRKH Syndrome?

Researchers don't entirely know what causes MRKH. However, the condition may be genetically linked.

At a basic level, incomplete development of the Müllerian duct causes MRKH. The Müllerian duct is a structure in the embryo that later develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. Why that happens is unclear, though.

How Is MRKH Syndrome Diagnosed?

People with MRKH typically seek medical attention when they don’t get their periods as expected during puberty or, less commonly, when they have issues with fertility. The American College of Obstetricians and Gynecologists recommends seeing a healthcare provider if you haven't gotten your period by the age of 15, or if you don't get pregnant after a year of regular, unprotected sexual intercourse. 

A healthcare provider will look at symptoms and medical history. They will also perform a physical exam to check for signs of MRKH and other conditions. Patients with MRKH typically have a shortened vagina with no palpable cervix.

The next steps are to confirm that the uterus is missing or not fully developed, check hormone levels, and see whether the kidneys, skeleton, or other organs are also affected. To do this, a healthcare provider may perform the following tests:

• Ultrasound
• Magnetic resonance imaging (MRI)
  
• Spine x-ray
• Blood tests
  

Treatments for MRKH Syndrome

Some people will use spacers or vaginal dilators to "create or expand the small amount of vaginal tissue," Jennifer Wider, MD, a women's health expert, told Health. 

Other people may choose to undergo surgery that uses skin grafts to create a larger vagina, noted Dr. Greves.

Another component of treatment is therapy. The psychosexual impact of MRKH can be significant. Healthcare providers can provide clinical care through counseling and support in careful dialogue.

Comorbid Conditions

Typically, infertility is an issue for people with MRKH since they don't have a functioning uterus.

Some people with MRKH have endometriosis, which can cause pelvic and abdominal pain. People with MRKH may also experience incontinence, pain while using the bathroom, and other issues related to the pelvic floor. 

Depression and anxiety are common among people with MRKH. They may worry about how to tell family, peers, and partners about their condition. In addition, they may fear sexual intimacy and have low body image.

Living With MRKH Syndrome

Many people report feeling that infertility is the most difficult part of having MRKH. Even so, there are options.

"I have a patient who has MRKH, and she had a surrogate carry her baby," said Dr. Greves. "Now, she's a mama."

Until recently, the only option for a person with MRKH syndrome to conceive a child was through gestational surrogacy. However, some healthcare providers perform uterus transplantation (UTx) around the world. UTx allows people with MRKH to become pregnant.

Sex is another common concern for people with MRKH, but many people with the condition can have a satisfying sex life—especially since the clitoris is intact. With proper treatment, they can even have sexual intercourse. But like anybody else, people with MRKH can still get sexually transmitted infections, so it's important to use condoms.

While MRKH can take an emotional toll on some people, being able to share feelings with family, friends, and partners can be helpful. In fact, this is the best predictor of a good emotional outcome after being diagnosed with MRKH. Patients may also benefit from counseling and support groups.