Mayer-Rokitansky-Küster-Hauser Syndrome

What is Mayer-Rokitansky-Küster-Hauser syndrome?

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome) is a rare congenital disorder that can affect women and people assigned female at birth (AFAB). It’s a condition that causes your vagina and uterus to be missing or underformed. In most cases, your ovaries and fallopian tubes function normally, and your external genitals are unaffected. This means you’ll have a lower vagina, a vaginal opening, labia (lips of your vagina), a clitoris and pubic hair. Your urethra is not affected by MRKH, so you can pee normally. In certain types of MRKH syndrome, organs like your kidneys and spine may also not form properly.

People typically discover they have MRKH syndrome during their teen years when they never have a menstrual period. This is because they don’t have a fully formed uterus and vagina. Other times, sexual intercourse is painful or impossible due to your vaginal canal being short and narrow.

Having an underdeveloped or missing uterus and vagina makes carrying a pregnancy impossible without medical help. However, if you have functioning ovaries and produce eggs, options like IVF (in vitro fertilization) and surrogacy may be an option. Talk to your healthcare providers about your desire for children so they can work with you on your options.

MRKH syndrome is also called:

• Congenital absence of the uterus and vagina (CAUV).
• Vaginal agenesis.
• Müllerian agenesis.
• Müllerian aplasia (MA).
• Genital renal ear syndrome (GRES).

Types of MRKH syndrome

There are two types of Mayer-Rokitansky-Küster-Hauser syndrome:

• Type 1: People with this type of MRKH syndrome have normally functioning ovaries and fallopian tubes but have a blocked or missing upper vagina, cervix and uterus. No other organs are affected.
• Type 2: People with this type of MRKH syndrome have a blocked or missing upper vagina, cervix and uterus, as well as issues with their fallopian tubes, ovaries, spine, kidneys or other organs.

How common is Mayer-Rokitansky-Küster-Hauser syndrome?

MRKH occurs in approximately 1 in 4,500 female infants.

What are the symptoms of MRKH syndrome?

Symptoms of MRKH syndrome can vary depending on what type you have.

In many cases, not getting a menstrual period (amenorrhea) by age 16 may be a sign your uterus or vagina isn’t developed. If your ovaries function normally, you may still have bloating, mood changes or other menstruation-related symptoms without any bleeding.

Because you have female chromosomes and hormones, you’ll experience typical sexual development such as growing breasts and underarm and pubic hair. You may also experience difficulty or pain when you try to have vaginal intercourse for the first time. This is because your vagina is thinner, narrower and shorter than a typical vagina.

If you have the second type of MRKH syndrome, you may also have:

• Kidney complications or missing one or both kidneys.
• Issues with your spinal vertebrae or other skeletal malformations.
• Hearing loss.
• Complications with your heart.

What causes Mayer-Rokitansky-Küster-Hauser syndrome?

Researchers aren’t entirely sure what causes MRKH syndrome, but they know issues with genes and chromosomes play a role. The condition hasn't been traced to one specific gene. It’s not caused by something the birth parent did or didn’t do during pregnancy.

Your reproductive system develops within the first few weeks of fetal development. Your fallopian tubes, uterus, cervix and upper vagina form from Müllerian ducts. With MRKH syndrome, the Müllerian ducts don’t finish developing. No one has figured out why this occurs in some people and not others. Your ovaries develop separately from the rest of your reproductive organs, which is why most people’s ovaries are unaffected.

How is Mayer-Rokitansky-Küster-Hauser syndrome diagnosed?

Healthcare providers diagnose most cases of MRKH syndrome when a teenager doesn’t get their first menstrual period.

The first step in diagnosing the condition is to perform a physical exam. Your healthcare provider will insert a gloved finger into your vagina to measure its depth and width. MRKH is associated with a shortened vagina, which your provider will likely discover through this exam. They’ll order imaging tests like an ultrasound or magnetic resonance imaging (MRI) to see if your uterus, fallopian tubes, kidneys or other organs are affected. Your provider may order blood tests to check hormone levels.

Is there any treatment for MRKH syndrome?

Treatment for MRKH depends on your goals and symptoms. There are surgical and nonsurgical treatment options, including vaginoplasty, vaginal dilation and a uterine transplant.

Vaginal dilation

Vaginal dilators are one treatment healthcare providers use to help stretch your vagina. Dilators are made of plastic or silicone and vary in length and width. These tube-like devices resemble a penis to help expand and stretch the inside of your vagina. Your provider will discuss the best way to use a vaginal dilator based on your condition.

Vaginoplasty

A vaginoplasty is a surgical procedure to create a vagina. There are several ways surgeons perform vaginoplasty, but most involve creating a hole and lining it with tissue from another part of your body.

Uterus transplant

A uterine transplant may allow a person with MRKH syndrome to carry a pregnancy. A uterus transplant is a major surgical procedure that involves placing a donor uterus inside a person without a uterus. Uterine transplants give people with MRKH an opportunity to carry and deliver a child. Uterus transplants aren’t widely available but could be a promising treatment in the future.

How can I prevent this?

There is no way to prevent MRKH syndrome. It can occur in people with no family history of the condition, or it can be genetic (run in your family). No one gene causes MRKH syndrome.

Can women with MRKH syndrome have a baby?

Yes, people with MRKH can have a baby. If your ovaries function, your eggs can be fertilized with sperm via IVF treatment. Then, the embryo is transferred to a gestational carrier (the person who carries the pregnancy for you).

What are the health complications of MRKH syndrome?

People with type 2 MRKH syndrome may have issues with other organs like their kidneys, spine or heart. Other health complications common in people with type 2 MRKH syndrome are:

• Vertebral issues.
• Scoliosis.
• Renal anomalies like renal fusion or renal agenesis (missing one or both kidneys).
• Increase risk for kidney stones, urinary tract infections and ureteral obstructions.
• Hearing loss.
• Heart problems.

Reproductive health complications are common in people with MRKH. Other than being unable to carry a pregnancy or have a biological child, conditions like endometriosis can occur in people with an underdeveloped uterus.

There are emotional complications associated with MRKH syndrome. Your healthcare provider may recommend finding a support group or getting cognitive-behavioral therapy (CBT) to help you cope with the diagnosis.

A note from Cleveland Clinic

Finding out you have Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome can be overwhelming. If you were born with an underdeveloped uterus or vagina, you might not know until your teen years when you don't menstruate (get a period). While it’s not life-threatening, MRKH syndrome causes significant stress and affects your ability to carry a pregnancy and have sex. In some cases, it causes problems with other organs and increases your risk for certain health conditions. Talk to your healthcare provider about treatment options based on your diagnosis. A team of specialists can work with you and offer support as you navigate MRKH syndrome.