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What Is Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome?

Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome is a rare congenital disorder that occurs during fetal development. It is present in approximately 1 in every 4,500 females at birth.

Because MRKH is characterized by an underdeveloped or nonexistent uterus and vagina, women with the condition suffer from Uterine Factor Infertility (UFI). UFI is a previously irreversible form of female infertility that affects as many as 5 percent of reproductive-aged women worldwide. A person with UFI cannot carry a pregnancy either because she was born without a uterus, has had the organ surgically removed, or has a uterus that does not function properly.

People with MRKH have normally-functioning ovaries and a female chromosome pattern, so external genitalia and secondary sexual characteristics, like pubic hair and breasts, develop normally. However, they typically do not experience menstrual cycles since their reproductive organs are absent or compromised.

Types of MRKH Syndrome

Mayer-Rokitansky-Küster-Hauser Syndrome cases are generally broken into two types:

  • In MRKH Syndrome Type 1, the uterus and upper vagina are abnormal, but other organs are unaffected.
  • In MRKH Syndrome Type 2, women experience abnormalities in other organs as well (most often the fallopian tubes, and commonly the kidneys and the spine).

In the majority of MRKH cases, an underdeveloped uterus makes it impossible to carry a baby. Nevertheless, healthy ovaries make it possible to have a biological child via assisted reproduction.

Symptoms of MRKH

A nonexistent menstrual period by age 16 is often one of the first signs of MRKH Syndrome, but there may be other symptoms. 

Symptoms of MRKH Type 1 include:

  • Painful or difficult sexual intercourse
  • Reduced vaginal depth and width

Symptoms of MRKH Type 2 are similar to Type 1, but may also include:

  • Kidney complication or failure due to abnormal kidney formation or positioning, or a missing kidney
  • Skeletal abnormalities (most commonly of the spinal vertebrae)
  • Minor hearing loss
  • Heart defects
  • Other organ-related complications

Diagnosis of Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome

Diagnosis for Type 1 Mayer-Rokitansky-Küster-Hauser Syndrome often happens in later adolescence, when a young woman hasn’t started her period. A Type 2 diagnosis can be prompted by an absent period or a wide range of other organ-related symptoms or abnormalities, sometimes at an earlier age.

Because shortened vaginal depth is often linked to MRKH, at the first sign of MRKH, doctors might use a device or gloved finger to gauge the vagina’s depth before ordering a pelvic ultrasound or MRI. The ultrasound will show whether a uterus or womb is present, and it can confirm the presence of fallopian tubes and kidneys.

Treatment for MRKH Syndrome at Penn Medicine

Uterus Transplant

Penn Medicine’s ongoing Uterus Transplantation for Uterine Factor Infertility (UNTIL) trial, which launched in 2017, is a potential treatment option for people with MRKH and other forms of UFI. The UNTIL trial is currently the only U.S. uterus transplant trial that is actively enrolling patients.

In November 2019, a woman enrolled in the UNTIL trial delivered the second baby in the nation to be born following transplantation of a uterus from a deceased donor.

Many other programs around the globe have focused on transplantation exclusively from living donors, and to date, there have been approximately 70 uterus transplants globally. However, Penn Medicine’s trial is one of few to explore donation from both living or deceased donors — an approach that has the potential to expand the pool of organs available for transplantation and allows investigators the opportunity to directly compare outcomes from the different types of donors.

Learn more about the UNTIL trial and Uterus Transplantation at Penn Medicine >

Other Treatment Options

There are surgical and non-surgical options to treat MRKH. Depending on your individual condition, you may benefit from one of the following:

Self-dilation

Self-dilation may allow you to create a vagina without surgery by using a small rod to expand your existing vagina over time.

Vaginoplasty

Surgical options are available if self-dilation doesn’t help you achieve your desired result.

You may have a vaginoplasty, during which a surgeon can create a functional vagina using a skin graft from your buttocks or a portion of your bowel. After a vaginoplasty, you will likely use a dilator, as well as artificial lubricant during intercourse, to help achieve and maintain a functional vagina.

Penn Programs & Services for Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome

Photo of Uterus Transplant Principal Investigators Kathleen O'Neill, MD, MTR and Paige Porrett, MD, PhD
Uterus Transplant

Uterus transplant has the potential to give women with uterine factor infertility the opportunity to carry and deliver a child

Toddler hugging and kissing pregnant mother's belly
Fertility Care

Men and women with fertility problems who are trying to conceive can turn to Penn Fertility Care for help.

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