What Is MRKH Syndrome?

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a condition in which a female is born with normal external genitalia, but an underdeveloped vagina and uterus—or neither of these organs at all.

MRKH syndrome is a lifelong condition that may be associated with other complications. People with MRKH usually do not menstruate, for example, and may have urinary problems.

This article explains MRKH syndrome, how type 1 and type 2 MRKH differ, and the possible underlying genetic causes of MRKH. It also explains how MRKH is treated.

What Is MRKH Syndrome?

MRKH syndrome is the most common type of vaginal agenesis. Agenesis is Latin for "not developed," and the MRKH diagnosis affects about one in every 4,500 to 5,000 females. 

MRKH syndrome doesn't affect external genitalia, and people diagnosed with MRKH often have generally functioning ovaries. But they have a small vaginal opening, between 1 and 3 centimeters (cm) deep. This may be referred to as the "vaginal dimple."

It's the internal genitalia that's affected in people with MRKH syndrome. They typically have no uterus and no, or only a partial, vagina. They may also have a partially formed uterus.

Because the vulva appears normal, a woman may only discover she has MRKH syndrome when they fail to get their menstrual period. Or, they may try and fail to have vaginal intercourse.

Other names for MRKH syndrome include:

• Vaginal agenesis
• Müllerian agenesis
• Congenital absence of the uterus and vagina (CAUV)
• Müllerian aplasia (MA)
• Küster's syndrome

There's some evidence that MRKH syndrome may have an underlying genetic cause and sometimes runs in families, but most cases don't appear to. No single gene has yet been identified as causing MRKH syndrome, although roughly about a half-dozen seem to be involved in patterns identified by researchers.

This may be because it is caused by the interaction of multiple genes. There may also be other, non-genetic causes that have not yet been identified.

MRKH Types and Symptoms

There are two major variations on MRKH syndrome. The most well-known type is type 1. Type 1 is also known as isolated MRKH or Rokitansky sequence. Individuals with type 1 MRKH usually have a blocked or missing uterus, and a vagina with normal fallopian tubes. They have no other symptoms of the syndrome.

There is also type 2 MRKH, which is also known as MURCS association. MURCS stands for Müllerian duct aplasia, renal dysplasia, and cervical somite anomalies.

In addition to vaginal and uterine problems, individuals with type 2 MRKH may also have damage to their kidneys and musculoskeletal system, often the spine. Slightly more than half of the people with MRKH syndrome have type 2.

MRKH syndrome can be classified using several systems:

• ESHRE/ESGE - European Society of Human Reproduction and Embryology and European Society for Gynecological Endoscopy Classification
• VCUAM - Vagina, Cervix, Uterus, Adnex, and associated Malformation classification
• AFS/AFSRM - American Fertility Society and American Society of Reproductive Medicine Classification
• Embryological-Clinical classification

The effects of MRKH syndrome on a person's daily life depend on how strongly their body has been affected by the condition. Treatment also depends on the classification of the disease.

Diagnosing MRKH

MRKH syndrome is most often diagnosed when a young woman fails to get her menstrual period, typically by age 16. If an exam is performed at that time, the healthcare provider will likely discover the lack of a fully formed vagina and uterus.

Further diagnosis might include tests such as:

• Blood tests
• Magnetic resonance imaging (MRI)
• Ultrasound
• Laparoscopic surgery

These tests can help to diagnose other organ systems affected by MRKH, and determine the presence of functioning ovarian tissue. They offer information to better characterize MRKH syndrome after it has been identified during a physical exam.

MRKH Treatment

MRKH syndrome can be managed either surgically or non-surgically. Non-surgical treatment uses dilators to slowly create a neovagina.

Dilation

Basically, a person uses a rounded silicone rod to put pressure against the vaginal dimple. Over time, this causes the vagina to deepen and expand.

There is also a dilation technique where the dilator is placed on a stool. It allows for body weight to help with dilation.

However, there are some complications with the dilation technique. For example, perforation has been known to occur when using a dilator and may affect the vaginal space and urinary bladder.

Surgeries

MRKH syndrome can be treated through various surgical options. They are used to increase vaginal depth or create a vagina.

The Vecchietti procedure is one option, with a reported anatomic success rate of 99%, meaning achieving vaginal depth of >6cm. Functional success, meaning the ability to have vaginal intercourse, is also high at 96%. It relies on a bead, about the size of a marble, that's attached to the vaginal dimple. Surgical sutures are threaded into the pelvis and abdomen, and then attached to a traction device for about two weeks.

Once the vagina is at least 7 to 8 centimeters deep, the device is removed. People can dilate their vagina to maintain its depth and function. This procedure is faster than non-surgical dilation and may require less motivation.

People can also undergo surgical vaginoplasty. During a vaginoplasty, a cavity is created and then lined with tissue to make a neovagina. There are several types of tissue that can be used to line the neovagina, including:

• Peritoneal (abdominal cavity) tissue
• The colon
• The lining of the cheek
• A skin graft

In most cases, people need to dilate the neovagina to maintain it after surgery.

MRKH and Having Children

MRKH syndrome doesn't always mean people can't have biologically related children. When a person with MRKH has functional ovaries, in vitro fertilization (IVF) techniques can be used to harvest eggs. Then fertilized eggs can be implanted in a gestational carrier or surrogate.

Unfortunately, IVF surrogacy may not be financially or legally feasible for many people. The procedures can be quite expensive and may not be covered by insurance. In addition, laws about surrogacy vary from country to country.

While uterine factor infertility (UFI) is a barrier due to the absence of a functional uterus, there have also been isolated reports of successful uterine transplants. A uterine transplant has the potential to allow a person with MRKH syndrome to carry a pregnancy.

However, uterine transplants are unlikely to be widely available for quite some time. Therefore, people with MRKH syndrome should not yet count on them as an option.

A Word From Verywell

Psychological support is important when dealing with MRKH syndrome. Being born without a uterus and most of a vagina can cause serious problems for self-esteem. There are online support groups available. People may also benefit from in-person support and therapy, so don't hesitate to ask your healthcare provider for a referral.