Table of ContentsView AllTable of ContentsWhat Is MRKH Syndrome?Types and SymptomsDiagnosisTreatmentHaving Children
Table of ContentsView All
View All
Table of Contents
What Is MRKH Syndrome?
Types and Symptoms
Diagnosis
Treatment
Having Children
Mayer-Rokitansky-Küster-Hauser(MRKH) syndrome is a condition in which a female is born with normal external genitalia, but an underdevelopedvaginaanduterus—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.
Klaus Vedfelt / Getty Images
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.
MRKH syndrome was first described in 1829. However, historical evidence of the condition dates back to 460 BCE.
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 havevaginal intercourse.
Other names for MRKH syndrome include:
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, andcervical 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 and Other Body SystemsMany people with MRKH syndrome only have genital malformations. However, in other cases, the kidneys, urinary tract, skeleton, ears, and heart may be affected.
MRKH and Other Body Systems
Many people with MRKH syndrome only have genital malformations. However, in other cases, the kidneys, urinary tract, skeleton, ears, and heart may be affected.
MRKH syndrome can be classified using several systems:
Diagnosing MRKH
Further diagnosis might include tests such as:
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.
Vaginal dilation is a lifelong commitment that’s successful in about 75% of people with MRKH who try it.For some people, regular sexual intercourse can reduce the need to dilate after enough depth has been achieved.
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 surgicalvaginoplasty. 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:
In most cases, people need to dilate the neovagina to maintain it after surgery.
MRKH and Urination (Peeing)Most people with MRKH can urinate with their existing vagina. However, it’s not uncommon to have urinary problems. One study found that 70% of the 614 people studied (about half of whom had undergone dilation, surgery, or both) had urinary pain, urgency, and other symptoms, including frequenturinary tract infections.
MRKH and Urination (Peeing)
Most people with MRKH can urinate with their existing vagina. However, it’s not uncommon to have urinary problems. One study found that 70% of the 614 people studied (about half of whom had undergone dilation, surgery, or both) had urinary pain, urgency, and other symptoms, including frequenturinary tract infections.
Urological Health
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.
While uterine factor infertility (UFI) is a barrier due to the absence of a functional uterus,there have also been isolated reports of successfuluterine 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.
10 Sources
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Bombard DS 2nd, Mousa SA. Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review. Gynecol Endocrinol. 2014 Sep;30(9):618-23. doi:10.3109/09513590.2014.927855
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