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Writer's pictureManya Jauhari
Sep 22, 20225 min read

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that primarily affects women and their reproductive system. This disorder causes the absence of the vagina and uterus or its complete lack of development therefore eople affected by this syndrome usually do not menstruate. MRKH syndrome is estimated to affect about 1 in 4,000-5,000 women in the general population. It is the second most common cause of primary amenorrhea.


What is MRKH syndrome?

MRKH syndrome, also known as Mullerian aplasia, is mainly a disorder characterized by the failure of the development of the uterus and vagina while still having normally-functioning ovaries and external genitals. They may still develop normal secondary sexual characteristics. However, they suffer from primary amenorrhea1, and they are unable to give birth. While this syndrome is extremely rare, people who suffer from this disorder may have significant psychological or mental challenges.


Types of MRKH Syndrome:

The severity and symptoms of MRKH syndrome vary greatly according to the type of MRKH syndrome a woman has. It is divided into type I and type II. In general, type I does not affect other organs besides reproductive ones, but in type II, other organs may also be affected.


Type 1: the uterus and upper vagina could be abnormal/underdeveloped. However, other organs remain unaffected. It is known as the isolated Mullerian aplasia or Rokitansky sequence.

Type 2: women experience abnormalities in organs like the kidneys and the spine while also seeing effects in their reproductive system. Abnormalities in other organs could cause multiple other problems. It may also be known as Mullerian duct aplasia or Renal dysplasia.


Causes:

The exact cause of MRKH syndrome remains a big mystery, but there is no doubt that it is genetic. Recent studies have shown that there could be a possible involvement of several chromosomal segments, including genes that account for this disorder.

Originally, MRKH syndrome was thought to occur randomly due to the involvement of non-genetic or environmental factors such as diabetes, or exposure to a teratogen2. In recent years, evidence indicates that MRKH syndrome is a hereditary disorder and is genetically linked to the inheritance of an autosomal dominant gene.

Polygenic multifactorial inheritance has also been proposed as a cause of MRKH syndrome. Polygenic multifactorial inheritance refers to the interaction of many genes (polygenic) in the development of a disorder in which each gene has a role in its development.



Signs & Symptoms of MRKH Syndrome:

One of the earliest and most common signs is when an adolescent does not get her period by the age of 16 or 17. Symptoms of this syndrome vary according to the type of syndrome.


Symptoms of MRKH Type 1 include:

  • Painful sexual intercourse

  • Reduced vaginal depth and width

  • Inability to give birth (Infertility)

Symptoms of MRKH Type 2 are mostly similar to type 1, but they also include:

  • Complications in the kidney or kidney failure (due to missing or abnormal kidneys)

  • Abnormalities in the skeleton due to complications in the spine: bones in the spinal column within the neck and the upper back may develop improperly

  • Minor hearing loss: Some affected women develop hearing loss due to the failure of sound waves to be conducted through the middle ear (conductive hearing loss), usually due to structural abnormalities of the middle ear.

  • Defects in the heart

  • Other organ-related complications.

Symptoms always vary as every woman’s body is different.

Diagnosis:

Diagnosis of MRKH requires clinical examination and ultrasound imaging techniques in order to confirm the existing uterine and vaginal aplasia and the existence of normal ovaries. The diagnosis for this disorder usually occurs later in adolescence, when the young woman has not begun menstruation. As mentioned before, the absence of menstruation is a common sign which may prompt a diagnosis of type I. For type 2 diagnosis, a wide range of organ-related symptoms could eventually lead to the diagnosis.


Medical Professionals may use a device or gloved finger to gauge the depth of the vagina before ultrasound or MRI. The ultrasound determines whether the woman is missing a uterus or vagina. MRIs can determine other organ-related difficulties (kidneys, spine, etc.)


Treatment methods:

There are multiple options to treat MRKH and they may be surgical or non-surgical. Treatment methods are chosen depending on the severity of the situation or the comfortability of the patient.


Surgical option: Uterus transplant

Transplanting a new uterus has quickly become a popular treatment method for women with problems related to their uterus.

Since 2011 and even earlier, reports of women born with uterus aplasia and diagnosed with MRKH syndrome that have undergone a uterus transplant managed not only to retain the transplanted uterus but even went on to produce offspring and carry out normal pregnancies, while giving birth to healthy children. In total, 42 women worldwide have received transplanted wombs and 11 babies have been born as a result until May 2017.


Self dilation:

This allows you to create a vagina without surgery by using a small rod to expand your existing vagina over time. This treatment method only works for women with an underdeveloped vagina.


Vaginoplasty:

A surgeon creates a functional vagina using a skin graft from the woman’s buttocks or bowel.



Case Study:

This work is an example of different types of MRKH syndrome diagnosed in 25 women who were diagnosed due to primary amenorrhea from 01/2001 to 06/2018.

Patients with MRKH syndrome are able to have offspring through adoptions/surrogacy but are unable to give birth to their own child, due to an absence of the uterus or vagina. Patients have the opportunity to receive treatment in accordance with their current conditions. However, there are many medical encumbrances in achieving the most important target: uterus transplantation and childbirth.

Until a few years ago, patients had a real choice of only two controversial options giving a chance for motherhood - surrogacy and adoption. However, modern transplantation has shown that a third option - a uterine transplant - exists and is available and efficient.

To conclude, MRKH syndrome is an extremely rare disorder that is not talked about enough. 1 in 4,500 women suffers from it and it holds a lot of importance. Its severity varies depending on the type and many of its symptoms could possibly be fatal (kidney failure, heart defects, etc.). Despite many issues related to this disorder, modern technology has definitely helped women with MRKH syndrome fulfill their dreams of having their own child, while also living happy and healthy lives!


Written by: Manya Jauhari

Edited by: Svasti Tewari and Sakshi Deshpande


Glossary

  1. Primary amenorrhea: absence of menstruation after the age of 16.

  2. Teratogen: an agent that can disrupt the development of an embryo.

  3. Autosomal: Having to do with any of the 22 numbered pairs of chromosomes found in most human cells

  4. Aplasia: the failure of an organ or tissue to develop or to function normally.

Citations

"Mayer-Rokitansky-Küster-Hauser Syndrome - NORD (National Organization For Rare Disorders)". NORD (National Organization For Rare Disorders), 2022, https://rarediseases.org/rare-diseases/mayer-rokitansky-kuster-hauser-syndrome/.

D, Pluta et al. "Mayer-Rokitansky-Küster-Hauser Syndrome - Case Studies, Methods Of Treatment And The Future Prospects Of Human Uterus Transplantation". Pubmed, 2022, https://pubmed.ncbi.nlm.nih.gov/32016956/.

Georgopapadakos, Nikolaos, et al. "Uterus Transplantation as a Therapy Method in Mayer-Rokitansky-Küster-Hauser Syndrome." Cureus, vol. 11, no. 12, 2019, https://doi.org/10.7759/cureus.6333.


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