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Mayer-Rokitansky-Küster-Hauser Syndrome

What is Mayer-Rokitansky-Küster-Hauser Syndrome?

 

Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is a rare condition characterized by the failure of the uterus and the vagina to develop properly in women with normal ovarian function and normal external genitalia. It occurs during fetal development and in approximately 1 in every 4,500 females at birth. MRKH syndrome gained its name from the four authors that published original descriptions over a 130-year period, including German anatomist August Franz Josef Karl Mayer (1829), Austrian anatomist Carl von Rokitansky (1838), German gynecologist Hermann Kuester (1910), and Swiss gynecologist George Andre Hauser (1961). 

As a result of having absent or underdeveloped reproductive organs, women with MRKH syndrome typically do not have a menstrual cycle during puberty and tend to suffer from Uterine Factor Infertility (UFI). Women with UFI are unable to carry a pregnancy due to the absence or dysfunction of a uterus. Individuals with MRKH syndrome still have normally-functioning ovaries and a female chromosome pattern, their external genitalia and secondary sexual characteristics, such as pubic hair and breasts, develop normally. The symptoms and severity of MRKH syndrome varies across individuals and is generally broken down into type I and type II. While in type I, only the uterus and upper vagina are abnormal, in type II abnormalities occur in other organ systems including the fallopian tubes, kidneys and spine. The exact cause of MRKH syndrome remains largely unknown, but increasing evidence suggests that it may be a genetic disorder. There are surgical and non-surgical treatment options available for women affected by MRKH syndrome.

 

 

Synonyms

  • Müllerian aplasia
  • Congenital absence of the uterus and vagina
  • genital renal ear syndrome

 

Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is a rare condition characterized by the failure of the uterus and the vagina to develop properly in women with normal ovarian function and normal external genitalia. It occurs during fetal development and in approximately 1 in every 4,500 females at birth. MRKH syndrome gained its name from the four authors that published original descriptions over a 130-year period, including German anatomist August Franz Josef Karl Mayer (1829), Austrian anatomist Carl von Rokitansky (1838), German gynecologist Hermann Kuester (1910), and Swiss gynecologist George Andre Hauser (1961). 

As a result of having absent or underdeveloped reproductive organs, women with MRKH syndrome typically do not have a menstrual cycle during puberty and tend to suffer from Uterine Factor Infertility (UFI). Women with UFI are unable to carry a pregnancy due to the absence or dysfunction of a uterus. Individuals with MRKH syndrome still have normally-functioning ovaries and a female chromosome pattern, their external genitalia and secondary sexual characteristics, such as pubic hair and breasts, develop normally. The symptoms and severity of MRKH syndrome varies across individuals and is generally broken down into type I and type II. While in type I, only the uterus and upper vagina are abnormal, in type II abnormalities occur in other organ systems including the fallopian tubes, kidneys and spine. The exact cause of MRKH syndrome remains largely unknown, but increasing evidence suggests that it may be a genetic disorder. There are surgical and non-surgical treatment options available for women affected by MRKH syndrome.

 

Acknowledgement of Mayer-Rokitansky-Küster-Hauser Syndrome has not been added yet.

MRKH syndrome occurs in approximately 1 in every 4,000-5,000 females at birth. However, evidence suggests it is likely underdiagnosed making its exact prevalence hard to determine in the general population. It is the second most common cause of primary amenorrhea and is often not identified until early adolescence. Although MRKH syndrome only affects females by definition, recent research has noted similar symptoms presenting in males. Affected males have presented absence or underdevelopment of the Wolffian duct, which is an organ present in a developing embryo that eventually develops into certain structures including the vas deferens (tube connecting the testes and urethra). They may also have lower sperm counts in their semen (azoospermia), kidney abnormalities, spinal malformations, hearing problems and other physical conditions. 

 

Name Abbreviation
Müllerian aplasia MA
Congenital absence of the uterus and vagina CAUV
genital renal ear syndrome GRES

There is no single cause for MRKH syndrome and it remains unclear. However, in recent years, there is increasing evidence to suggest that MRKH syndrome is a genetic disorder. 

 

Typically, the most common and initial sign of MRKH syndrome is a lack of menstrual cycle (primary amenorrhea). However, the two types of MRKH syndrome can have varying symptoms. These include:

  • Type I: The main feature is the absence or underdevelopment of the uterus and upper vagina. All other organs are unaffected. Symptoms typically include: diminished vaginal depth and width, painful sexual intercourse.

  • Type II: Other organs are affected and symptoms therefore include: kidney issues, skeletal malformations, some hearing loss, heart defects.

Individuals affected by MRKH syndrome will typically receive a diagnosis following a physician’s appointment to address their lack of period (primary amenorrhea). The physician will conduct a physical examination and may use an ultrasound to identify any cervix or uterus. In type II, individuals may receive more testing in response to problems with other areas of the body, including kidney and spinal issues.

Following a physical examination, the following tests may be performed to explore the issue and confirm the diagnosis:

  • Ultrasound

  • MRI

  • Additional tests concerning any other organs affected (eg type II MRKH syndrome)

As this is a complex condition, treatment may require several options. These options may be surgical and nonsurgical procedures, which depend on the individual’s symptoms and preferences. 

Surgical treatments include:

  • Vaginoplasty - A surgery to create a functioning vagina.

  • Uterus transplant

Nonsurgical treatments include:

  • Self-dilation - This self-administered treatment involves the affected individual using a series of incrementally larger dilators (small, round rods) to dilate or expand her existing vagina, which typically occurs over the course of several months.

  • Vaginal dilation through intercourse - In some cases, individuals with MRKH syndrome may find frequent intercourse helpful in expanding their existing vaginas over time. However, this may cause discomfort and bleeding, when not efficiently lubricated. 

Individuals with MRKH syndrome can lead normal lives, but with the exception of intercourse and conceiving children naturally. With certain treatments, it is possible for individuals with MRKH syndrome to undergo corrective surgery or treatments to reduce any vaginal pain and even conceive children. Most women will still have functioning ovaries with eggs, which makes in vitro fertilization a possible option for having children. Individuals with type II may find that their treatment requires more specialists depending on the severity of any other organ complications (e.g. kidney, spinal issues). 

 

Tips or Suggestions of Mayer-Rokitansky-Küster-Hauser Syndrome has not been added yet.

Baptist Health. What is MRKH? 2020. Available from: https://www.baptisthealth.com/services/womens-care/conditions/mrkh-syndrome 

National Organization for Rare Disorders. Mayer-Rokitansky-Kuester-Hauser Syndrome. 2014. Available from: https://rarediseases.org/rare-diseases/mayer-rokitansky-kuster-hauser-syndrome/

Penn Medicine. Mayer-Rokitansky-Kuester-Hauser (MRKH) Syndrome. 2020. Available from: https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/mayer-rokitansky-kuster-hauser-mrkh-syndrome

Seattle Children’s Hospital: Patient and Family Education. MRKH Syndrome. N.d. Available from: https://www.seattlechildrens.org/pdf/pe1265.pdf

Community Details Update Created by RareshareTeam
Last updated 17 Feb 2021, 01:25 AM

Posted by RareshareTeam
17 Feb 2021, 01:25 AM

Hi everyone,

The Mayer-Rokitansky-Kuster-Hauser Syndrome community details have been updated. We added more information about the cause, prevalence, symptoms, diagnosis, and treatment. Hopefully, you find it helpful!

e-mail. Created by shiny9
Last updated 12 Feb 2011, 06:57 PM

Posted by shiny9
12 Feb 2011, 06:57 PM

Hi!! My nickname is Shiny, as you can see. I am from Latvia, I live in Europe. I found that I have this syndrom in last year. I had an operation and before it she told me, that I have this syndrom. I really want to talk with someone about this, share my experience, and know about yours. My email is shiny9@inbox.lv Write to me, lets make a chat about this. ;)

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Living with MRKH!!!

*Hi,My name is MAlinda Im 20yrs old and I found out at 16yrs old i have Mullerian Agenesis. I love kids and have always wanted to have kids,thats why Im on here to find people that are like me so I...
Mom to daughter with MRKH

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Community Details Update

Created by RareshareTeam | Last updated 17 Feb 2021, 01:25 AM

e-mail.

Created by shiny9 | Last updated 12 Feb 2011, 06:57 PM


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