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Genetics Home Reference: Mayer-Rokitansky-Küster-Hauser syndrome

Posted May 24 2010 12:51pm
Reviewed May 2010

What is Mayer-Rokitansky-Küster-Hauser syndrome?

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea). Women with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal female external genitalia and normal breast and pubic hair development. Although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction.

Women with MRKH syndrome may also have abnormalities in other parts of the body. The kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome may also have hearing loss or heart defects.

How common is Mayer-Rokitansky-Küster-Hauser syndrome?

MRKH syndrome affects approximately 1 in 4,500 newborn girls.

What genes are related to Mayer-Rokitansky-Küster-Hauser syndrome?

The cause of MRKH syndrome is unknown, although it probably results from a combination of genetic and environmental factors. Researchers have not identified any genes associated with MRKH syndrome.

The reproductive abnormalities of MRKH syndrome are due to incomplete development of the Müllerian duct. This structure in the embryo develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. The cause of the abnormal development of the Müllerian duct in affected individuals in unknown. Originally, researchers believed that MRKH syndrome was caused by something the fetus was exposed to during pregnancy, such as a medication or maternal illness. However, studies have not identified an association with maternal drug use, illness, or other factors. It is also unclear why some affected individuals have abnormalities in parts of the body other than the reproductive system.

How do people inherit Mayer-Rokitansky-Küster-Hauser syndrome?

Most cases of MRKH syndrome occur in people with no history of the disorder in their family.

Less often, MRKH syndrome is passed through generations in families. Its inheritance pattern is usually unclear because the signs and symptoms of the condition frequently vary among affected individuals in the same family. However, in some families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is typically sufficient to cause the disorder, although no genes have been associated with MRKH syndrome.

Where can I find information about diagnosis, management, or treatment of Mayer-Rokitansky-Küster-Hauser syndrome?

These resources address the diagnosis or management of Mayer-Rokitansky-Küster-Hauser syndrome and may include treatment providers.

You might also find information on the diagnosis or management of Mayer-Rokitansky-Küster-Hauser syndrome in Educational resources and Patient support .

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about Mayer-Rokitansky-Küster-Hauser syndrome?

You may find the following resources about Mayer-Rokitansky-Küster-Hauser syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • PubMedThis link leads to a site outside Genetics Home Reference. - Recent literature
  • OMIM - Genetic disorder catalog (2 links)

What other names do people use for Mayer-Rokitansky-Küster-Hauser syndrome?

  • congenital absence of the uterus and vagina (CAUV)
  • genital renal ear syndrome (GRES)
  • MRKH syndrome
  • Mullerian aplasia
  • Mullerian dysgenesis

What if I still have specific questions about Mayer-Rokitansky-Küster-Hauser syndrome?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding Mayer-Rokitansky-Küster-Hauser syndrome?

agenesis  ; autosomal  ; autosomal dominant  ; cell  ; chromosome  ; congenital  ; duct  ; dysgenesis  ; embryo  ; fetus  ; gene  ; genitalia  ; inheritance  ; inheritance pattern  ; kidney  ; maternal  ; menstruation  ; ovary  ; pattern of inheritance  ; renal  ; reproduction  ; sign  ; symptom  ; syndrome  ; unilateral  ; vertebra

You may find definitions for these and many other terms in the Genetics Home Reference Glossary .

See also Understanding Medical Terminology .

References (4 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

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