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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Mayer-Rokitansky-Kuster-Hauser syndrome


Other Names for this Disease

  • CAUV
  • Congenital absence of the uterus and vagina
  • Genital renal ear syndrome
  • GRES syndrome
  • Mayer Rokitansky Kuster Hauser syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. This is often the first noticeable sign of the condition. 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.[1]

Some women with MRKH syndrome 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 may also develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome may also have hearing loss or heart defects.[1]

Last updated: 6/14/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Mayer-Rokitansky-Kuster-Hauser syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of female internal genitalia 90%
Abnormal form of the vertebral bodies 7.5%
Abnormal localization of kidney 7.5%
Abnormality of the sacrum 7.5%
Renal hypoplasia/aplasia 7.5%
Amenorrhea -
Aplasia of the vagina -
Autosomal dominant inheritance -
Autosomal recessive inheritance -
Hypoplasia of the uterus -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Mayer-Rokitansky-Küster-Hauser syndrome. Genetics Home Reference (GHR). May 2010; http://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome. Accessed 6/13/2011.


Other Names for this Disease
  • CAUV
  • Congenital absence of the uterus and vagina
  • Genital renal ear syndrome
  • GRES syndrome
  • Mayer Rokitansky Kuster Hauser syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.