National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Mayer-Rokitansky-Küster-Hauser Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- MRKH syndrome
- Rokitansky syndrome
- Mullerian agenesis
- Mullerian aplasia
- congenital absence of the uterus and vagina (CAUV)
- genital renal ear syndrome (GRES)
- Mayer-Rokitansky-Kuster-Hauser syndrome type I
- isolated Mullerian aplasia
- Rokitansky sequence
- Mayer-Rokitansky-Kuster-Hauser syndrome type II
- MUllerian duct aplasia-Renal dysplasia-Cervical Somite anomalies Assoc.
- MURCS association
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder that affects women. It is characterized by the failure of the uterus and the vagina to develop properly in women who have normal ovarian function and normal external genitalia. Women with this disorder develop normal secondary sexual characteristics during puberty (e.g., breast development and pubic hair), but do not have a menstrual cycle (primary amenorrhea). Often, the failure to begin the menstrual cycle is the initial clinical sign of MRKH syndrome. The range and severity of MRKH syndrome can vary greatly and the disorder is generally broken down into type I, which occurs as an isolated finding, and type II, which occurs with abnormalities of additional organ systems including mainly the kidneys and the skeleton. Because of the nature of the disorder, MRKH syndrome can cause significant psychological challenges and counseling is recommended. The exact cause of MRKH syndrome remains largely unknown, but there is now no doubt of a genetic origin. In this respect, an update on the most recent research publications shows the involvement of several chromosomal segments, some of them including genes likely to account for the disorder.
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RESOLVE: National Infertility Association
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AIS/DSD Support Group for Women and Families
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
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Last Updated: 6/10/2011
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