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    Mayer-Rokitansky-Küster-Hauser Syndrome

    Important
    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.

    Synonyms

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

    Disorder Subdivisions

    • None

    General Discussion

    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.

    Resources

    MAGIC Foundation
    6645 W. North Avenue
    Oak Park, IL 60302
    Tel: (708)383-0808
    Fax: (708)383-0899
    Tel: (800)362-4423
    Email: mary@magicfoundation.org
    Internet: http://www.magicfoundation.org

    National Kidney Foundation
    30 East 33rd Street
    New York, NY 10016
    Tel: (212)889-2210
    Fax: (212)689-9261
    Tel: (800)622-9010
    Email: info@kidney.org
    Internet: http://www.kidney.org

    NIH/National Kidney and Urologic Diseases Information Clearinghouse
    3 Information Way
    Bethesda, MD 20892-3580
    Fax: (703)738-4929
    Tel: (800)891-5390
    TDD: (866)569-1162
    Email: nkudic@info.niddk.nih.gov
    Internet: http://www.kidney.niddk.nih.gov/

    RESOLVE: National Infertility Association
    1760 Old Meadow Rd
    Suite 500
    McLean, VA 22102
    Tel: (703)556-7172
    Fax: (703)506-3266
    Email: info@resolve.org
    Internet: http://www.resolve.org

    AIS/DSD Support Group for Women and Families
    P.O. Box 2148
    Duncan, OK 73534-2148
    USA
    Email: aissgusa@hotmail.com
    Internet: http://www.aissg.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Accord Alliance
    531 Route 22 East #244
    Whitehouse Station, NJ 08889
    USA
    Tel: (908)349-0534
    Fax: (801)349-0534
    Email: janet.green@accordalliance.org
    Internet: http://www.accordalliance.org

    Beautiful You MRKH Foundation, Inc.
    13010 Pacific Avenue
    Rockville, MD
    USA
    Tel: (765)337-8683
    Email: bymrkh@gmail.com
    Internet: http://www.beautifulyoumrkh.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    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.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 7/4/2014
    Copyright 1996, 2003, 2011, 2014 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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