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.
- congenital absence of the uterus and vagina (CAUV)
- genital renal ear syndrome (GRES)
- MRKH syndrome
- Mullerian agenesis
- Mullerian aplasia
- Rokitansky syndrome
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.
AIS-DSD Support Group
- P.O. Box 2148
- Duncan, OK 73534-2148
- Email: firstname.lastname@example.org
- Website: http://www.aisdsd.org
- 531 Route 22 East #244
- Whitehouse Station, NJ 8889
- Tel: (908)349-0534
- Fax: (801)349-0534
- Email: email@example.com
- Website: http://www.accordalliance.org
Beautiful You MRKH Foundation, Inc.
- 3811 Woodridge Ave.
- Silver Spring, MD 20902
- Tel: 765-337-8683
- Email: firstname.lastname@example.org
- Website: http://www.beautifulyoumrkh.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
- Website: http://rarediseases.info.nih.gov/GARD/
- 6645 W. North Avenue
- Oak Park, IL 60302
- Tel: (708)383-0808
- Fax: (708)383-0899
- Tel: (800)362-4423
- Email: email@example.com
- Website: http://www.magicfoundation.org
NIH/National Kidney and Urologic Diseases Information Clearinghouse
- 3 Information Way
- Bethesda, MD 20892-3580
- Fax: (703)738-4929
- Tel: (800)891-5390
- Email: firstname.lastname@example.org
- Website: http://www.kidney.niddk.nih.gov/
National Kidney Foundation
- 30 East 33rd Street
- New York, NY 10016
- Tel: (212)889-2210
- Fax: (212)689-9261
- Tel: (800)622-9010
- Email: email@example.com
- Website: http://www.kidney.org
RESOLVE: National Infertility Association
- 1760 Old Meadow Rd
- Suite 500
- McLean, VA 22102
- Tel: (703)556-7172
- Fax: (703)506-3266
- Email: firstname.lastname@example.org
- Website: http://www.resolve.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 email@example.com
Last Updated: 1/24/1970
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