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Swyer syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Swyer 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

  • 46, XY CGD
  • 46, XY complete gonadal dysgenesis
  • 46, XY pure gonadal dysgenesis
  • gonadal dysgenesis, XY female type

Disorder Subdivisions

  • None

General Discussion

Swyer syndrome is a rare disorder characterized by the failure of the sex glands (i.e., testicles or ovaries) to develop. Swyer syndrome is classified as a disorder of sex development (DSD), which encompasses any disorder in which chromosomal, gonadal or anatomic sex development is abnormal. Girls with Swyer syndrome have an XY chromosomal makeup (as boys normally do) instead of an XX chromosomal makeup (as girls normally do). Despite having the XY chromosomal makeup, girls with Swyer syndrome look female and have functional female genitalia and structures including a vagina, uterus and fallopian tubes.

Girls with Swyer syndrome lack sex glands (ovaries). Instead of sex glands, women with Swyer syndrome have "gonadal streaks", in which the ovaries do not develop properly (aplasia) and are replaced by functionless scar (fibrous) tissue. Because they lack ovaries, girls with Swyer syndrome do not produce sex hormones and will not undergo puberty (unless treated with hormone replacement therapy). Mutations in several different genes are known to cause Swyer syndrome. This condition can occur as the result of a new gene mutation or can be inherited in an autosomal dominant, autosomal recessive, X-linked or Y-linked manner.

Resources

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

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:  5/29/2012
Copyright  2008, 2012 National Organization for Rare Disorders, Inc.

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