National Organization for Rare Disorders, Inc.
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.
- 46, XY CGD
- 46, XY Complete Gonadal Dysgenesis
- 46, XY Pure Gonadal Dysgenesis
- Gonadal Dysgenesis, XY Female Type
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 or a 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 to a few different genes are known to cause Swyer syndrome. Swyer syndrome usually occurs as a random event, but, in rare cases, can also be inherited in an autosomal dominant, autosomal recessive, X-linked or Y-linked manner.
National Infertility Association
7910 Woodmont Avenue
Bethesda, MD 208814
Androgen Insensitivity Syndrome Support Group (AISSG)
P.O. Box 2148
Duncan, OK 73534-2148
4301 Connecticut Avenue NW
Washington, DC 20008-2369
Intersex Society of North America
979 Golf Course Drive #282
Rohnert Park, CA 94928
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
398 Columbus Avenue #294
Boston, MA 02116-6008
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This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html