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.
RESOLVE: National Infertility Association
1760 Old Meadow Rd
McLean, VA 22102
Androgen Insensitivity Syndrome Support Group
P.O. Box 2148
Duncan, OK 73534-2148
4301 Connecticut Avenue NW
Washington, DC 20008-2369
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
531 Route 22 East #244
Whitehouse Station, NJ 08889