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Swyer syndrome
Other Names for this Disease
- 46, XY CGD
- 46, XY complete gonadal dysgenesis
- 46, XY pure gonadal dysgenesis
- Gonadal dysgenesis, XY female type
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Overview
Swyer syndrome is a condition in which individuals with one X chromosome and one Y chromosome in each cell, the pattern normally found in males, have a female appearance. Those with Swyer syndrome are typically raised as females and have a female gender identity. People with this condition have female external genitalia and a normal uterus and Fallopian tubes. However, they do not have functional gonads (ovaries or testes). Instead, they have undeveloped clumps of tissue, called streak gonads. These abnormal gonads often become cancerous, so they are usually surgically removed early in life. The genes known to cause this condition include the DHH, NR0B1, NR5A1, and SRY genes. Swyer syndrome has different patterns of inheritance depending on the underlying cause.[1]
References
- Swyer syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/swyer-syndrome. Accessed June 10, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center3 question(s) from the public on Swyer syndrome have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Swyer syndrome. Click on the link to go to GHR and review the information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Swyer syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Swyer syndrome. Click on the link to go to OMIM and review these resources.