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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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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]
Last updated: 6/10/2011


  1. Swyer syndrome. Genetics Home Reference. December 2008; Accessed 6/10/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Swyer syndrome. This website is maintained by the National Library of Medicine.
  • 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.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.