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Diseases

Genetic and Rare Diseases Information Center (GARD)

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Swyer syndrome is a condition in which people with one X chromosome one Y chromosome (normally present in males) have a female appearance. People with Swyer syndrome are typically raised as females, have a female gender identity, have typical female external genitalia, and have a normal uterus and Fallopian tubes. However in place of functional gonads (ovaries or testes), they have undeveloped, residual gonadal tissue called streak gonads. Streak gonads often become cancerous, so they are usually surgically removed as early as possible. Swyer syndrome may be caused by mutations in any of several genes. The inheritance pattern depends on the responsible gene.[1][2] In addition to removal of streak gonads, treatment may include hormone replacement therapy from puberty onward. While women with Swyer syndrome are infertile, they may become pregnant with the use of donated eggs.[3]
Last updated: 11/16/2015

References

  1. Swyer syndrome. Genetics Home Reference. March, 2015; http://ghr.nlm.nih.gov/condition/swyer-syndrome.
  2. Salete Da Silva Rios, et. al. A Case of Swyer Syndrome Associated with Advanced Gonadal Dysgerminoma Involving Long Survival. Case Rep Oncol. January-April, 2015; 8(1):179-184.
  3. Swyer syndrome. NORD. 2012; https://rarediseases.org/rare-diseases/swyer-syndrome/.
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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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.
Other Names for this Disease
  • 46, XY CGD
  • 46, XY complete gonadal dysgenesis
  • 46, XY pure gonadal dysgenesis
  • Gonadal dysgenesis, XY female type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.