Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup.
People usually have 46 chromosomes in each cell
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Symptoms of Swyer syndrome
Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and SymptomsMore Symptoms of Swyer syndrome »
Genetics of Swyer syndrome
Mutations in the SRY gene have been identified in approximately 15 percent of individuals with Swyer syndrome . The SRY gene, located on the Y chromosome, provides instructions for making the sex-determining region Y protein. This protein is
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Treatments: Swyer syndrome
The treatment of a person with Swyer syndrome may depend on the specific characteristics that each person has. Some people need surgery to repair the external genitalia and to create and/or enlarge the vagina. Hormone replacement therapy (HRT)
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Names and Terminology
Other Names for This Condition
- 46,XY CGD
- 46,XY complete gonadal dysgenesis
- 46,XY sex reversal
- gonadal dysgenesis, 46,XY
- gonadal dysgenesis, XY female ...
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- Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ swyer-syndrome
- Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5068/ swyer-syndrome
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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.