Swyer syndrome

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 ...1

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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 Symptoms

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Genetics of Swyer syndrome

Genetic Changes: 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 ...2

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Treatments: Swyer syndrome

Treatment: 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) ...3

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Names and Terminology

Other Names for This Condition

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  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ swyer-syndrome
  2. ibid.
  3. 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.