Swyer syndrome is a condition that affects sex development. Sex development usually follows a particular path based on an individual's chromosomes; however, in Swyer syndrome, sex development is not typical for the affected individual's chromosomal pattern.
In many individuals with Swyer syndrome, the cause is unknown. However, variants (also known as mutations) in one of several genes have been found to cause the condition in some affected individuals.
Swyer syndrome occurs in approximately 1 in 80,000 people.
Most cases of Swyer syndrome are not inherited; they occur in people with no history of the condition in their family. These cases often result from new (de novo) variants in a gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Noninherited cases can rarely result from nongenetic causes.
Published Date: February 25, 2022Published By: National Institutes of Health