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.
Inas Mazen practices in Cairo, Egypt. Mazen is rated as an Elite expert by MediFind in the treatment of Swyer Syndrome. She is also highly rated in 13 other conditions, according to our data. Her top areas of expertise are Swyer Syndrome, Intersex, Turner Syndrome, and Persistent Mullerian Duct Syndrome.
Anu Bashamboo practices in Paris, France. Bashamboo is rated as an Elite expert by MediFind in the treatment of Swyer Syndrome. She is also highly rated in 13 other conditions, according to our data. Her top areas of expertise are Intersex, Swyer Syndrome, Turner Syndrome, and Anorchia.
Berenice Mendonca practices in Sao Paolo, Brazil. Mendonca is rated as a Distinguished expert by MediFind in the treatment of Swyer Syndrome. She is also highly rated in 41 other conditions, according to our data. Her top areas of expertise are Intersex, Hypopituitarism, Precocious Puberty, and Turner Syndrome.
Published Date: February 25, 2022Published By: National Institutes of Health