Swyer Syndrome Overview
Learn About Swyer Syndrome
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.
Margarett Shnorhavorian is an Urologist and a Pediatrics provider in Seattle, Washington. Dr. Shnorhavorian and is rated as an Advanced provider by MediFind in the treatment of Swyer Syndrome. Her top areas of expertise are Exstrophy of the Bladder, Intersex, Hypospadias, Congenital Adrenal Hyperplasia (CAH), and Lithotripsy. Dr. Shnorhavorian is currently accepting new patients.
Patricia Fechner is a Pediatric Endocrinologist and an Endocrinologist in Seattle, Washington. Dr. Fechner and is rated as an Advanced provider by MediFind in the treatment of Swyer Syndrome. Her top areas of expertise are Intersex, Congenital Adrenal Hyperplasia (CAH), Turner Syndrome, and Pediatric Growth Hormone Deficiency. Dr. Fechner is currently accepting new patients.
Margaret Adam is a Medical Genetics specialist and a Pediatrics provider in Seattle, Washington. Dr. Adam and is rated as an Experienced provider by MediFind in the treatment of Swyer Syndrome. Her top areas of expertise are Fetal Alcohol Syndrome (FAS), 1p36 Deletion Syndrome, Intersex, and Kabuki Syndrome.
Summary: Turner syndrome affects 1/2500 female newborns. It is characterized by a short stature, gonadal dysgenesis and bone anomalies. It is secondary to X chromosome abnormality. The clinical course can be marked by various complications, including degeneration of gonadal streaks into cancer (gonadoblastoma). The risk of gonadoblastoma is increased by the presence of Y chromosome, with a risk of 19 to 43...
Published Date: February 25, 2022
Published By: National Institutes of Health