Swyer syndrome

Disease Overview

Swyer syndrome is a genetic condition affecting sexual organ development, classified as a disorder of sex development (DSD). In Swyer syndrome, people with one X chromosome and one Y chromosome, normally present in males, are born with female external genitalia and underdeveloped gonads (ovaries or testes) known as streak gonads. Most people with Swyer syndrome are raised as females. Adolescents with this condition do not go through normal puberty and are infertile. Some cases of Swyer syndrome are caused by genetic alterations (mutations) in one of several genes, but in some cases the cause is unknown. The inheritance pattern depends on the responsible gene. This condition is diagnosed based on the chromosome results, clinical examination, and imaging studies. Treatment includes removal of streak gonads to prevent cancer and hormone replacement therapy from puberty onward. While women with Swyer syndrome are infertile, they may become pregnant with the use of donated eggs.[15494][15495][15496]

Synonyms

• 46, XY CGD
• 46, XY complete gonadal dysgenesis
• 46, XY pure gonadal dysgenesis
• Gonadal dysgenesis, XY female type