XY gonadal dysgenesis

XY gonadal dysgenesis, also known as Swyer syndrome, is a type of hypogonadism in a person whose karyotype is 46,XY. They typically have normal female external genitalia, identify as female, and are raised as girls. XY gonadal dysgenesis, also known as Swyer syndrome, is a type of hypogonadism in a person whose karyotype is 46,XY. They typically have normal female external genitalia, identify as female, and are raised as girls. The person is externally female with streak gonads, and if left untreated, will not experience puberty. Such gonads are typically surgically removed (as they have a significant risk of developing cancer). The typical medical treatment is hormone replacement therapy.The syndrome was named after Gerald Swyer, an endocrinologist, based in London. People with Swyer syndrome are born with the appearance of a normal female in most anatomic respects except that the child has nonfunctional streak gonads instead of ovaries or testes. As their ovaries produce no important body changes before puberty, a defect of the reproductive system typically remains unsuspected until puberty fails to occur. They appear to be normal girls and are generally considered so.