XY gonadal dysgenesis
GONADAL DYSGENESIS THAT IS CHARACTERIZED BY A NORMAL 46,XY KARYOTYPE ALONG WITH A PROGRESSIVE LOSS OF GERM CELLS ON THE DEVELOPING GONADS OF AN EMBRYO
Swyer's syndrome; XY Female; XY female syndrome; Gonadal dysgenesis, 46,xy; Gonadal dysgenesis, XY female type; Swyer syndrome; XY female
XY gonadal dysgenesis, also known as Swyer syndrome, is a type of hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal female external genitalia, the person has functionless gonads, fibrous tissue termed "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.