XY gonadal dysgenesis

XY gonadal dysgenesis
Other names	Swyer syndrome
Protein SRY
Specialty	Medical genetics

XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas,^[1] the person has underdeveloped gonads, fibrous tissue termed "streak gonads", and if left untreated, will not experience puberty. The cause is a lack or inactivation of an SRY gene which is responsible for sexual differentiation. Pregnancy is sometimes possible in Swyer syndrome with assisted reproductive technology.^[2][3][4] The phenotype is usually similar to Turner syndrome (45,X0) due to a lack of X inactivation. The typical medical treatment is hormone replacement therapy.^[5] The syndrome was named after Gerald Swyer, an endocrinologist based in London.