Swyer syndrome

(redirected from Gonadal dysgenesis, 46,xy)

Swyer syndrome

(swī'ĕr),
gonadal dysgenesis in phenotypic females with XY genotype.

Swyer syndrome

(swī'ĕr),
gonadal dysgenesis in phenotypic females with XY genotype.

Swyer syndrome

A condition (OMIM:400044) characterised by male-to-female sex reversal in the presence of a normal 46,XY karyotype. The (male) gonads undergo rapid and early degeneration, which appear in the adult as “streak gonads” consisting mainly of fibrous tissue and ovarian stroma; the patients do not develop secondary sexual characteristics at puberty. Their external genitalia is completely female, and Müllerian structures are normal.

Molecular pathology
Defects of SRY, which encodes testis-determining factor, cause Swyer syndrome.

Swy·er syn·drome

(swī'ĕr sin'drōm)
Gonadal dysgenesis in phenotypic females with XY genotype.