Swyer syndrome
Swyer syndrome
(swī'ĕr),Swyer syndrome
(swī'ĕr),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.