Swyer syndrome

Swyer syndrome

(swī'ĕr),

gonadal dysgenesis in phenotypic females with XY genotype.

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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.