Swyer syndrome

(redirected from XY gonadal dysgenesis)
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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.
References in periodicals archive ?
A case report of successful pregnancy in a patient with pure 46, XY gonadal dysgenesis.
In a family with mutation in SRY, there was a wide spectrum of XY gonadal dysgenesis manifestation, varying from partial to complete forms [28].
Palandi de Mello, "Complete XY gonadal dysgenesis due to p.
For patients with XY gonadal dysgenesis, this means earlier detection and treatment of tumors.
30) E1-Shanti et al found a new syndrome in 5 patients from two separate families who had laryngomalacia, XY gonadal dysgenesis, and alopecia universalis congenita.