Denna könskörteldefekt kännetecknas av en kvinnlig fenotyp, normal eller hög kroppsväxt, aplastiska eller icke-funktionella könskörtlar och 46XY-karyotyp. Denna dysgenesi är ett heterogent tillstånd med varierande former till följd av en strukturell avvikelse på Y-kromosomen, mutation av SRY-genen eller mutation av autosomala gener. Syndromet kallas ibland "ren gonaddysgenesi", men denna benämning kan också avse gonaddysgenesi med en 46XX-karyotyp.
Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.
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Sex Reversal, Gonadal, 46, XY — Gonadal Dysgenesis, 46, XY — 46, XY Gonadal Dysgenesis — 46, XY Gonadal Sex Reversal — Swyer Syndrome — Syndrome, Swyer — Pure Gonadal Dysgenesis 46,XY — 46,XY Complete Gonadal Dysgenesis — XY Pure Gonadal Dysgenesis — Complete Gonadal Dysgenesis, 46, XY — Pure Gonadal Dysgenesis, 46, XY