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dysgenéza gonadálna, 46,XY

  1. Subject h.dysgenéza gonadálna, 46,XY
    Subject h.Gonadal Dysgenesis, 46,XY
    Entry terms46, XY gonadálna dysgenéza
    46, XY gonádová dysgenéza
    46, XY dysgenéza gonád
    46, XY gonadálny zvrat pohlavia
    46, XY gonadálny pohlavný zvrat
    46, XY gonádový zvrat pohlaví
    46,XY kompletná gonadálna dysgenéza
    46,XY totálna gonádová dysgenéza
    dysgenéza gonadálna kompletná, 46,XY
    dysgenéza gonádová, 46,XY
    dysgenéza gonadálna čistá, 46,XY
    dysgenéza gonád, čistá, 46,XY
    XY čistá gonadálna dysgenéza
    zvrat pohlavia, gonadálny, 46, XY
    Swyerov syndróm
    English X referencesSwyer Syndrome
    Scope note in EnglishDefects 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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