Number of the records: 1  

dysgenéza gonadálna, 46,XY

  1. Record numberd006061
    Date06.06.2025
    TypeM
    Topical termdysgenéza gonadálna, 46,XY
    Other termEnglish (Pseudonym) Swyer Syndrome
    Slovak (Pseudonym) 46, XY gonadálna dysgenéza
    Slovak (Pseudonym) 46, XY gonádová dysgenéza
    Slovak (Pseudonym) 46, XY dysgenéza gonád
    Slovak (Pseudonym) 46, XY gonadálny zvrat pohlavia
    Slovak (Pseudonym) 46, XY gonadálny pohlavný zvrat
    Slovak (Pseudonym) 46, XY gonádový zvrat pohlaví
    Slovak (Pseudonym) 46,XY kompletná gonadálna dysgenéza
    Slovak (Pseudonym) 46,XY totálna gonádová dysgenéza
    Slovak (Pseudonym) dysgenéza gonadálna kompletná, 46,XY
    Slovak (Pseudonym) dysgenéza gonádová, 46,XY
    Slovak (Pseudonym) dysgenéza gonadálna čistá, 46,XY
    Slovak (Pseudonym) dysgenéza gonád, čistá, 46,XY
    Slovak (Pseudonym) XY čistá gonadálna dysgenéza
    Slovak (Pseudonym) zvrat pohlavia, gonadálny, 46, XY
    Slovak (Pseudonym) Swyerov syndróm
    UDCC12.050.351.875.253.096.687C12.050.351.875.253.309.388C12.200.706.316.096.687C12.200.706.316.309.388C12.800.316.096.687C12.800.316.309.388C16.131.939.316.096.687C16.131.939.316.309.388C19.391.119.096.687C19.391.119.309.388
    NoteDefects 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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Number of the records: 1  

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