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Gonadal Dysgenesis, 46,XY

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.

Year introduced: 1991(1980)

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Tree Number(s): C12.050.351.875.253.096.687, C12.050.351.875.253.309.388, C12.200.706.316.096.687, C12.200.706.316.309.388, C12.800.316.096.687, C12.800.316.309.388, C16.131.939.316.096.687, C16.131.939.316.309.388, C19.391.119.096.687, C19.391.119.309.388

MeSH Unique ID: D006061

Entry Terms:

  • 46, XY Gonadal Dysgenesis
  • 46, XY Gonadal Sex Reversal
  • Gonadal Dysgenesis, 46, XY
  • Sex Reversal, Gonadal, 46, XY
  • Swyer Syndrome
  • Syndrome, Swyer
  • Complete Gonadal Dysgenesis, 46, XY
  • Pure Gonadal Dysgenesis, 46, XY
  • 46,XY Complete Gonadal Dysgenesis
  • XY Pure Gonadal Dysgenesis
  • Pure Gonadal Dysgenesis 46,XY

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