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... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Urogenital Abnormalities > Disorders of Sex Development > Gonadal Dysgenesis > Gonadal Dysgenesis, 46,XY
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Gonadal Dysgenesis > Gonadal Dysgenesis, 46,XY
... > Urogenital Diseases > Male Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Gonadal Dysgenesis > Gonadal Dysgenesis, 46,XY
Endocrine System Diseases > Gonadal Disorders > Disorders of Sex Development > Gonadal Dysgenesis > Gonadal Dysgenesis, 46,XY
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Urogenital Abnormalities > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Gonadal Dysgenesis, 46,XY
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Gonadal Dysgenesis, 46,XY
... > Urogenital Diseases > Male Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Gonadal Dysgenesis, 46,XY
Endocrine System Diseases > Gonadal Disorders > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Gonadal Dysgenesis, 46,XY

Preferred term

Gonadal Dysgenesis, 46,XY  

Type

  • Topical Descriptor

Broader concept

Narrower concepts

Entry terms

  • 46, XY Gonadal Dysgenesis
  • 46, XY Gonadal Sex Reversal
  • Gonadal Dysgenesis, 46, XY
  • Sex Reversal, Gonadal, 46, XY

Scope note

  • 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.

History note

  • 91(80); was see under GONADAL DYSGENESIS 1980-90

In other languages

  • gonadidysgenesia 46,XY

    Finnish

  • gonadaalinen dysgeneesi, 46,XY
  • gonadidysgeneesi 46,XY
  • gonadien dysgeneesi, 46,XY
  • sukupuolirauhasten kehityshäiriö, 46,XY
  • sukurauhasten kehityshäiriö, 46,XY
  • Gonaddysgenesi, 46,XY

    Swedish

URI

http://www.yso.fi/onto/mesh/D006061

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