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

Preferred term

Gonadal Dysgenesis, 46,XX  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Gonadal Dysgenesis, 46, XX
  • Gonadal Dysgenesis, XX Type

Scope note

  • The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.

History note

  • 2002

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URI

http://www.yso.fi/onto/mesh/D023961

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