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

Terme préférentiel

Gonadal Dysgenesis, 46,XX  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Synonyme(s)

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

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-DWR914QT-G

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RDF/XML TURTLE JSON-LD Date de création 03/08/2001, dernière modification le 30/06/2021