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Disease Gonadal Dysgenesis, 46,XX

Name Gonadal Dysgenesis, 46,XX
Synonyms Gonadal Dysgenesis, 46, XX | Gonadal Dysgenesis, XX Type | Pure Gonadal Dysgenesis, 46,XX | Pure Gonadal Dysgenesis, 46, XX
Definition 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.
Categories Congenital abnormality | Endocrine system disease | Urogenital disease (female) | Urogenital disease (male)
MeSH® ID D023961
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Top ↑ Ancestors

1. DiseasesMale Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urogenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes 46, XX Disorders of Sex Development Has associated chemicals Has associated genes Gonadal Dysgenesis, 46,XX Has associated chemicals Has associated genes
2. DiseasesMale Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urogenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes Gonadal Dysgenesis Has associated chemicals Has associated genes Gonadal Dysgenesis, 46,XX Has associated chemicals Has associated genes
3. DiseasesFemale Urogenital Diseases and Pregnancy Complications Has associated chemicals Has associated genes Has associated exposure references Female Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urogenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes 46, XX Disorders of Sex Development Has associated chemicals Has associated genes Gonadal Dysgenesis, 46,XX Has associated chemicals Has associated genes
4. DiseasesFemale Urogenital Diseases and Pregnancy Complications Has associated chemicals Has associated genes Has associated exposure references Female Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urogenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes Gonadal Dysgenesis Has associated chemicals Has associated genes Gonadal Dysgenesis, 46,XX Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Urogenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes 46, XX Disorders of Sex Development Has associated chemicals Has associated genes Gonadal Dysgenesis, 46,XX Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Urogenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes Gonadal Dysgenesis Has associated chemicals Has associated genes Gonadal Dysgenesis, 46,XX Has associated chemicals Has associated genes
7. DiseasesEndocrine System Diseases Has associated chemicals Has associated genes Has associated exposure references Gonadal Disorders Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes 46, XX Disorders of Sex Development Has associated chemicals Has associated genes Gonadal Dysgenesis, 46,XX Has associated chemicals Has associated genes
8. DiseasesEndocrine System Diseases Has associated chemicals Has associated genes Has associated exposure references Gonadal Disorders Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes Gonadal Dysgenesis Has associated chemicals Has associated genes Gonadal Dysgenesis, 46,XX Has associated chemicals Has associated genes

Top ↑ Descendants

Gonadal Dysgenesis, 46,XX Has associated chemicals Has associated genes
  46,XX Gonadal dysgenesis epibulbar dermoid
  46,Xx Gonadal Dysgenesis, Partial Or Complete, Autosomal
  46,XX SEX REVERSAL 1 Has associated chemicals Has associated genes
  46,XX SEX REVERSAL 2
  46,XX SEX REVERSAL 3
  Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis
View node Gonadal dysgenesis XX type deafness Has associated chemicals Has associated genes