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Disease Gonadal Dysgenesis, 46,XY

Name Gonadal Dysgenesis, 46,XY
Synonyms 46,XY Complete Gonadal Dysgenesis | 46, XY Gonadal Dysgenesis | 46, XY Gonadal Sex Reversal | Complete Gonadal Dysgenesis, 46, XY | Gonadal Dysgenesis, 46, XY | Pure Gonadal Dysgenesis 46,XY | Pure Gonadal Dysgenesis, 46, XY | Sex Reversal, Gonadal, 46, XY | Swyer Syndrome | Syndrome, Swyer | XY Pure Gonadal Dysgenesis
Definition 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.
Categories Congenital abnormality | Endocrine system disease | Urogenital disease (female) | Urogenital disease (male)
MeSH® ID D006061
External Links

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, XY Disorders of Sex Development Has associated chemicals Has associated genes Gonadal Dysgenesis, 46,XY 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,XY 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, XY Disorders of Sex Development Has associated chemicals Has associated genes Gonadal Dysgenesis, 46,XY 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,XY 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, XY Disorders of Sex Development Has associated chemicals Has associated genes Gonadal Dysgenesis, 46,XY 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,XY 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, XY Disorders of Sex Development Has associated chemicals Has associated genes Gonadal Dysgenesis, 46,XY 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,XY Has associated chemicals Has associated genes

Top ↑ Descendants

Gonadal Dysgenesis, 46,XY Has associated chemicals Has associated genes
  46, XY female
  46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related Has associated chemicals Has associated genes
  46,Xy Gonadal Dysgenesis, Complete, Sry-Related
  46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy Has associated chemicals Has associated genes
  46,XY SEX REVERSAL 1 Has associated chemicals Has associated genes
  46,XY Sex Reversal 4
  46, XY Sex Reversal 5 Has associated chemicals Has associated genes
  Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal
  Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
  Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia
  Anorchia
  Genito palato cardiac syndrome
  Gonadal Dysgenesis, XY Type, with Associated Anomalies
  Gonadoblastoma
  Kennerknecht Vogel syndrome
  Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase
  Meacham Winn Culler syndrome Has associated chemicals Has associated genes
  Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal