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Endocrine System Diseases > Gonadal Disorders > Disorders of Sex Development > Gonadal Dysgenesis > Gonadal Dysgenesis, Mixed
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Gonadal Dysgenesis > Gonadal Dysgenesis, Mixed
... > Urogenital Diseases > Male Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Gonadal Dysgenesis > Gonadal Dysgenesis, Mixed
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Urogenital Abnormalities > Disorders of Sex Development > Gonadal Dysgenesis > Gonadal Dysgenesis, Mixed
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Sex Chromosome Disorders > Sex Chromosome Disorders of Sex Development > Gonadal Dysgenesis, Mixed
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Sex Chromosome Disorders > Sex Chromosome Disorders of Sex Development > Gonadal Dysgenesis, Mixed
Endocrine System Diseases > Gonadal Disorders > Disorders of Sex Development > Sex Chromosome Disorders of Sex Development > Gonadal Dysgenesis, Mixed
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Sex Chromosome Disorders of Sex Development > Gonadal Dysgenesis, Mixed
... > Urogenital Diseases > Male Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Sex Chromosome Disorders of Sex Development > Gonadal Dysgenesis, Mixed
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Urogenital Abnormalities > Disorders of Sex Development > Sex Chromosome Disorders of Sex Development > Gonadal Dysgenesis, Mixed

Preferred term

Gonadal Dysgenesis, Mixed  

Type

  • mesh:Descriptor

Definition

  • A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.

Broader concept

Entry terms

  • Mixed Gonadal Dysgenesis

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-CG32L6WX-T

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RDF/XML TURTLE JSON-LD Created 12/21/78, last modified 6/30/21