gonadal dysgenesis
[A number of syndromes with defective gonadal developments such as streak gonads and dysgenetic testes. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis. ( MSH )]
UMLS (CSP) C0018051- Congenital Abnormality
- Disease or Syndrome
Relation/PAR: sex differentiation disorder
Relation/CHD: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, Mixed
Monosomy X
Gonadal Dysgenesis, Mixed
Monosomy X
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