XY 46 Gonadal Dysgenesis

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Is a:
  • Disease or Syndrome
  • Congenital Abnormality
Definition:
This type of gonadal defect is characterized by a female phenotype, normal to tall stature, bilateral streak or dysgenetic gonads, and a 46,XY karyotype. This xy gonadal dysgenesis is a heterogenous condition with variant forms resulting from a structural abnormality on Y chromosome, a mutation in sry gene or a mutation in autosomal genes. The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to gonadal dysgenesis with a 46,XX karyotype (gonadal dysgenesis, 46,XX).
Synonyms:
  • Gonadal Dysgenesis, 46, XY
  • Swyer Syndrome
  • Syndrome, Swyer
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Narrower Topics:
  • None
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