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46,XX gonadal dysgenesis

Disease definition

46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

ORPHA:243

  • Synonym(s):
    • 46,XX complete gonadal dysgenesis
    • 46,XX ovarian dysgenesis
    • 46,XX pure gonadal dysgenesis
    • FSH-RO
    • Follicular stimulating hormone-resistant ovaries
    • Hypergonadotropic ovarian dysgenesis
    • XX female gonadal dysgenesis
    • XX-GD
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or Not applicable 
  • Age of onset: Adolescent, Adult
  • ICD-10: Q99.1
  • OMIM: 233300  300510  614324
  • UMLS: C0685837  C0949595
  • MeSH: D023961
  • GARD: -
  • MedDRA: -

Detailed information

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