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46,XY partial gonadal dysgenesis

Disease definition

46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.

ORPHA:251510

  • Synonym(s):
    • 46,XY PGD
    • 46,XY partial testicular dysgenesis
  • Prevalence: Unknown
  • Inheritance: X-linked recessive or Autosomal dominant or Autosomal recessive or Y-linked 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q56.1
  • OMIM: 154230  300018  612965  613762  615542  616067  616425
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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