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46,XY complete gonadal dysgenesis

Disease definition

A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype.


Classification level: Disorder
  • Synonym(s):
    • 46,XY CGD
    • 46,XY pure gonadal dysgenesis
    • Swyer syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or Y-linked or X-linked recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: Q99.1
  • ICD-11: LD2A.1
  • OMIM: 154230  233420  300018  400044  612965  613080  613762  616425
  • UMLS: C2936694
  • MeSH: -
  • GARD: 5068
  • MedDRA: 10084327

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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