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46,XX testicular disorder of sex development

Disease definition

46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.

ORPHA:393

  • Synonym(s):
    • 46,XX testicular DSD
    • De la Chapelle syndrome
    • XX, male syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q99.1
  • OMIM: 278850  300833  400045
  • UMLS: C0432475  C2936419
  • MeSH: D058531
  • GARD: 399
  • MedDRA: -

Detailed information

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