Orphanet: 46,XX testicular disorder of sex development

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46,XX testicular disorder of sex development

Disease definition

A rare disorder of sex development (DSD) associated with a 46, XX karyotype and characterized by male external genitalia, ranging from normal to atypical with associated testosterone deficiency.


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

Detailed information


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