Orphanet: 46,XX ovotesticular disorder of sex development

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46,XX ovotesticular disorder of sex development

Disease definition

A rare disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.


Classification level: Disorder
  • Synonym(s):
    • 46,XX ovotesticular DSD
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: Adolescent, Neonatal, Antenatal
  • ICD-10: Q56.0
  • OMIM: 400045
  • UMLS: C0266361  C2748895
  • MeSH: D050090
  • GARD: -
  • MedDRA: -

Detailed information


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