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46,XX ovotesticular disorder of sex development

Disease definition

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

ORPHA:2138

  • Synonym(s):
    • 46,XX ovotesticular DSD
    • True hermaphroditism
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q56.0
  • OMIM: 400045
  • UMLS: C0266361  C2748895
  • MeSH: D050090
  • GARD: -
  • MedDRA: -

Detailed information

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