Orphanet: 46,XY ovotesticular disorder of sex development

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46,XY ovotesticular disorder of sex development

Disease definition

46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.


Classification level: Disorder
  • Synonym(s):
    • 46,XY ovotesticular DSD
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q56.0
  • ICD-11: LD2A.0
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Disease review articles

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