46,XX ovotesticular difference of sex development
ORPHA:2138· ICD-10 Q56.0
Definition
A rare difference of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Antenatal, Neonatal