46,XX testicular difference of sex development
ORPHA:393· ICD-10 Q99.1
Definition
A rare difference 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.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Antenatal, Neonatal