46,XY complete gonadal dysgenesis
ORPHA:242· ICD-10 Q99.1
Definition
A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked
- Age of onset
- Adolescent, Adult