46,XY partial gonadal dysgenesis
ORPHA:251510· ICD-10 Q56.1
Definition
A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked
- Age of onset
- Infancy, Neonatal