46,XX gonadal dysgenesis
ORPHA:243· ICD-10 Q99.1
Definition
A rare disorder/difference of sex development characterized by a primary ovarian defect, either a failure of the gonads to develop or resistance to gonadotrophin stimulation which leads to premature ovarian failure (POF) in otherwise phenotypically female 46,XX individuals.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
- Age of onset
- Adolescent, Adult