46,XX дисгенезія гонад
ORPHA:243· ICD-10 Q99.1· 46,XX gonadal dysgenesis
Визначення(English summary)
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.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
- Вік початку
- Adolescent, Adult