46,XY часткова дисгенезія гонад
ORPHA:251510· ICD-10 Q56.1· 46,XY partial gonadal dysgenesis
Визначення(English summary)
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.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked
- Вік початку
- Infancy, Neonatal