/46,XY partial gonadal dysgenesis

46,XY partial gonadal dysgenesis

Rare Disease

MONDO:0016674

Also Known As

46,XY PGD46,XY partial testicular dysgenesis

Definition

46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.