46,XY partial gonadal dysgenesis
46,XY partial gonadal 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.
Also known as 46,XY partial testicular dysgenesis, 46,XY PGD — per MONDO