NR5A1 and disorder of sexual differentiation: Here, we described four cases of adolescent girls with virilization in whom the clinical, laboratory, and sequencing analyses led to the diagnosis of 46,XY DSD caused by NR5A1 (patients #1 and #2), SRD5A2 (patient #3), and HSD17B3 variants (patient #4; initial diagnosis of CAIS).