In XY DSD human patients, mutations that inactivate LHCGR are responsible for female external phenotype (Leydig cell hypoplasia, type 1) or the incomplete virilization of external genitalia (Leydig cell hypoplasia, type 2), as well as for a range of penile defects such as micropenis and hypospadias19. This evidence concerns the gene LHCGR and disorder of sexual differentiation.