Wilms tumor suppressor gene-1 (WT1) mutations are associated with life-threatening nephropathy including congenital or/ infantile nephrotic syndrome (CNS) and/or childhood onset steroid-resistant nephrotic syndrome (SRNS) as well as a spectrum of disorders of sexual development (DSD), Wilm's tumor and gonadal malignancies. Here, WT1 is linked to disorder of sexual differentiation.