Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: Incomplete Denys-Drash syndrome

The concurrence of ambiguous genitalia, nephropathy and predisposition to W ilms' tumor are characteristics of Denys-Drash syndrome. Some of the report ed patients do not express the full spectrum of the syndrome, while the occ urrence of nephropathy has become a generally accepted common feature of th is syndrome. We report an infant with male pseudohermaphroditism due to par tial gonadal dysgenesis and nephropathy without Wilms' tumor but with a Wil ms' tumor suppressor gene (WT1) mutation. The high risk of Wilms' tumor man dates regular surveillance and the use of prophylactic bilateral nephrectom y as a treatment is not yet clear.