The sporadic concurrence of male pseudohermaphroditism and chronic glomerulopathy is associated with an extremely high risk of Wilms tumor. We report our experience with an infant who developed this triad (Drash syndrome) and review the 21 patients described in the literature, to emphasize the importance of early diagnosis and to suggest guidelines for management. The dysgenetic gonads are always intra-abdominal and carry a 20% to 30% risk for malignancy. The external genitalia are frequently ambiguous (77%); some children are phenotypically normal females. The glomerulopathy typically leads to end-stage renal failure in infancy; the subsequent death rate has, to date, been 68%. The clinical presentation of renal disease is variable and includes congenital nephrotic syndrome (14%) and infantile nephrotic syndrome (41%); 27% of patients develop proteinuria and renal insufficiency between the ages of 1 and 3 years. The high risk of Wilms tumor (55% in this review) mandates regular tumor surveillance, and prophylactic bilateral nephrectomy and gonadectomy once irreversible renal failure develops.
Bibliographical noteFunding Information:
From the Department of Pediatrics, University of Minnesota Medical School. Supported by Grants AI-10704 and AM-13083from the National Institutes of Health and by the Viking Children's Fund. Dr. Eddy supported by the Medical Research Council of Canada. Submitted for publication May 22, 1984; accepted Aug. 24, 1984. Reprint requests: Allison Eddy, M.D., Department of Pediatrics, University of Minnesota, Box 491 Mayo, 420 Delaware St. SE, Minneapolis, MN 55455.