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Abstract
Drash syndrome is a complex disorder characterized by abnormal renal function, abnormal sexual differentiation with predisposition to developing gonadal neoplasms, and nephroblastoma. The authors report five cases with various manifestations of this syndrome. Dysgenetic gonads and abnormal sexual differentiation were present in all patients; two had unilateral and two bilateral gonadoblastomas; in addition, one of the latter had a juvenile granulosa cell tumor. Renal failure was present in all patients. One patient had bilateral Wilms' tumor, and one patient had a metanephric hamartoma. Each element of the triad in this syndrome is analyzed with regard to possible pathogenetic mechanisms and current models of carcinogenesis. Cases with complete forms of the syndrome reported in the literature are reviewed. Patients with incomplete forms of the syndrome must be followed carefully because other elements of this complex may become manifest.
View details for Web of Science ID A1987F723800015
View details for PubMedID 3028928