Genetic Testing Proves Crucial in Case of Ambiguous Genitalia and Renal Masses.

OBJECTIVE The Denys-Drash syndrome consists of a triad of ambiguous genitalia, Wilm's tumor and nephrotic syndrome. METHODS We present a diagnostically challenging case of an XY patient with female appearance and Mullerian structures with a WT1 mutation. RESULTS These genetic findings resulted in gonadal dysgenesis, end-stage renal disease, and precursor changes to Wilm's tumor in both kidneys. Genetic testing proved critical in this case, helping to solidify a diagnosis and guiding our decision to proceed with bilateral nephrectomy and bilateral gonadectomy. CONCLUSIONS Denys-Drash syndrome can present quite dramatically. WT1 testing should be considered early in the workup for patients with differences of sexual development, particularly those with 46XY karyotype. (C) 2019 Elsevier Inc.