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

John Weaver, Kyle O. Rove, Bhalaajee Meenakshi-Sundaram, Gino J. Vricella

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


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 Müllerian 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.

Original languageEnglish
Pages (from-to)194-196
Number of pages3
StatePublished - Jul 2019


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