TY - JOUR
T1 - Genetic Testing Proves Crucial in Case of Ambiguous Genitalia and Renal Masses
AU - Weaver, John
AU - Rove, Kyle O.
AU - Meenakshi-Sundaram, Bhalaajee
AU - Vricella, Gino J.
N1 - Publisher Copyright:
© 2019 Elsevier Inc.
PY - 2019/7
Y1 - 2019/7
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85064244565&partnerID=8YFLogxK
U2 - 10.1016/j.urology.2019.03.011
DO - 10.1016/j.urology.2019.03.011
M3 - Article
C2 - 30914336
AN - SCOPUS:85064244565
SN - 0090-4295
VL - 129
SP - 194
EP - 196
JO - Urology
JF - Urology
ER -