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Can J Urol. 2007 Dec;14(6):3767-9.

Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome.

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1
State University of New York, Upstate Medical University, Department of Urology, Syracuse, New York, USA.

Abstract

OBJECTIVE:

We present a child with Denys-Drash syndrome recognized after surgery for mixed gonadal dysgenesis, and discuss screening procedures the urologist should consider in similar circumstances.

CASE REPORT:

A 1-year-old child with XY gonadal dysgenesis underwent genital reconstruction. The postoperative period was complicated by incisional drainage, which led to the recognition of a nephrotic syndrome. Molecular analysis of the WT-1 gene confirmed a mutation associated with the Denys-Drash syndrome.

CONCLUSION:

The Denys-Drash syndrome should be suspected in children with XY gonadal dysgenesis. The presence of urine protein should be sought in such children, and if present, consultation with genetic and nephrology specialists is warranted.

PMID:
18163932
[Indexed for MEDLINE]
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