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Denys Drash Syndrome with Ambiguous Genitalia- A Case Report from Southern Philippines

Author

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  • Genelynne J Beley

    (Southern Philippines Medical Center, Department of Pediatrics, Davao City, Philippines)

Abstract

Worldwide, more than 200 cases of Denys-Drash syndrome have been published up to date. This patient from Southern Philippines presented with a left abdominal mass associated with signs of nephropathy such as periorbital, facial and bipedal edema. He also presented with ambiguous genitalia and undescended testis, left. The clinical triad of Nephrotic Syndrome, male pseudohermaphrodritism and Wilms tumor presenting as progressively enlarging abdominal mass were appreciated. Chromosomal analyses showed a 46, XY chromosomes and further diagnostic work up revealed a WT1c.1358G>C (p. Cys453Ser) heterozygous (Variant of Unknown Significance or VUS).

Suggested Citation

  • Genelynne J Beley, 2023. "Denys Drash Syndrome with Ambiguous Genitalia- A Case Report from Southern Philippines," Biomedical Journal of Scientific & Technical Research, Biomedical Research Network+, LLC, vol. 49(2), pages 40401-40409, March.
    • Handle: RePEc:abf:journl:v:49:y:2023:i:2:p:40401-40409
    DOI: 10.26717/BJSTR.2023.49.007767
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