Article Title: Denys Drash Syndrome with Ambiguous Genitalia: A Case Report from Southern Philippines
Author: Claire G Cania, Maria Theresa G Bañes, Michael T Manalaysay, Coe P dela Seña, Conchita G Abarquez, Mae Concepcion J Dolendo and Genelynne J Beley*
Published Date: March 10, 2023
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). In this patient, it resulted from mutations in the WT1 gene on chromosome band 11p13. The genital abnormalities in the Denys Drash Syndrome may result from pleiotropic effects of mutations in the WT1 gene itself. Despite the relatively good prognosis of our patient, he was not able to undergo these life sustaining measures because of health care associated infection.