Background Frasier syndrome is a rare genetic nephropathy caused by a point mutation in the WT 1 gene located on chromosome 11.14 First described in 1964 by Professor Frasier,5 it is characterized by the presence of progressive glomerulopathy with proteinuria associated with male pseudo hermaphroditism (presence of female external genitalia in a male phenotype).2,3,68 Initial manifestations of patients with Frasier syndrome include morning edema (facial puffiness), elevated blood pressure, proteinuria, with hypospadias and/or ambiguity of the external genitalia accompanied by cryptorchidism at birth.2,3,9 The symptomatology evolves into a treatment-resistant nephrotic syndrome that progressively leads to end-stage renal failure during the first two decades of the childs life.2,3,6,911 We present a case of Frasier syndrome that was seen at the nephrology/dialysis unit of HUEH. This is a young phenotypically male (presence of secondary male characteristics) who is 19 years old and born with a genital malformation in a family without history of consanguinity. They were seen on referral at the nephrology/dialysis unit of the internal medicine department of HUEH for evaluation and follow-up. Continue reading
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