Objective: Frasier syndrome is a rare genetic nephropathy characterized by the presence of progressive glomerulopathy with proteinuria associated with male pseudo hermaphroditism. This case study described a picture of a young boy where the clinical suspicion context reminded the Frasier syndrome. To our knowledge, this case is the first described in Haiti.
Case Study: This is a19-year-old young phenotypically male, born with age nitalanomaly, was seen on referral at the nephrology/dialysis unit of the internal medicine department of the State University Hospital of Haiti for evaluation and follow-up. Insidious progression of symptoms had occurred over 3years. Over three months of out patient follow-up, he had four sets of renal labs drawn, and all showed impaired renal function. At the ultra sound, abilateral cryptorchidismis described in the inguinal, and presence of function alovaries with follicles of variable size scattered in the parenchyma. So, in the light of these anamnestic, clinical and paraclinical findings, we concluded to the diagnosis of end-stage renal failure by progressive glomerulopathy in a context of Frasier’s syndrome.
Conclusion: With any clinical picture consisting of genital anomalies at birth, renal symptomatology during childhood and the diagnosis of renal failure during adolescence, rare genetic nephropathies, such as Frasier syndrome must be considered.
Keywords: Frasier syndrome, End-stage renal failure, Young, HUEH, Haiti