Suspicion of Frasier’s Syndrome in the Nephrology Unit of the State University Hospital of Haiti: Case Study and Review of Literature
Hi Dr. Coles,
Please see below the abstract a case report from the med students and residents published in the International Medical Case Reports Journal (pubmed indexed). Submitted w the authors consent.
Authors: Axler Jean Paul, Dieuguens Louis, Ansly Jefferson Desravines Raema Mimrod Jean, Alfadler Jean Baptiste, Wislet Andre, Jean Henold Buteau
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 a 19-year-old young phenotypically male, born with a genital anomaly, 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 3 years. Over three months of outpatient follow-up, he had four sets of renal labs drawn, and all showed impaired renal function. At the ultrasound, a bilateral cryptorchidism is described in the inguinal, and presence of functional ovaries 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.