Background: Frasier syndrome is a rare genetic nephropathy
characterized by the presence of progressive glomerulopathy with proteinuria
associated with male pseudo-hermaphroditism.
The symptomatology evolves into a treatment-resistant nephrotic syndrome
that progressively leads to end-stage renal failure during the first two decades
of the child’s life.
Aim: 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: We report a case of a 19-year-old young
phenotypically male, born with a genital anomaly, who 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. He had four sets of renal
labs obtained throughout his three months of outpatient follow-up, all of which
revealed decreased renal function. An ultrasound reveals bilateral
cryptorchidism in the inguinal canal as well as the existence of functional
ovaries with dispersed, variable-sized follicles in the parenchyma. Therefore,
we came to the diagnosis of end-stage renal failure by progressive
glomerulopathy in the context of Frasier's syndrome based on these anamnestic,
clinical, and paraclinical observations.
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. In low-income settings such as ours, where genetic
technology is not always available, the diagnosis of Frasier syndrome should be
considered in any child with developmental abnormalities of the external
genitalia presenting with isolated proteinuria and/or signs of impaired renal
function during childhood or adolescence.
Author(s) Details
Axler Jean Paul
General Medicine, State University Hospital of Haiti,
Port-au-Prince, West, Haiti.
Dieuguens Louis
Internal Medicine, State University Hospital of Haiti,
Port-au-Prince, West, Haiti.
Ansly Jefferson
Desravines
General Medicine, State University Hospital of Haiti,
Port-au-Prince, West, Haiti.
Raema Mimrod Jean
General Medicine, State University Hospital of Haiti,
Port-au-Prince, West, Haiti.
Alfadler Jean
Baptiste
Internal Medicine, State University Hospital of Haiti,
Port-au-Prince, West, Haiti.
Jean Henold Buteau
Internal Medicine, State University Hospital of Haiti,
Port-au-Prince, West, Haiti.
Wislet Andre
Internal Medicine, State University Hospital of Haiti,
Port-au-Prince, West, Haiti.
Please see the book here:- https://doi.org/10.9734/bpi/mria/v9/1011
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