Frasier syndrome is a urogenital anomaly associated with WT1

WT1

Wilms tumor protein is a protein that in humans is encoded by the WT1 gene.- Function :This gene encodes a transcription factor that contains four zinc finger motifs at the C-terminus and a proline / glutamine-rich DNA-binding domain at the N-terminus...

.

It was first characterized in 1964.

Presentation

Frasier syndrome presents at birth with male pseudohermaphroditism (the external genitalia have a female appearance despite an XY genotype), streak gonads and progressive glomerulonephropathy (focal segmental glomerulosclerosis). Patients are also at increased risk of genitourinary tumours (usually gonadoblastoma).

The glomerulonephropathy presents later than in Denys-Drash syndrome, and the tumour risk phenotype is different - whilst DDS is associated with Wilms' tumour, Frasier syndrome is associated with gonadoblastoma. Differentiating between the two syndromes can be challenging.