Catalog

Frasier syndrome

No MMS code

Link to WHO Definition

Frasier syndrome – http://id.who.int/icd/entity/1659542949

Frasier syndrome is characterised by the association of 46,XY disorder of sex development (DSD) and glomerular nephropathy, with a high risk of developing gonadoblastoma. Patients with Frasier syndrome present with normal female external genitalia and streak gonads, and have a 46,XY karyotype. Nephropathy presents during childhood with proteinuria and nephrotic syndrome, and progresses to end-stage renal disease in adolescence or adulthood.