Preferred Label : Frasier syndrome;
ICD-11 definition : 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.;
Origin ID : 1659542949;
Automatic exact mappings (from CISMeF team)
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.
