Frasier syndrome (Q108407): Difference between revisions
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Revision as of 15:28, 17 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1659542949 |
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| English | Frasier syndrome |
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. |
