Frasier syndrome (Q108407): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / Knowledge Architect | |||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||
Normal rank | |||
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 |
||
| 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. |
Statements
CID11:ID_1659542949
0 references
dki-india-ID_1659542949
0 references
Concluído
0 references
