Frasier syndrome (Q108407): Difference between revisions
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Síndrome de Frasier é caracterizada pela associação de distúrbio do desenvolvimento sexual (DDS) 46, XY e nefropatia glomerular, com alto risco de desenvolvimento de gonadoblastoma. Pacientes com síndrome de Frasier apresentam genitália externa feminina normal e gônadas estriadas e têm cariótipo 46, XY. A nefropatia se apresenta durante a infância com proteinúria e síndrome nefrótica, e progride para doença renal em estágio terminal na adolescência ou na idade adulta. | |||
| description / en | description / en | ||
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. | |||
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. |
