Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory?
We report a case of a 4-month-old infant with severe genital malformation and a 46, XY karyotype. Genetic testing revealed a variant in the NR5A1 gene, guiding a successful multistage surgical intervention. This case underscores the value of targeted genetic testing in guiding the management of seve...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2025-01-01
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| Col·lecció: | Frontiers in Surgery |
| Matèries: | |
| Accés en línia: | https://www.frontiersin.org/articles/10.3389/fsurg.2025.1524953/full |
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