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Non-autoimmune Familial Hyperthyroidism in Children: The Importance of Genetic Testing

Mariana Sa Pinto1, Tomás Ferrão2, Andreia Dias Preda1

  • 1Pediatrics and Neonatology, Unidade Local de Saúde Gaia - Espinho, Vila Nova de Gaia, PRT.

Cureus
|February 3, 2026
PubMed
Summary

Non-autoimmune hyperthyroidism can stem from genetic mutations activating the thyroid-stimulating hormone receptor (TSHR). Genetic testing identified a TSHR variant in an adolescent with a family history, guiding treatment and highlighting the importance of genetic analysis.

Keywords:
adolescentgenetic testinghereditary diseaseshyperthyroidismthyrotropin receptor

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