A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation.

doi:10.1089/thy.2006.0333

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Article

A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation.

Thyroid : official journal of the American Thyroid Association - 1 Jul 2007

Ferrara Alfonso Massimiliano, Capalbo Donatella, Rossi Giuseppina, Capuano Serena, Del Prete Giuseppina, Esposito Valentina, Montesano Giovanna, Zampella Emilia, Fenzi Gianfranco, Salerno Mariacarolina, Macchia Paolo Emidio

Abstract excerpt

OBJECTIVE: Hereditary (familial) nonautoimmune hyperthyroidism (FNAH) is caused by activating thyroid-stimulating hormone (thyrotropin) receptor (TSHR) germline mutations. We describe a family with recurrent thyrotoxicosis and goiter across three generations, including an 8-year-old girl. MAIN OUTCOME: Sequences of the TSHR gene in the index patient, her father, her paternal grandmother, and a paternal uncle...

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PMID: 17696839
DOI: 10.1089/thy.2006.0333

Genes

TSHR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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