Abstract
We identified somatic activating thyrotropin-receptor gene mutations within autonomous thyroid nodules (ATN) in 2 girls with 1 ATN and in 1 girl with 3 ATN. A fourth patient had a somatic activating gene mutation of the alpha-subunit of the stimulating G-protein in 2 ATN. Activating somatic mutations in ATN can cause non-autoimmune hyperthyroidism in children.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Child
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Female
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Humans
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Hyperthyroidism / etiology
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Male
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Mutation
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Receptors, Thyrotropin / genetics
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Thyroid Hormones / metabolism
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Thyroid Neoplasms / complications
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Thyroid Neoplasms / diagnosis*
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Thyroid Neoplasms / genetics
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Thyroid Neoplasms / metabolism
Substances
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Receptors, Thyrotropin
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Thyroid Hormones