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Article

Activating TSH-receptor mutation (Met453Thr) as a cause of adenomatous non-autoimmune hyperthyroidism in a 3-year-old boy.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2009

Kraemer Sebastian, Rothe Karin, Pfaeffle Roland, Fuehrer-Sakel Dagmar, Till Holger, Muensterer Oliver J

Abstract excerpt

Several mutations of the TSH-receptor gene have been described in a variety of thyroid diseases. Particularly in children and adolescents, somatic or germ cell mutations may lead to hyperthyroidism. In these cases, molecular analysis of the TSHR gene provides important information for further clinical management. We report a 3-year-old boy with a rare somatic TSHR mutation causing autonomous adenoma of the...

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Source

Identifiers

PMID: 19492584
DOI: 10.1515/jpem.2009.22.3.269

Genes

TSHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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