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Article

Novel thyrotropin receptor germline mutation (Ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism.

Thyroid : official journal of the American Thyroid Association - 1 Sept 2005

Claus Maren, Maier Jacqueline, Paschke Ralf, Kujat Christoph, Stumvoll Michael, Führer Dagmar

Abstract excerpt

OBJECTIVE: Hereditary nonautoimmune hyperthyroidism is caused by activating thyrotropin receptor (TSHR) germline mutations. We describe a family from Saxony, Germany, with this condition. Recurrent thyrotoxicosis and goiter were prevalent in three generations, affecting in addition to the 16-year-old index patient, her father and late paternal grandmother. Hyperthyroidism in the girl was remarkable for its poor...

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Source

Identifiers

PMID: 16187920
DOI: 10.1089/thy.2005.15.1089

Genes

TSHR

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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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