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Article

Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene.

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2012

Scaglia Paula A, Chiesa Ana, Bastida Gabriela, Pacin Mirta, Domené Horacio M, Gruñeiro-Papendieck Laura

Abstract excerpt

Activating mutations in the TSH Receptor (TSHR) gene have been identified as the molecular basis for congenital non-autoimmune hyperthyroidism. We describe the clinical findings and molecular characterization in a girl who presented severe non-autoimmune hyperthyroidism since birth, born to a mother with autoimmune thyroid disease. She was treated with methylmercaptoimidazol and β-blockers, but remained...

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Source

Identifiers

PMID: 23295291
DOI: 10.1590/s0004-27302012000800009

Genes

TSHR

Variants

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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Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene.PMID 23295291Read ↗

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Congenital Neonatal Hyperthyroidism Caused by Germline Mutations in the TSH Receptor GeneSemantic proximity Read ↗

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