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Article

Lingual thyroid and resistance to thyroid hormone beta due to a novel THRB c.1312 C > T mutation in a child: diagnostic pitfalls and management.

Endocrine - 2 Jun 2026

Awad Mohammad Hosny, Thalange Nandu, Abiary Mohamed El

Abstract excerpt

Resistance to thyroid hormone beta (RTHβ) is a rare genetic disorder characterized by reduced tissue responsiveness to thyroid hormones despite elevated circulating levels. The coexistence of RTHβ and ectopic thyroid tissue is exceptionally rare and presents significant diagnostic and management challenges. We report an eight-year-old girl diagnosed with congenital hypothyroidism through neonatal screening, with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42228305
DOI: 10.1007/s12020-026-04685-6

Genes

THRB
BRAF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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