A case of resistance to thyroid hormone beta and literature review: Case report.

doi:10.1097/MD.0000000000048504

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Article

A case of resistance to thyroid hormone beta and literature review: Case report.

Medicine - 1 May 2026

Yang Zirao, Ma Shuang, Dong Yuehua, Tian Xi, Wang He

Abstract excerpt

RATIONALE: Resistance to thyroid hormone (RTH) syndrome is an uncommon disorder of thyroid function that is frequently misdiagnosed or overlooked clinically. We identified a heterozygous mutation in the THRβ gene (c.1357C > A [p.Pro453Thr]) in a patient with resistance to thyroid hormone beta. This locus variation has rarely been reported domestically or internationally. PATIENT CONCERNS: The patient, a...

Topics

Humans
Female
Thyroid Hormone Resistance Syndrome
Adolescent
Thyroid Function Tests
Thyroid Hormone Receptors beta
Mutation
Triiodothyronine
Thyroxine
Goiter

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Open in PubMed Open full text

Identifiers

PMID: 42065173
DOI: 10.1097/MD.0000000000048504
PMCID: PMC13138390

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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