ReviewMedicine2026
A case of resistance to thyroid hormone beta and literature review: Case report.
Review in Medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
0 citing papers in PubMed.
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Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleResistance 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 13-year-old female presenting with goiter, was found to have persistent high free triiodothyronine and free thyroxine levels with a non-suppressed thyroid-stimulating hormone in the absence of classic hyperthyroid symptoms. DIAGNOSES: Based on the patient's history, physical examination, imaging studies, and genetic testing, the diagnosis of resistance to thyroid hormone was definitively established.
interventionsThe medication was discontinued based on the patient's clinical status. The management plan was transitioned to a strategy of watchful waiting, with scheduled follow-ups to monitor the patient's status. OUTCOMES: Following a genetic diagnosis, the patient has been followed for 24 months under an active surveillance strategy, which includes annual thyroid function tests. LESSONS: Enhanced clinical vigilance is imperative to mitigate diagnostic bias and errors associated with this condition, thereby ensuring timely and accurate diagnosis and appropriate therapeutic intervention.
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