ArticleArchives of endocrinology and metabolism2026
Identification of a novel THRB mutation causing thyroid hormone resistance syndrome.
Article in Archives of endocrinology and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Resistance to thyroid hormone syndrome (RTHS) is a rare disorder caused by mutations in the thyroid hormone receptor beta (THRB) gene, resulting in impaired action of thyroid hormones on target tissues and organs. We report a case of a 57-year-old Chinese male who presented with palpitations and hand tremors. Laboratory tests revealed elevated serum thyroid hormone levels, while serum thyroid-stimulating hormone (TSH) levels remained within the normal range. Enhanced magnetic resonance imaging of the pituitary gland showed no abnormalities. Through genetic testing, we identified a rare heterozygous point mutation in the THRB gene, specifically c.938T>C: p.M313T. To the best of our knowledge, this mutation site has not been previously reported in the literature. Clinically, RTHS is often misdiagnosed as hyperthyroidism, leading to inappropriate treatment and potential exacerbation of thyroid hormone resistance. Therefore, accurate diagnosis of this condition is crucial. Given the rarity of RTHS, we hope that this case report will enhance the understanding of its clinical manifestations and management, particularly in patients with THRB gene mutations.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.