ArticleThe Journal of clinical endocrinology and metabolism2010
Autoimmunity in patients with resistance to thyroid hormone.
Article in The Journal of clinical endocrinology and metabolism, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- 2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.European thyroid journal · 2024Guideline
- Clinical and laboratory characteristics of pediatric patients diagnosed with thyroid hormone resistance: A single-center experience.Endocrine · 2026Observational
- Thyroid hormone resistance beta and autoimmune thyroid disease - a family case study highlighting diagnostic and therapeutic challenges.Cardiovascular diabetology. Endocrinology reports · 2026Article
- A Rare Coexistence of Thyrotropin-Secreting Pituitary Adenoma and Graves Disease.JCEM case reports · 2025Article
- Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone BetaJournal of clinical research in pediatric endocrinology · 2025Article
- Exploring antigenic variation in autoimmune endocrinopathy.Frontiers in immunology · 2025Review
- Resistance to Thyroid Hormone Beta and Coexisting Thyroid Disease: Diagnostic and Therapeutic Challenges Illustrated by Two Cases.Case reports in endocrinology · 2025Article
- Thyroid Hormone Resistance: A 17-Year Follow-up Case Report.Endocrine, metabolic & immune disorders drug targets · 2024Article
- A Case of Thyroid Hormone Resistance Syndrome with a Novel Mutation (c.947G>a) in theInternational medical case reports journal · 2024Article
- A novel variant of THRβ and its 4-year clinical course in a Korean boy with resistance to thyroid hormone.Annals of pediatric endocrinology & metabolism · 2023Article
- Central hyperthyroidism combined with Graves' disease: case series and review of the literature.European thyroid journal · 2023Review
- Resistance to thyroid hormone due to a novel mutation in the thyroid beta receptor (Frontiers in genetics · 2023Article
- Genetic disorders of thyroid development, hormone biosynthesis and signalling.Clinical endocrinology · 2022Review
- Thyroid hormone resistance syndrome due to a novel heterozygous mutation and concomitant Hashimoto's Thyroiditis: A pedigree report.The Journal of international medical research · 2022Article
- Graves' disease coexisted with resistance to thyroid hormone: a case report.Journal of medical case reports · 2021Article
- Case of Resistance to Thyroid Hormones With a Relatively Rare Mutation in Thyroid Hormones Receptor.Cureus · 2021Article
- Resistance to Thyroid Hormone Beta: A Focused Review.Frontiers in endocrinology · 2021Review
- Coexistence of Autoimmune Hyper- and Hypothyroidism in a Kindred with Reduced Sensitivity to Thyroid Hormone.European thyroid journal · 2020Article
- Thyroid hormone resistance from newborns to adults: a Spanish experience.Journal of endocrinological investigation · 2019Article
- Painless destructive thyroiditis in a patient with resistance to thyroid hormone: a case report.Thyroid research · 2019Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
contextResistance to thyroid hormone (RTH) is an inherited syndrome most often caused by thyroid hormone receptor beta (TRbeta) gene mutations. Given that autoimmune thyroid disease (AITD) is prevalent in the general population, its coexistence with RTH has been presumed coincidental. It was recently proposed that chronic TSH stimulation in RTH may induce an autoimmune response, thereby increasing the chance of their coexistence.
objectiveThe aim was to examine the prevalence of AITD in a large cohort with RTH compared with their unaffected first-degree relatives. SUBJECTS AND
methodsAmong 130 families, 330 individuals with RTH confirmed by the presence of TRbeta gene mutations and 92 unaffected first-degree relatives were tested for thyroglobulin and thyroperoxidase antibodies. The presence of AITD was based on at least one of the two antibodies being positive. Data were analyzed according to genotype, gender, age, and familial association. A large homogeneous family was analyzed separately.
resultsIndividuals with RTH had an increased likelihood of thyroid autoantibodies (odds ratio = 2.36; P = 0.002). In males, the odds of having AITD were higher in individuals with RTH compared to unaffected first-degree relatives (odds ratio = 2.91; P = 0.042). Although female subjects with RTH had an odds ratio of 1.95 for having thyroid autoantibodies, the difference was not statistically significant (P = 0.097). Antibody prevalence at different ages was not affected by genotype.
conclusionsIndividuals with RTH due to TRbeta gene mutations have an increased likelihood of AITD compared to unaffected relatives, but the prevalence of thyroid autoantibodies with advancing age is not affected by genotype. These novel findings demonstrate that the association between RTH and AITD is not coincidental.
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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.