ReviewThe Journal of clinical endocrinology and metabolism2012
Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.
Review in The Journal of clinical endocrinology and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.
What it found
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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.
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.
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Who cites it
56 citing papers in PubMed, 2 syntheses or guidelines pooled it, 106 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
- Evidence-Based Use of Levothyroxine/Liothyronine Combinations in Treating Hypothyroidism: A Consensus Document.Thyroid : official journal of the American Thyroid Association · 2021Guideline
- Identification and enrichment of human retinal organoid-derived red/green cone-competent precursors with enhanced axon dynamics.Stem cell research & therapy · 2026Article
- The human THRB thyroid hormone receptor gene and the puzzle of retinal disease phenotypes.Developmental biology · 2026Review
- Clinical and laboratory characteristics of pediatric patients diagnosed with thyroid hormone resistance: A single-center experience.Endocrine · 2026Observational
- A case of thyroid hormone resistance with coincidental pituitary macroadenoma.JCEM case reports · 2026Article
- Identification of a novel THRB mutation causing thyroid hormone resistance syndrome.Archives of endocrinology and metabolism · 2026Article
- The Role of Thyroid Hormone Signaling in the Development and Pathophysiology of Hearing: From Molecular Mechanisms to Clinical Applications.International journal of molecular sciences · 2026Review
- Extreme resistance to thyroid hormone caused by a novel mosaic thyroid hormone receptor beta mutation.European thyroid journal · 2025Article
- Is It Time to Expand Newborn Screening for Congenital Hypothyroidism to Other Rare Thyroid Diseases?International journal of neonatal screening · 2025Review
- 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
- Transcriptional Cofactors for Thyroid Hormone Receptors.Endocrinology · 2025Review
- Thyroid Hormone Resistance: A 17-Year Follow-up Case Report.Endocrine, metabolic & immune disorders drug targets · 2024Article
- International Union of Basic and Clinical Pharmacology CXIII: Nuclear Receptor Superfamily-Update 2023.Pharmacological reviews · 2023Review
- Lack of thyroid hormone receptor beta is not detrimental for non-alcoholic steatohepatitis progression.iScience · 2023Article
- The Dual Roles of Triiodothyronine in Regulating the Morphology of Hair Cells and Supporting Cells during Critical Periods of Mouse Cochlear Development.International journal of molecular sciences · 2023Article
- Expanding the phenotype ofFrontiers in cell and developmental biology · 2023Article
- Thyroid hormone action during GABAergic neuron maturation: The quest for mechanisms.Frontiers in endocrinology · 2023Review
- Cochlear Fibrocyte and Osteoblast Lineages Expressing Type 2 Deiodinase Identified with a Dio2CreERt2 Allele.Endocrinology · 2021Article
- Evidence-Based Use of Levothyroxine/Liothyronine Combinations in Treating Hypothyroidism: A Consensus Document.European thyroid journal · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
Abstract
contextThe most common cause of resistance to thyroid hormone (RTH) is heterozygous thyroid hormone receptor β (THRB) gene mutations. Homozygous mutations in the THRB gene are a rare event.
objectiveIn this study, the clinical findings of three new patients (belonging to two families) homozygous for mutations in the THRB gene are compared to three other families in which affected individuals lack a normal TRβ.
methodsWe conducted clinical studies and genetic analyses.
resultsThe clinical presentation in all three homozygous subjects was unusually severe; their phenotype was characterized by compromised intellectual development, tachycardia, goiter, growth retardation, and hearing loss. This was comparable with one other reported patient homozygous for mutant TRβ, but not in RTH due to THRB gene deletions.
conclusionWe report three new subjects, from two families, in whom RTH was associated with homozygous mutations in the THRB gene. They represent an important addition to the single known patient homozygous for a mutant TRβ. The clinical and laboratory abnormalities indicate a strong dominant-negative effect and are in agreement with data obtained from mice expressing a mutant Thrb in both alleles. This report strengthens the concept that the mutated TRβ interferes with the function of the TRα1 in humans.
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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.