ReviewBiochimica et biophysica acta2013
The syndromes of reduced sensitivity to thyroid hormone.
Review in Biochimica et biophysica acta, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers, 1 of them a synthesis that pooled it.
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
95 citing papers in PubMed, 1 synthesis or guideline pooled it, 244 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
- The human THRB thyroid hormone receptor gene and the puzzle of retinal disease phenotypes.Developmental biology · 2026Review
- Thyroid hormone resistance beta and autoimmune thyroid disease - a family case study highlighting diagnostic and therapeutic challenges.Cardiovascular diabetology. Endocrinology reports · 2026Article
- Article
- Identification of a novel THRB mutation causing thyroid hormone resistance syndrome.Archives of endocrinology and metabolism · 2026Article
- [New ways in interdisciplinarity: internal medicine meets human genetics : When frequent conditions become rare and rare conditions become frequent].Innere Medizin (Heidelberg, Germany) · 2026Review
- Differential diagnosis of familial dysalbuminemic hyperthyroxinemia , RTH, and TSHomas: A single-center retrospective analysis.Endocrine · 2026Article
- Lifestyle Interventions to Tackle Cardiovascular Risk in Thyroid Hormone Signaling Disorders.Nutrients · 2025Review
- Nuclear receptor corepressor 1 levels differentially impact the intracellular dynamics of mutant thyroid hormone receptors associated with resistance to thyroid hormone syndrome.Molecular and cellular endocrinology · 2024Article
- Article
- Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients.Thyroid : official journal of the American Thyroid Association · 2024Article
- Thyroid Hormone Resistance With a Novel Mutation.Cureus · 2024Article
- Resistance to Thyroid Hormone Beta Due toJCEM case reports · 2024Article
- Gene polymorphisms and thyroid hormone signaling: implication for the treatment of hypothyroidism.Endocrine · 2024Review
- Relationship between Thyroid Feedback Quantile-based Index and cardiovascular diseases in a population with normal thyroid function: Evidence from the National Health and Nutrition Examination Survey 2007-2012.Clinical cardiology · 2024Article
- Article
- Altered brain functional connectivity in patients with resistance to thyroid hormone ß.PloS one · 2024Article
- Thyroid hormone-regulated chromatin landscape and transcriptional sensitivity of the pituitary gland.Communications biology · 2023Article
- Thyroid Hormone Resistance Syndrome: From Molecular Mechanisms to Its Potential Contribution to Hypertension.Cureus · 2023Review
- International Union of Basic and Clinical Pharmacology CXIII: Nuclear Receptor Superfamily-Update 2023.Pharmacological reviews · 2023Review
35 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
backgroundSix known steps are required for the circulating thyroid hormone (TH) to exert its action on target tissues. For three of these steps, human mutations and distinct phenotypes have been identified. SCOPE OF REVIEW: The clinical, laboratory, genetic and molecular characteristics of these three defects of TH action are the subject of this review. The first defect, recognized 45years ago, produces resistance to TH and carries the acronym, RTH. In the majority of cases it is caused by TH receptor β gene mutations. It has been found in over 3000 individuals belonging to approximately 1000 families. Two relatively novel syndromes presenting reduced sensitivity to TH involve membrane transport and metabolism of TH. One of them, caused by mutations in the TH cell-membrane transporter MCT8, produces severe psychomotor defects. It has been identified in more than 170 males from 90 families. A defect of the intracellular metabolism of TH in 10 individuals from 8 families is caused by mutations in the SECISBP2 gene required for the synthesis of selenoproteins, including TH deiodinases. MAJOR
conclusionsDefects at different steps along the pathway leading to TH action at cellular level can manifest as reduced sensitivity to TH. GENERAL SIGNIFICANCE: Knowledge of the molecular mechanisms involved in TH action allows the recognition of the phenotypes caused by defects of TH action. Once previously known defects have been ruled out, new molecular defects could be sought, thus opening the avenue for novel insights in thyroid physiology. This article is part of a Special Issue entitled Thyroid hormone signaling.
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What Socratic 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 Socratic graph.