ArticleThe Journal of clinical endocrinology and metabolism2013
Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.
Article in The Journal of clinical endocrinology and metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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
42 citing papers in PubMed, 1 synthesis or guideline pooled it.
- 2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.European thyroid journal · 2024Guideline
- Intrafamilial and Age-Dependent Variability in Resistance to Thyroid Hormone Alpha: A Case Report.Hormone research in paediatrics · 2026Article
- Stromal cells in normal colon and colon cancers: importance of thyroid hormone signaling.Cell death & disease · 2025Review
- Is It Time to Expand Newborn Screening for Congenital Hypothyroidism to Other Rare Thyroid Diseases?International journal of neonatal screening · 2025Review
- Lifestyle Interventions to Tackle Cardiovascular Risk in Thyroid Hormone Signaling Disorders.Nutrients · 2025Review
- TRα1 mutant suppresses KLF9 to cause endometrial metaplasia with ectopic IL-33 expression leading to uterine fibrosis and infertility.Scientific reports · 2025Article
- 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
- International Union of Basic and Clinical Pharmacology CXIII: Nuclear Receptor Superfamily-Update 2023.Pharmacological reviews · 2023Review
- Long-term follow-up results and treatment outcomes of children and adults with resistance to thyroid hormone alpha.Journal of endocrinological investigation · 2023Article
- Clinical and Biochemical Characteristics of Untreated Adult Patients With Resistance to Thyroid Hormone Alpha.Journal of the Endocrine Society · 2023Article
- Morphological and Functional Colonic Defects Caused by a Mutated Thyroid Hormone Receptor α.Thyroid : official journal of the American Thyroid Association · 2023Article
- Genetic disorders of thyroid development, hormone biosynthesis and signalling.Clinical endocrinology · 2022Review
- Histological, functional and transcriptomic alterations in the juvenile hippocampus in a mouse model of thyroid hormone resistance.European thyroid journal · 2022Article
- Structure-Guided Approach to Relieving Transcriptional Repression in Resistance to Thyroid Hormone α.Molecular and cellular biology · 2022Article
- Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.Thyroid : official journal of the American Thyroid Association · 2021Article
- A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.International journal of molecular sciences · 2021Article
- The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and AdultsJournal of clinical research in pediatric endocrinology · 2021Review
- Thyroid Hormone Receptor α Mutations Cause Heart Defects in Zebrafish.Thyroid : official journal of the American Thyroid Association · 2021Article
- Thyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North Africa.Oman medical journal · 2021Article
- Role of thyroid hormones in craniofacial development.Nature reviews. Endocrinology · 2020Review
Corrections and comments
- Commented on by
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextRecently the first patients with inactivating mutations in T₃ receptor (TR)-α1 have been identified. These patients have low free T₄, low T₄, high T₃, low rT₃, and normal TSH serum levels, in combination with growth retardation, delayed bone development, and constipation.
objectiveThe aim of the current study was to report the effects of levothyroxine (LT4) treatment on the clinical phenotype of 2 patients (father and daughter) with a heterozygous inactivating mutation in TRα1. SETTING AND
participantsBoth patients were treated with LT4 for the last 5 years. To evaluate the effect of LT4 treatment, LT4 was withdrawn for 35 days and subsequently reinitiated. Data were collected from medical records, by reanalysis of serum collected over the last 6 years, and by a detailed clinical evaluation.
resultsTreatment with LT4 resulted in a suppression of serum TSH and normalization of serum free T₄ and rT₃, whereas T₃ levels remained elevated in both patients. In addition, there was a normalization of the dyslipidemia as well as a response in serum IGF-I, SHBG, and creatine kinase in the index patient. All these parameters returned to pretreatment values when LT4 was briefly stopped. LT4 also resulted in an improvement of certain clinical features, such as constipation and nerve conductance. However, cognitive and fine motor skill defects remained.
conclusionThis study reports the consequences of LT4 treatment over a prolonged period of time in 2 of the first patients with a heterozygous mutation in TRα1. LT4 therapy leads to an improvement of certain but not all features of the clinical phenotype.
Indexed as
Identifiers
23633213What 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.