ArticleJournal of endocrinological investigation2019
Thyroid hormone resistance from newborns to adults: a Spanish experience.
Article in Journal of endocrinological investigation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Can a novel drug dose be used for T3 suppression test?Endocrine · 2023Trial
- Clinical and laboratory characteristics of pediatric patients diagnosed with thyroid hormone resistance: A single-center experience.Endocrine · 2026Observational
- 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
- Thyroid Hormone Resistance: A 17-Year Follow-up Case Report.Endocrine, metabolic & immune disorders drug targets · 2024Article
- Resistance to Thyroid Hormone Beta Due toJCEM case reports · 2024Article
- ConcurrentClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- A Case of Thyroid Hormone Resistance Syndrome with a Novel Mutation (c.947G>a) in theInternational medical case reports journal · 2024Article
- Thyroid Hormone Resistance Syndrome: From Molecular Mechanisms to Its Potential Contribution to Hypertension.Cureus · 2023Review
- Thyroid Stimulating Hormone and Thyroid Hormones (Triiodothyronine and Thyroxine): An American Thyroid Association-Commissioned Review of Current Clinical and Laboratory Status.Thyroid : official journal of the American Thyroid Association · 2023Review
- Resistance to Thyroid Hormones: A Case-Series Study.International journal of molecular sciences · 2022Article
- Resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma-two case reports of a thyroid hormone receptor beta gene mutation and a literature review.Frontiers in genetics · 2022Article
- TSH adenoma and syndrome of resistance to thyroid hormones-Two cases report of syndrome of inappropriate secretion of thyrotropin.Brain and behavior · 2021Article
- Resistance to Thyroid Hormone Beta: A Focused Review.Frontiers in endocrinology · 2021Review
- Role of thyroid hormones in craniofacial development.Nature reviews. Endocrinology · 2020Review
- The Differential Diagnosis of Discrepant Thyroid Function Tests: Insistent Pitfalls and Updated Flow-Chart Based on a Long-Standing Experience.Frontiers in endocrinology · 2020Article
- Resistance to Thyroid Hormone Due to a Missense Heterozygous Mutation in theAACE endocrinology and diabetesArticle
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Authors and funding
7 authors.
Funding
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Abstract
objectiveThyroid hormone resistance (RTH β) is a rare genetic disorder characterized by an altered response of target tissue to the action of thyroid hormone. Few studies on RTH β have been carried out in southern European populations. We aimed to describe the clinical and genetic characteristics at the time of diagnosis in a Spanish cohort of patients with genetically confirmed RTH β, with ages ranging from newborns to adults.
methodsRetrospective multicenter study of 28 patients who were genetically confirmed as RTH β. Clinical and biochemical data were collected from the reference centers, and the studied variables included age, sex, anthropometric data, clinical characteristics and biochemical results. In the Basque country, a simultaneous analysis of TSH and T4 is carried out in the program for the screening of inborn errors of metabolism. A molecular analysis of the thyroid hormone beta (THRB) gene was performed.
resultsThe total cohort included 20 adults and eight pediatric patients (six newborns). Of the total, 5 (17.8%) were diagnosed by clinical characteristics (goiter, hypertension or tachycardia), 13 (46.4%) were analyzed in the context of a family study and 10 (35.7%) were diagnosed after obtaining an altered fT4 and/or TSH level in a biochemical analysis performed due to clinical symptoms unrelated to RTH β. Four of the newborns included in the series were diagnosed by the result of neonatal screening, which allows us to estimate a minimum local incidence of RTH β of 1/18,750 live newborns. The genetic analysis showed the presence of 12 different heterozygous mutations in the THRB gene.
conclusionsWe report the clinical and genetic characteristics of a Spanish RTH β cohort, from neonates to adults. We also describe one novel mutation in the THRB gene as the cause of the disease. The simultaneous analysis of TSH and T4 carried out in the program for the screening of inborn errors of metabolism facilitates the early diagnosis of RTH β in newborns and has allowed us to estimate a minimum local incidence of RTH of 1/18,750 live newborns.
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