ArticleEuropean thyroid journal2012
2012 European thyroid association guidelines for the management of familial and persistent sporadic non-autoimmune hyperthyroidism caused by thyroid-stimulating hormone receptor germline mutations.
Article in European thyroid journal, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 45 citations in OpenAlex.
- Non-Autoimmune Hyperthyroidism Associated With a Novel Germline Mutation (D633N) in the TSH Receptor.Case reports in endocrinology · 2026Article
- ATranslational pediatrics · 2025Article
- Familial Nonautoimmune Hyperthyroidism Due to a TSH Receptor Gene Pathogenic Variant.JCEM case reports · 2024Article
- Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.JCI insight · 2024Article
- A Novel TSHR Gene Mutation in a Family with Non-autoimmune Hyperthyroidism.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2024Article
- Iodine and Thyroid Maternal and Fetal Metabolism during Pregnancy.Metabolites · 2023Review
- Long-Term Disproportional TSH Hyposecretion in a Patient With Nonautoimmune Hyperthyroidism After Radioiodine Therapy.JCEM case reports · 2023Article
- Screening, diagnosis and management of hyperthyroidism in pregnancy.Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia · 2022Article
- The Mysterious Universe of the TSH Receptor.Frontiers in endocrinology · 2022Review
- Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study.Hormones (Athens, Greece) · 2021Review
- Hyperthyroidism in adolescents.Endocrine connections · 2021Review
- Extrathyroidal Manifestations of Persistent Sporadic Non-Autoimmune Hyperthyroidism in a 6-Year-Old Boy: A Case Report.Life (Basel, Switzerland) · 2021Article
- Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant.Medicina (Kaunas, Lithuania) · 2021Article
- Report of a family with three generations of undiagnosed familial nonautoimmune hyperthyroidism.Endocrinology, diabetes & metabolism case reports · 2021Article
- Familial Non-autoimmune Hyperthyroidism in Family Members Across Four Generations Due To a Novel Disease-causing Variant in The Thyrotropin Receptor Gene.Balkan journal of medical genetics : BJMG · 2020Article
- Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy.Clinical endocrinology · 2019Article
- Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation.Clinical case reports · 2017Article
- Hyperplasia in glands with hormone excess.Endocrine-related cancer · 2016Review
- Database(d) Guidelines: A Small World.European thyroid journal · 2012Article
- A CASE OF FAMILIAL NONAUTOIMMUNE HYPERTHYROIDISM DURING PREGNANCY.AACE clinical case reportsArticle
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
All cases of familial thyrotoxicosis with absence of evidence of autoimmunity and all children with persistent isolated neonatal hyperthyroidism should be evaluated for familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) or persistent sporadic non-autoimmune hyperthyroidism (PSNAH). First, all index patients should be analysed for the presence/absence of a thyroid-stimulating hormone (TSH) receptor (TSHR) germline mutation, and if they display a TSHR germline mutation, all other family members including asymptomatic and euthyroid family members should also be analysed. A functional characterization of all new TSHR mutations is necessary. Appropriate ablative therapy is recommended to avoid relapses of hyperthyroidism and its consequences, especially in children. Therefore, in children the diagnosis of FNAH or PSNAH needs to be established as early as possible in the presence of the clinical hallmarks of the disease.
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