ArticleJournal of endocrinological investigation2010
Lack of consistent association of thyrotropin receptor mutations in vitro activity with the clinical course of patients with sporadic non-autoimmune hyperthyroidism.
Article in Journal of endocrinological investigation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 19 citations in OpenAlex.
- Article
- 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
- 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
- Clinical Significance of Thyroid-Stimulating Hormone Receptor Gene Mutations and/or Sodium-Iodine Symporter Gene Overexpression in Indeterminate Thyroid Fine Needle Biopsies.Frontiers in endocrinology · 2018Article
- Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation.Clinical case reports · 2017Article
- Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism.Journal of pediatric endocrinology & metabolism : JPEM · 2017Article
- 2012 European thyroid association guidelines for the management of familial and persistent sporadic non-autoimmune hyperthyroidism caused by thyroid-stimulating hormone receptor germline mutations.European thyroid journal · 2012Article
- Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene.European journal of pediatrics · 2012Article
- Subclinical nonautoimmune hyperthyroidism in a family segregates with a thyrotropin receptor mutation with weakly increased constitutive activity.Thyroid : official journal of the American Thyroid Association · 2010Article
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4 authors at 1 institution in 1 country.
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Abstract
backgroundUp to date, 14 patients with sporadic non-autoimmune hyperthyroidism (SNAH) caused by sporadic germline mutations in the TSH receptor (TSHR) gene have been reported. Despite considerable differences in the activity of hyperthyroidism, all SNAH case reports concluded that the demonstrated constitutive activity explains the phenotype.
aimRecently, linear regression analysis (LRA) of constitutive activity as a function of TSHR expression determined by 125I-bTSH binding or fluorescence activated cell sorting analysis was described as a more reliable way of characterizing the in vitro activity (IVA) of a constitutively activating TSHR mutation. Therefore, we analyzed a possible genotype-phenotype correlation in a systematic review of the case reports and investigated the TSHR mutation's LRA in selected cases. MATERIAL AND
methodsWe determined the LRA for all sporadic germline mutations which had not previously been reported. Moreover, we systematically evaluated all case reports of SNAH for evidence of an association of the clinical course (CC) with the IVA of the mutated TSHR.
resultsThe LRA determined were: M453T (5.2+/-0.8), L512Q (4.5+/-0.7), I568T (25.6+/-6.3), F631L (45.9+/-9.4), T632I (14.5+/-2.7), D633Y (16.4+/-6.4). None of the 10 examined clinical signs showed a significant association with the LRA. Moreover, the comparison of the CC of patients harboring the same mutation (S281N, M453T, I568T, S505N) also showed no relation of the clinical activity with a high LRA.
conclusionConsidering the different diagnostic circumstances, therapeutic strategies and the limitations of a systematic analysis of case reports due to the restricted number of case reports and limited follow-up we found no consistent relation of the TSHR mutation's IVA determined by LRA with the CC of patients with SNAH. This may also be due to the action of genetic, epigenetic, and environmental modifiers.
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