Endocrine Abstracts

Up to date, 12 patients with sporadic non-autoimmune hyperthyroidism (SNAH) caused by sporadic germline mutations in the TSHR gene have been reported. Nearly, all case reports discussed possible associations of the TSHR mutations in vitro activity (IVA) with the clinical course (CC). Therefore, we analyzed this question in a systematic review of the case reports and investigated the TSHR mutation’s IVA in selected cases.Recently, linear regre...

The hinge region of the hTSHR links the extracellular LRR-domain with the transmembrane domain. Recently, we identified mutations E297A, E303A, and D382A in the hinge region with a cell surface expression comparable to the wt but with a strongly reduced bovine TSH (bTSH) binding. The combined triple mutation E297A/E303A/D382A revealed a cell surface expression comparable to the wt but in comparison to the single mutants a more pronounced reduction of bTSH binding (9% of the wt...

Constitutive activation of the cAMP pathway by activating TSHR mutation stimulates both thyrocyte proliferation and function. Thus they lead to formation of toxic thyroid nodules (TTNs) and ultimately hyperthyroidism. The in vitro activity of the various TSH-receptor mutation varies from 2–7 fold cAMP increase over the wild type TSH receptor. One previous study invrestigated a possible genotype to phenotype relation in TTNs with somatic TSHR mutation with a negativ...

T3-action is regulated by three iodothyronine deiodinases, which contain selenium in the active site. It is proposed that Se availability regulates thyroid function. OPUS is a European population-based prospective cohort study of post-menopausal women in which we showed thyroid function within the upper normal range is associated with reduced bone mineral density (BMD) and increased non-vertebral fracture risk. Using strict exclusion criteria we defined reference ranges for th...