ESPE Abstracts

Background: The pathogenesis of hyperthyroidism varies greatly, with familial non-autoimmune autosomal dominant hyperthyroidism being a rare cause. In patients who are genetically related, thyrotoxicosis develops without the clinical features of autoimmunity. In this study, we present five family members with familial hyperthyroidism who have a confirmed mutation of p.Ser237Asn in the TSHR receptor.Case Report: Our patient, a 13,5- year-...

Aim of the study: The aim of this nationwide population-based register study was to investigate the incidence of congenital malformations, neonatal and chronic comorbidities, and the use of prescribed drugs in patients with primary congenital hypothyroidism (CH).Methods: The study cohort and matched controls were identified from national population-based registers in Finland (The Social Insurance Institution of Finland a...