hrp0094p1-199 | Thyroid B | ESPE2021

New p.Ser237Asn Activating Mutation At The TSHR Receptor, Causing Familial Non- Autoimmune Hyperthyroidism

Bossowski Artur , Grigore Teodora , Makkonen Kristiina , Bossowski Filip , Jannari Meeri , Kero Jukka ,

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-...

hrp0095fc1.2 | Thyroid | ESPE2022

Comorbidity in congenital hypothyroidism - A nationwide population-based cohort study

Danner Emmi , Jääskeläinen Jarmo , Huopio Hanna , Niuro Laura , Niinikoski Harri , Kero Jukka , Sund Reijo

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...