Searchable abstracts of presentations at key conferences in endocrinology

ea0092op-05-04 | Oral Session 5: Young Investigators / Basic | ETA2023

Multi-Trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications

Sterenborg Rosalie , Steinbrenner Inga , Li Yong , Bujnis Melissa , Naito Tatsuhiko , Marouli Eirini , Consortium Thyroidomics , Kottgen Anna , Smit Johannes W.A. , Peeters Robin , Teumer Alexander , Medici Marco

Introduction: In the last decade, it has become clear that not only overt but also subclinical hypo- and hyperthyroidism are associated with several adverse clinical outcomes, including atrial fibrillation, coronary heart disease, stroke and mortality. More recently, various studies have suggested that even small differences in thyroid function within the reference range are associated with clinical consequences. Genetic factors are responsible for up to 58-71% of the variatio...

ea0101op-10-02 | Oral Session 10: Thyroid dysfunction-2 | ETA2024

Towards personalized TSH reference ranges: a genetic and population-based approach in three independent cohorts

Kuś Aleksander , Sterenborg Rosalie , Haug Eirin , Galesloot Tessel , Edward Visser W. , Smit Johannes W.A. , Bednarczuk Tomasz , Peeters Robin , Olav AEsvold Bjorn , Teumer Alexander , Medici Marco

Background: Serum thyroid-stimulating hormone (TSH) measurement is the diagnostic cornerstone for primary thyroid dysfunction. There is high inter-individual, but limited intra-individual variation in TSH concentrations, largely due to genetic factors. The currently used wide population-based reference intervals may lead to inappropriate management decisions.Methods: A polygenic score (PGS) including 59 genetic variants was used to calculate genetically-...

ea0020p552 | Neuroendocrinology, Pituitary and Behaviour | ECE2009

The D3 GH receptor polymorphism is associated with osteoarthritis, especially of the hip, in patients with long-term cured acromegaly

Wassenaar Moniek JE , Biermasz Nienke R , van der Klaauw Agatha A , Smit Johannes WA , Pereira Alberto M , Roelfsema Ferdinand , van der Straaten Tahar , Kroon Herman M , Kloppenburg Margreet , Guchelaar HJ , Romijn Johannes A

Objective: To evaluate the impact of the genomic deletion of exon 3 in the growth hormone receptor (d3GHR) on co-morbidities of acromegaly in a well-characterized cohort of patients with long-term remission of acromegaly.Design: Cross sectional study.Methods: The presence of the d3GHR polymorphism was assessed in 86 acromegalic patients and related to clinical outcome, i.e. anthropometric parameters, osteoarthritis, and the metabol...