Searchable abstracts of presentations at key conferences in endocrinology

ea0099p175 | Late-Breaking | ECE2024

Novel homozygous pathogenic variant in the Vitamin-D binding protein in a patient with undetectable Vitamin D levels despite treatment with high doses of vitamin D

Terezaki Eleni , Oscarson Mikael , Berinder Katarina

Vitamin-D binding protein (VDBP) is the main reservoir of circulating vitamin D and its metabolites in blood. VDBP deficiency leads to a benign phenotype of undetectable vitamin D in the blood without remarkable effects in the calcium and bone metabolism if dietary vitamin D is sufficient ((Safadi et al 1999, Banerjee et al 2021)). This paradoxical phenotype is probably explained by the free-hormone hypothesis, which suggest that only the unbound vitamin D fr...

ea0099p508 | Endocrine-Related Cancer | ECE2024

Adrenal tumors in children and adolescents in Sweden: A diagnosis related groups-based analysis from 2005–2019

Terezaki Eleni , Calissendorff Jan , Mannheimer Buster , Lindh Jonatan , Falhammar Henrik

Adrenal tumors (ATs) are uncommon in children and adolescents. The aim of this nation-wide retrospective registry-based cohort study was to characterise the various ATs in this population and demonstrate their differences from ATs in adults. All patients under the age of 21 in Sweden with verified adrenal lesions according to ICD-codes between 2005 and 2019 were identified in linked nation-wide registries. Out of the total 232 patients, 121 (52.2%) were boys, with boy predomin...