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...