Searchable abstracts of presentations at key conferences in endocrinology

ea0099p252 | Calcium and Bone | ECE2024

Role of variants of uncertain significance in determining bone fragility or low bone mineral density in adults: A multicenter study

Carrara Silvia , Vai Silvia , Mihalich Alessandra , Blasio Anna Di , Ponti Emanuela , Guabello Gregorio , Guarnieri Vito , Pigni Stella , Lania Andrea , Mazziotti Gherardo , Corbetta Sabrina

Osteoporosis causes bone fragility usually affecting the elderly. Genetic susceptibility plays a crucial role in determining the risk of fragility fractures and is involved in early-onset osteoporosis. When fragility fractures or low bone mineral density (BMD) occur in young adults without evident secondary osteoporosis, an underlying monogenetic bone disease should be assessed. The list of genes related to low BMD and their mutations is increasing. Nevertheless, little is kno...