Endocrine Abstracts

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...

X-linked hypophosphatemia (XLH) is a rare genetic disease due to inactivation of the PHEX gene, which results in enhanced secretion of the phosphaturic hormone fibroblast growth factor 23 (FGF23); the latter induces renal phosphate wasting and hypophosphatemia. Skeletal and dental anomalies and recently described increase in cardiovascular risk are typical clinical findings. We retrospectively evaluated 58 adult patients with XLH from 9 Italian tertiary centres [34 females, 24...

In thalassemic patients individual values of BMD measured by traditional DEXA are lower than those determined by QCT. The reason for this discrepancy is still controversial.Aim: To investigate bone features in a large group of thalassemic patients, compared with patients with anorexia nervosa, also characterized by precocious osteoporosis.Study design: Forty-six adult thalassemic subjects and 25 anorectic women were studied. In all...