Endocrine Abstracts

The paired-like homeodomain transcriptional repressor HESX1 is implicated in forebrain and pituitary embryogenesis. A homozygous mutation (R160C) was identified in two siblings with septo-optic dysplasia (SOD), with consequent loss of DNA-binding. We have now identified a second homozygous mutation (I26T) within the highly conserved engrailed homology domain (eh-1) of HESX1 that is crucial for the repressor function of HESX1. We aimed to investigate the functional consequences...

Introduction: Bone mineral density (BMD) is considered a valid surrogate of bone strength in postmenopausal women, however it lacks sensitivity in individual fracture risk assessment in the setting of women with early breast cancer (EBC) patients treated with aromatase inhibitors (AIs). Indeed, mechanical resistance of bone only partially depends on bone quantity, and bone geometry and size play an important role in bone resistance to fractures. In this cross-sectional study, ...