Endocrine Abstracts

Case History: X-linked hypophosphataemia (XLH) manifests as rickets in infancy or childhood, and is caused by mutations of the phosphate-regulating neutral endopeptidase (PHEX) gene, which leads to excess production of the fibroblast growth factor-23 (FGF-23) hormone. We present a case illustrating that mutation of PHEX can also cause hypophosphataemia presenting in adulthood. The proband is a 56-year-old male, who was referred with persistent hypophosphataem...

Introduction: Diabetes is associated with increased fracture risk both in patients with type 1 (T1D) and type 2 diabetes (T2D) despite differences in bone mineral density BMD (decreased in T1D and increased in T2D). In T2D, insulin resistance (IR) is selective, with some insulin signaling pathways impaired, while others are overactive due to hyperinsulinemia. It is not clear how different insulin signaling pathways might contribute to the bone phenotypes observed in diabetes. ...