Endocrine Abstracts

Paget’s disease of bone (PDB) is the second commonest bone disease. The original disease description in 1876 by Sir James Paget remains an incisive, accurate report of the pathophysiology of PDB, which is characterised by focal regions of increased bone remodelling with initial excessive bone resorption and osteolytic lesions followed by long term increased bone formation and sclerosis. The majority of patients are elderly, many are asymptomatic. Those that are referred t...

Osteogenesis imperfecta (OI) is a heterogeneous genetic disorder with a prevalence of 1/15 000 to 1/20 000 individuals. In more than 90% of patients with type I–IV OI, the disorder is due to a dominant mutation in one of the two genes that encode the α chains of collagen type I, Col1A1 and Col1A2. Collagen type I is present in many tissues, and in addition to multiple fractures patients with OI can have dentinogenesis imperfecta, blue sclera, hyper mobile ligaments a...

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