Endocrine Abstracts

Rare skeletal metabolic diseases comprise a group of diseases commonly associated with severe clinical consequences. In recent years, the description of the clinical phenotypes and radiographic features of several genetic bone disorders was paralleled by the discovery of key molecular pathways involved in the regulation of bone and mineral metabolism. Including this information in the description and classification of rare skeletal diseases may improve the recognition and mana...

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Fibrous dysplasia of bone/McCune-Albright syndrome (FD/MAS) is due to a somatic activating GNAS mutation. Patients may be asymptomatic in monostotic forms, which represent two thirds of cases. In those forms, the diagnosis is often incidental. But these monostotic FD may also be revealed by bone pain, bone deformity or fracture. The diagnosis is generally made in childhood or in young adults. Polyostotic FD is often more severe, with a higher incidence of fragility fracture. I...