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Endocrine Abstracts (2017) 49 S22.3 | DOI: 10.1530/endoabs.49.S22.3


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. It is also commonly associated with renal phosphate wasting. About 5% of patients with FD also suffer from endocrine complications, including precocious peripheral puberty, growth hormone excess and hyperthyroidism. These endocrine conditions have to be treated as early as possible. For example, the precocious puberty generally responds well to an aromatase inhibitor, letrozole. Bisphosphonates have been used to treat bone pain and reduce bone turnover for more than two decades with satisfactory outcomes in most patients. This treatment can often be tapered after 2–3 years. Preventive surgery is often advised in children to avoid fracture and deformity of lower limbs. This kind of approach is also warranted in adults. A multidisciplinary management is necessary, involving specialists of bone diseases, endocrinologists, orthopedic surgeons, and sometimes cranio-facial surgeons along with neurosurgeons, both in children and adults. New therapies e.g., denosumab and tocilizumab are currently being studied to improve bone pain in those patients who do not adequately respond to bisphosphonates. An international collaboration is currently developing a framework that would be applicable around the world to improve the care of this rare disease, in particular to avoid delays in treatment.

Volume 49

19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

European Society of Endocrinology 

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