ESPE Yearbook of Paediatric Endocrinology

J Bone Miner Res. 2022 Feb;37(2):236-243.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34668234/In Brief: This study characterized a large cohort of patients with fibrous dysplasia/McCune Albright syndrome in order to assess the fracture prevalence and identify risk factors for future factures.Commentary: Fibrous dysplasia/McCune-Albright s...

To read the full abstract: Clin Endocrinol. 2018;89:56–64.McCune Albright syndrome (MAS) is a rare disorder caused by somatic gain-of-function mutations of the GNAS gene [1]. This gene encodes the α-subunit of the Gs protein and its mutations are responsible for persistent stimulation of adenylyl cyclase and dysregulated production of cyclic AMP leading to persistent o...

In Brief: This phase 2 study investigated the effect of the RANKL inhibitor denosumab on fibrous dysplasia lesion activity, as well as the rebound in bone turnover after treatment discontinuation.Commentary: Denosumab is a humanized monoclonal antibody that inhibits RANKL with potent but transient antiosteoclastic effects, and discontinuation of denosumab treatment is associated with a rebound in bone turnover. In this study, eight women received high do...