ESPE Abstracts (2021) 94 YB1.5

1Division of Pediatric Endocrinology and Center for Molecular Medicine, Karolinska Institutet and University Hospital, Stockholm, Sweden.;2Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.;3Department of Pediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom.;4School of Medical Sciences, Örebro University and University Hospital, Örebro, Sweden


The skeletal research field develops rapidly and has produced several exciting findings in the last year and includes advances in the treatment of rare skeletal disorders and an ever deeper understanding into the fundamental molecular mechanisms that control skeletal development, metabolism, growth, and mineralization. The targeting of the C-type natriuretic peptide (CNP) pathway and options to directly antagonize the overactivity of the FGFR3 pathway in achondroplasia continues to be a subject of high interest and excitement and in the 2021 yearbook we highlight the double-blind, randomized placebo-controlled phase 3 study of a CNP analogue (vosoritide) in children with achondroplasia. We also highlight the identification of a novel gene for autosomal dominant hypophosphatemic rickets, publication of new growth charts for X-linked hypophosphatemia and two large well-designed paediatric vitamin D trials for the prevention of tuberculosis and asthma exacerbation, respectively. Translational highlights include review on the recent advances of mineral metabolism and biomineralization, in vivo data suggesting that modification of the synovial microenvironment may allow endogenous skeletal stem cells to form hyalin cartilage and thereby heal articular cartilage injuries, as well as a study using gene targeting in zebra fish to reveal the pathogenic mechanism by which mutations in CRTAP and P3H1 causes osteogenesis imperfecta type VII and VIII, respectively. Advances in the understanding of skeletal biology a study by McDonald et al. that challenges the current dogma on the origin and fate of osteoclasts as they show evidence that multinucleated osteoclasts can fission into daughter cells, a.k.a. osteomorphs, that subsequently are recycled into bone resorbing osteoclasts via a RANKL-dependent process. Additional articles in this section directly and indirectly highlight the critical role of loading and mechanical stress on the growing skeleton. Several of these exciting findings will be highlighted in the presentation.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

Online,
22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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