ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2020 Oct 1;105(10):3243–3249 Abstract: https://pubmed.ncbi.nlm.nih.gov/32721016/In brief: X-linked hypophosphatemia (XLH) is the most common hereditary form of rickets and osteomalacia. The study used retrospective, pre-burosumab growth data from four different studies and constructed growth charts that demonstrate that the growth rate of children with...

N Engl J Med 2020; 383:359–368 DOI: 10.1056/NEJMoa1915176 Abstract: https://pubmed.ncbi.nlm.nih.gov/32706534/In brief: Vitamin D metabolites support innate immune responses to Mycobacterium tuberculosis. In this phase 3, randomized, controlled trial of vitamin D supplementation to prevent tuberculosis infection, there was no reduction of risk of tuberculosis infection, tubercu...

JAMA. 2020 Aug 25;324(8):752–760. doi: 10.1001/jama.2020.12384. Abstract: https://pubmed.ncbi.nlm.nih.gov/32840597/In brief: Several observational studies have linked low serum 25(OH)D levels to severe asthma exacerbations, lower lung function, and reduced response to corticosteroids. In this randomized controlled trial...

Nat Rev Endocrinol. 2021 May;17(5):261–275 Abstract: https://pubmed.ncbi.nlm.nih.gov/33727709/In brief: This article systematically reviews the current advances in the understanding of mineral metabolism with focus on the regulation of mineralization in skeletal tissue and inhibition of mineralization in non-skeletal tissue. This is mandatory reading for any aspiring endocrino...

Nat Med. 2020 Oct;26(10):1583–1592 Abstract: https://pubmed.ncbi.nlm.nih.gov/32807933/In brief: Improved treatments for osteoarthritis and other degenerative joint diseases are urgently needed. This study demonstrates, for the first time, that the synovial microenvironment can be modified to allow resident skeletal stem cells to form hyaline articular cartilage and thereby reg...

Nat Commun. 2021 Jan 13;12(1):362 Abstract: https://pubmed.ncbi.nlm.nih.gov/33441552/In brief: Heterogenous differentiation patterns and low yields limit the use of human induced pluripotent stem cells (hiPSCs) for the generation of cartilage. In the present work, bulk- and single cell RNA sequencing during chondrogenic differentiation were used to identify regulatory networks resp...

Matrix Biol. 2020 Aug;90:40–60 Abstract: https://pubmed.ncbi.nlm.nih.gov/32173581/In brief: Mutations in 3-hydroxylation complex genes CRTAP and P3H1 cause osteogenesis imperfecta type VII and VIII, respectively. However, the pathogenic mechanism by which these mutations cause disease remains unclear. This study points to a defective chaperone role of the 3-h...

Cell. 2021 Mar 4;184(5):1330–1347.e13 Abstract: https://pubmed.ncbi.nlm.nih.gov/33636130/In brief: This paper reports an alternative cell fate for multinucleated, bone-resorbing osteoclasts and shows that they may undergo fission into smaller osteomorphs. The findings challenge the current dogma that osteoclasts primarily differentiate from hematopoietic progenitor cells and a...

Proc Natl Acad Sci USA 2021 Feb 23;118(8):e2019152118. Abstract: https://pubmed.ncbi.nlm.nih.gov/33597301/In brief: Sox9 is the key transcription factor and master regulator of chondrocyte differentiation during skeletal development. This paper demonstrates that SOX9 also has a key role during postnatal life to maintain open growth plates and healthy articular cartilage by preventi...

J Bone Miner Res. 2021 Feb;36(2):369–384 Abstract: https://pubmed.ncbi.nlm.nih.gov/33180356/In brief: Chondrocyte-specific ablation of the mechano-sensory Piezo1 results in substantially impaired formation of secondary spongiosa during endochondral bone formation. The study explores this unexpected finding and show that mechano-sensing in growth plate chondrocytes directly reg...