ESPE Yearbook of Paediatric Endocrinology

Premium research efforts, encompassing laboratory, translational, clinical studies and clinical trials, continually augment our understanding of skeletal biology, along with disorders associated with growth plate, bone, and mineral metabolism. This progression is currently offering innovative treatments for rare skeletal disorders. In this chapter, we underscore several promising clinical trials, notably: a phase 2 study investigating denosumab treatment for fibrous dysplasia, a phase 1 study of a slow-release formulation of C-natriuretic peptide (CNP) in achondroplasia, and a successful anti-FGF23 treatment for autosomal recessive hypophosphatemic rickets.

Among the important clinical advances, we highlight an updated and expanded nosology of genetic skeletal disorders, and a large retrospective cohort study of neonatal and early infancy features of patients with inactivating PTH/PTHrP signalling disorders/pseudohypoparathyroidism. We also highlight two excellent review articles, one on high bone mass disorders and the other on disorders of biomineralization.

Translational highlights include a novel overgrowth syndrome due to mutations in SPIN4 and description of its molecular underpinning, as well as an animal model of childhood-onset osteoporosis due to PLS3 mutations.

Several seminal findings in diverse areas of skeletal biology are highlighted and include articles showing: evidence for lymph vessels in bone and their importance in bone tissue repair, and proof of liver-bone crosstalk involving small extracellular vesicles. Another interesting article reports the tracing of resting zone chondrocytes during food restriction and subsequent catch-up growth, describing a potential mechanism by which growth potential is conserved during growth-inhibiting conditions. In addition, the largest genome-wide association study finds that as much as 21% of the human genome may be involved in variation in human height and the associated loci are enriched for growth plate genes.

We hope you will enjoy the chapter and especially the excellent science and articles highlighted within it.