ESPE Yearbook of Paediatric Endocrinology

Introduction: The skeletal research field has produced several important findings during the past year, including advances in the treatment of rare skeletal disorders and an ever deeper understanding of skeletal biology and disorders of mineral metabolism. This year we highlight several advances in the field of skeletal mineralization, ranging from basic mechanisms of tissue mineralization to clinical advances in the understanding of rare disorders characterized by aberrant mi...

PrefaceThe skeletal research field continues to develop rapidly and has produced several seminal findings in the last year including advances in the treatment of rare skeletal disorders, and an even deeper understanding into the molecular mechanisms that control skeletal development, endochondral bone formation, mineralization of skeletal tissues and skeletal biology. The targeting of the C-type natriuretic peptide (CNP) pathway and options to directly a...

Preface: The skeletal research field continues to develop rapidly and produced several seminal findings during the last year, including advances in the treatment of rare skeletal disorders, and an ever deeper understanding of skeletal stem cell biology and hormone receptor signalling mechanisms. The targeting of the C-type natriuretic peptide (CNP) pathway as a way to antagonize the overactivity of the FGFR3 pathway in achondroplasia has been a subject of tremendous interest a...

Preface: It has been an exciting year for life science in the skeletal research field with several seminal findings ranging from basic science and genetics to novel successful treatments. The powerful technology of cell-tracing is developing and is bringing new understanding to the identity and behaviour of skeletal stem cells. Two reports in Nature have identified the perichondrial stem cell pool that contribute bone cells to the periosteum as well as the behaviour o...

The chapter on bone, growth plate and mineral metabolism has some themes that tend to recur year after year. Vitamin D is one such topic. Yet, every year brings new essential information on this vitamin, which has often been suggested to be a miracle cure for several disorders. Links to many outcomes exist, but solid data on actual benefits beyond prevention and treatment of rickets are scarce. This year the selected vitamin D papers suggest that once vitamin D sufficiency is ...

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,...

To read the full abstract: J Clin Endocrinol Metab. 2017 Sep 1;102(9):3261-3267At a histological level congenital hyperinsulinism (CHI) is classified into three forms, namely diffuse, focal and atypical. The atypical forms display histological mosacism (heterogeneous populations of islets, which appear to be resting or quiescent and localized to particular domains/lobes of the pancreas) but the m...

To read the full abstract: N Engl J Med 2018;378:1987-1998FGF-23 is the primary regulator of phosphate homeostasis and acts by inhibiting phosphate reabsorption in the kidney (1). Loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog X-linked (PHEX) results in excess circulating FGF-23, which impairs renal phosphate reabsorption causing hypophosphatemia...

Abstract: Lancet. 2019 May 16.In brief: In a randomised, active-controlled, open-label, phase 3 trial, burosumab (an anti-FGF23 antibody) demonstrated significantly greater clinical improvements in rickets severity, growth, and biochemistries among children with X-linked hypophosphataemia compared with continuation of conventional therapy with oral phosphate and active vitamin D ...