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 ...

In Brief: Individuals with achondroplasia carry a lifelong burden of reduced physical and mental health. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) found that, across an individual’s lifetime, achondroplasia is associated with multisystem complications, reduced QoL and functionality, increased pain and increased healthcare resource utilization.Commentary: Individuals with achondroplasia present with a range of clinic...