ESPE Yearbook of Paediatric Endocrinology

Preface: The spread of next generation sequencing (NGS) together with the progressive reduction in its cost has led to a broader application of this approach in children with short stature. We have selected a number of papers describing new gene mutations associated with familial short stature, Silver-Russell-like syndrome and syndromic short stature. The roles of IGF-I in the work-up of short stature, GH dose titration, cognitive function, predicting final height, supporting the embryonic stem cell niche, and as cardiovascular disease risk marker are emphasized in well-designed studies. Finally, studies reporting the consequences of GH deficiency on bone geometry and gut microbioma, and the results of a phase 2 trial of a once-weekly GH preparation in GHD patients are considered to be highly relevant for our readers. In the last year, the vast majority of papers on growth and growth factors reported clinical rather than basic science research. Nevertheless, many clinical observations remain without a clear pathophysiological explanation, thus paving the way for further studies aimed at elucidating the underlying biological mechanisms.