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 ...

Preface: This selection of articles in the field of growth and growth factors is characterized by a number of papers unravelling novel pathophysiological mechanisms underlying some forms of severe short stature. Growth plate gene variants have been described in a high proportion of children with severe familial short stature and/or born small for gestational age. Besides, some studies have enriched the knowledge of IGF system physiology showing the key role of IGF-1 receptor i...

PrefaceThe selection of papers in this chapter focused on clinical research, as major advancements in the pathophysiology, diagnostic work-up, management and treatment of growth disorders have been reported in 2020–21. The new cut-off values of blood GH concentrations for diagnosis of GH deficiency in the newborn, the insights into the phenotype and therapeutic response to rhGH in patients with NPR2 mutations, the individualisation of the o...

Address correspondence to: Stefano Cianfarani Bambino Gesù Children’s Hospital, Dipartimento Pediatrico Universitario Ospedaliero, IRCCS “Bambino Gesù” Children’s Hospital, Rome, Italy. P.zza S. Onofrio, 4 00165, Roma, Italy Tel. +39 06 6859 3074 (Hosp.) / +39 06 72596178 (Lab.) Fax. +39 06 6859 2508 (Hosp.)/ +39 06 72596172 (Lab.) E-mail: stefano.cianfarani@uniroma2.it<p class="abs...