ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2021) 18 4 | DOI: 10.1530/ey.18.4

1Dipartimento Pediatrico Universitario Ospedaliero, IRCCS “Bambino Gesù” Children’s Hospital, Rome, Italy; 2Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy; 3Department of Women’s and Children’s Health, Karolinska Institute and University Hospital, Stockholm, Sweden. (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:


The 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 optimal timing for GH retesting, and the evidence-based assessment of the beneficial effects of rhGH therapy in children with Prader–Willi syndrome, will likely have an impact on clinical practice. A bunch of papers deal with the still controversial issue of the long-term safety of rhGH therapy. The observation of growth impairment in patients with anorexia nervosa, the natural history of patients with NPR2 mutations, and the elucidation of the genetic architecture underlying familial short stature and SGA open new perspectives for research and management of these conditions. Finally, the genetic approach to the prediction of individual responses to rhGH therapy and the discovery of collagen pathogenic gene variants underlying some cases of familial short stature represent new paradigms in the field.

Article tools

My recent searches

No recent searches.

My recently viewed abstracts