ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2024) 22 4.0 | DOI: 10.1530/ey.22.4.0

1 Endocrinology and Diabetes Unit, IRCCS “Bambino Gesù” Children’s Hospital, Rome, Italy; 2Department of Systems Medicine, University of Rome ‘Tor Vergata’, Rome, Italy; 3Acibadem-Izmir Kent Hospital, Pediatric Endocrinology Unit, Turkey (YES member); 4Department of Women’s and Children’s Health, Karolinska Institute and University Hospital, Stockholm, Sweden


Introduction: In this chapter, we discuss diverse aspects of growth disorders, their underlying genetic mechanisms, and the efficacy and clinical management of growth hormone (GH) therapy in children and adolescents. Among the novel insights into the pathophysiology and treatment of short stature, we highlight the comprehensive genetic characterization of children with Silver–Russell syndrome, the identification of a new pathogenetic variant associated with GH insensitivity (QSOX2 deficiency), and the clinical description of GH secretagogue receptor (GHSR) haploinsufficiency. Encouraging results of GH therapy have also been reported in children carrying mutations in ACAN, NPR2, GHR, and GHSR. Of potential relevance to clinical practice is the identification of significant clinical predictors of better first-year response to GH treatment in children with idiopathic short stature (ISS).

The growing use of long-acting GH (LAGH) has prompted us to include statements from an international consensus on LAGH formulations, as well as results from the first LAGH trial in short children born small for gestational age (SGA). Emerging long-term data in children with Prader–Willi syndrome (PWS) receiving GH treatment show an impact on thyroid function. Furthermore, an elegant study, using open-circuit indirect calorimetry with a ventilated hood system, demonstrated that GH therapy has no direct effect on resting energy expenditure in this population.

Finally, recent research indicates that both short stature and growth hormone deficiency (GHD) are associated with distinct alterations in brain structure–function coupling in primary sensory regions, potentially affecting cognitive and behavioral outcomes. These findings underscore the importance of early diagnosis and intervention in GHD.

We hope you enjoy reading this multifaceted chapter, which we believe captures several exciting and clinically meaningful advances in the field of growth.

Article tools

My recent searches

No recent searches