ESPE Yearbook of Paediatric Endocrinology

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...

Clinical Endocrinology. 2020;93:305–311. doi: 10.1111/cen.14264. PMID: 32521075This study analyzed retrospectively GH content in newborn screening cards of 20 children with clinical features suggestive of GH deficiency (such as recurrent hypoglycemia) compared to screening cards from 281 healthy newborns, and determined 7 ng/ml to be the optimal a cut off value for the diagnosis of GH defic...

Clin Endocrinol Metab. 2021;106(2):431–441. doi: 10.1210/clinem/dgaa842. PMID: 33205215This study aimed to describe the clinical characteristics of 6 patients with NPR2 gene mutations and the response to rhGH treatment in 2 of them.The natriuretic peptide receptor 2 gene (NPR2) is a paracrine factor involved in the regulation of cell proliferati...

European Journal of Endocrinology (2020) 182, 559–567. doi: 10.1530/EJE-19-0646. PMID: 32337961 paolocavarzere@yahoo.itThese authors enrolled 80 prepubertal patients (46 boys; 34 girls) with idiopathic isolated GHD and normal brain MRI, who were treated with rhGH for at least two years. The data show that GH therapy could be safely stopped ...

BMJ Paediatrics Open 2020;4:e000630. doi: 10.1136/bmjpo-2019-000630. PMID: 32411831This systematic review and meta-analysis provides an up to date report on rhGH in patients with Prader–Willi syndrome (PWS). The review included 463 papers published until September 2019. 16 randomized (RCTs) and 20 not randomized (NRCTs) trials were selected for the meta-analysis. The findings suppor...

J Clin Endocrinol Metab. 2021 May 13;106(6):1728–1741. doi: 10.1210/clinem/dgab080. PMID: 33571362This report gathered data from two large observational studies (NordiNet International Outcome Study and ANSWER Program) aimed at assessing the incidence of adverse drug reactions (ADRs), serious adverse events (SAEs), and their relation with rhGH dose. The whole study cohort included 37,7...

Lancet Diabetes Endocrinol. 2020;8(8):683–692. doi: 10.1016/S2213-8587(20)30163-7. PMID: 32707116SAGhE is a large independent European consortium including eight different countries (Belgium, France, Germany, Italy, The Netherlands, Sweden, Switzerland, and the UK) which was set up to evaluate the long-term safety of rhGH in a large cohort (>24 000) of young adult patients t...

JAMA Pediatr. 2021;175(2):e205199. doi: 10.1001/jamapediatrics.2020.5199. PMID: 33346824This nationwide population-based study assessed the long-term risk of cardiovascular events in patients who had received rhGH therapy during childhood and adolescence. The study cohort comprised 3.408 subjects treated under the GHD, SGA or ISS indications, and 50 036 age-, sex-, and region-base...

J Clin Endocrinol Metab, August 2020, 105(8):e2796–e2806. doi: 10.1210/clinem/dgaa287. PMID: 32436961The aim of this longitudinal study was to investigate the potential long-term adverse effects of combined GnRHa/GH treatment on metabolic and bone health in short SGA children. Reassuring data are found at 5 years after cessation of GH therapy.Children born small ...

J Clin Endocrinol Metab. 2021;106(1):e1–e10. doi: 10.1210/clinem/dgaa510. PMID: 32816013This prospective observational study on a cohort of 255 adolescents with anorexia nervosa (AN) aimed to investigate the effects of nutritional restriction on linear growth and adult height. Whereas premorbid height did not differ from reference standards, girls with AN showed a mild but significantl...