ESPE Yearbook of Paediatric Endocrinology

In Brief: This comprehensive genome-wide association study (GWAS) identified over 20 000 loci associated with adult height. This groundbreaking research revealed that up to 21% of the human genome can be linked to variation in human height, providing a deeper understanding of the complex regulation of human height.Commentary: This one of the largest GWAS to date involving 5.4 million individuals. It discovered 12 111 independent SNPs associated with adul...

Brief Summary: This retrospective, observational, single centre study compared the risk of tumor progression or recurrence in 71 patients with childhood-onset craniopharyngioma (CP) who started GH replacement therapy (GHRT) with different latency from the end of tumor treatment.GHRT latency was defined as the time from end of CP treatment (last debulking procedure or radiotherapy, or from CP diagnosis for the 5 patients without any debulking procedure or...

Brief summary: In this study the authors reported the adult height and timing of puberty of a cohort of Danish children born small for gestational age (SGA) and treated with rhGH in comparison with national growth standards. rhGH treatment significantly increased height SDS in adulthood as compared to the height SDS at treatment start. Age at peak height velocity did not differ compared with the reference cohort, although peak height velocity was reduced in SGA subjects. SGA b...

Brief summary: This multicenter, randomized, controlled, phase 3 study compared the effects of long-acting GH (Somapacitan; 0.16 mg/kg/wk) with daily GH (Norditropin; 0.034 mg/kg/d), in GHD children. The trial was conducted over 52 weeks, followed by an ongoing 3-year single-group extension period. Similar efficacy and safety for somapacitan compared to daily GH was demonstrated over 52 weeks of treatment.Long-acting growth hormone (LAGH) formulations ha...

Brief summary: In this study, 10 145 children of 1–8 years of age, selected from a prospective systematic cohort study and stratified according to HLA-risk categories for type-1-diabetes (T1D), underwent a combined evaluation of pancreatic autoimmunity, glucose metabolism and anthropometry at different timeframes. Diagnosis of T1D occurred in 131/10,145 children (1.3%). Faster height growth, both before and after age 3 years, was significantly associated with the appearan...

Brief summary: Using data from the Type 1 Diabetes Intelligence (T1DI) cohort (n=24 662), this prospective study aimed to identify optimal ages for initial islet autoantibody (IAb) screening to predict the development of clinical type 1 diabetes (T1D). The identified optimal screening ages were 2 years and 6 years, with sensitivity of 82% and positive predictive value of 79% for T1D by age 15 years.Screening for T1D is a growing research topic a...

To read the full abstract: J Am Soc Nephrol. 2017 Aug;28(8):2529-2539The association of hyperinsulinaemic hypoglycaemia (HH) and polycystic kidneys has not been reported before. Here, the authors studied 17 patients from 11 different families and found that all patients had a combination HH and polycystic kidneys. The HH was mild and some patients required diazoxide therapy. In contrast the poly...

To read the full abstract: N Engl J Med. 2020;382:341–352.Teprotumumab, an IGF-1R monoclonal antibody, showed promising results for the treatment of Graves’ orbitopathy in a first phase 2 study reported in 2017 [1]. Here, this randomized double-masked, placebo controlled phase 3 multicenter study confirms those initial promising results in patients with moderate-to severe Graves’ eye disease: The primary outcome of proptosis reduc...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(1): dgz055. PMID: 31613957.Mineralocorticoid (MC) replacement therapy along with glucocorticoid (GC) replacement is crucial to avoid life-threating adrenal crises in Addison´s disease (AD) and in classical CAH (1–3). MC is administered with the aim of achieving plasma renin concentration (PRC) within the upper limit of ...

Brief summary: This 12-months randomized, controlled, phase 3 study compared the efficacy and safety of once-weekly Somatrogon 0.66 mg/kg/week with once-daily somatropin in prepubertal children with GHD. The efficacy of once-weekly Somatrogon was noninferior to once-daily somatropin, with similar safety and tolerability profiles.Somatrogon (MOD-4023) is a long-acting rhGH recently approved by the European Medicines Agency for the treatment of children wi...