ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab 2017; 102 (8): 2670-2677These case reports lead to an important conclusion which changes our diagnostic work-up of early-onset childhood obesity. The authors shows that thorough work-up of clinical cohorts, combined with genetic and epigenetic analyses, can define new characteristic features of known disorders. PHP1A, and surprisingly also PHP1B,...

Brief summary: Current guidelines for congenital hypothyroidism recommend a starting dose of 10–15 μg/d of levothyroxine for optimal treatment (1). Over the last years, some studies suggested that overtreatment of patients during infancy by high levothyroxine doses might have negative effects on neurocognitive and behavioral development (2). The presented multicenter prospective randomized trial aimed at comparing the effect of higher (12.5–15.0 μg/d levoth...

Brief summary: This phase 3 double-blind, parallel-group, randomized, placebo-controlled trial over 68 weeks randomised (2:1) 201 adolescents with obesity to receive semaglutide 2.4 mg once weekly or placebo. Both groups also received lifestyle intervention. The primary endpoint was the percentage change in BMI. Treatment with semaglutide produced clinically relevant reductions in BMI and body weight, and improvements in cardiovascular risk factors, which were all significantl...

Brief Summary: This multicenter, double-blind, randomized, placebo-controlled trial evaluated the effects of vitamin D supplementation (14,000 IU D3 weekly for 3 years) on fracture risk and other bone health indicators in 8,851 schoolchildren aged 6–13 years in 18 public schools in Mongolia, where vitamin D deficiency is highly prevalent with a high fracture burden.Vitamin D3 doses were given during weekly face-to-face visits in schools. Families co...

Diabetologia. 2021 Mar;64(3):630-640. doi: 10.1007/s00125-020-05346-7. PMID: 33404684.The derivation of iPSCs and their subsequent conversion to islet like clusters from a patient with diffuse CHI due to a homozygous mutation in the ABCC8 provided these authors a unique opportunity to study the molecular basis of CHI and to develop potential novel treatment options by screening...

J Clin Endocrinol Metab. 2020;105:dgaa415. doi: 10.1210/clinem/dgaa415.The optimal cut-off for neonatal screening has long been a matter of debate. The optimal balance between optimal detection of cases and increase of false positive patients is difficult to define. Also, in the most recent guidelines for congenital hypothyroidism (see previous paper in this chapter 3.7), no precise cut-off...

J Neurosci. 2020 Dec 2;40(49):9455–9466. 10.1523/JNEUROSCI.2069-20.2020. PMID: 33158965 https://www.jneurosci.org/content/40/49/9455.longIn brief: These authors used two transgenic mouse models to assess the direct action of estrogens and androgens on GHRH neurons to control growth, pubertal development and reprod...

J Pediatr Endocrinol Metab. 2020; 33: 1257–1263. https://pubmed.ncbi.nlm.nih.gov/32845867/This retrospective study evaluated the prevalence of adrenal insufficiency after a single intra-articular corticosteroid injection (IACI) in 60 children with chronic arthritis. Adrenal insufficiency was diagnosed in 30% (18/60) and was associated with higher doses of injected corticosteroid. Media...

J Clin Oncol. 2022 May 1;40(13):1439-1449. doi: 10.1200/JCO.21.01841. Epub 2022 Jan 19. PMID: 35044839Brief Summary: This retrospective study showed that children and young adults (< 45 years) treated with radioactive iodine (RAI) for primary Differentiated Thyroid Cancer (DTC) have increased risks for leukemia and solid cancers, particularly beyond 20 years after treatment.<p class="abs...

J Bone Miner Res. 2022 Feb;37(2):179-184.Abstract: https://pubmed-ncbi-nlm-nih-gov/34464000/In Brief: Fibroblast growth factor 23 (FGF23) and parathyroid hormone (PTH) both negatively regulate serum phosphate by increasing renal phosphate excretion. The clinical observation that both PTH and FGF23 are needed for adequate renal phosphate handling is confirmed in this experimental patient stu...