ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Cereb Cortex. 2020; 30(5): 2777–2788. PMID: 31819952.Congenital adrenal hyperplasia (CAH), most commonly caused by 21-hydroxylase deficiency, is an autosomal recessively inherited life-threatening impairment in cortisol and, in the severe salt wasting form, aldosterone synthesis. The implementation of neonatal screening programs for CAH and the continuous imp...

To read the full abstract: Pediatr Diabetes. 2020 Mar;21(2):319–327. doi: 10.1111/pedi.12971. Epub 2020 Jan 3. PMID: 31885123Dissatisfaction with technologies, discontinuation of use and inappropriate adjustments of insulin pump settings pose important areas of concern in adolescents using diabetes technologies. This study searched for predictors of hybrid closed loop (HCL) discontinuation...

To read the full abstract: Diabetes Care. 2019;42(9):1816–23. doi: 10.2337/dc19-0430Short summary: In this longstanding cohort study (n =1718), high intraindividual variability over time in BMI and in HDL-C during childhood, independent of their mean levels, conferred an increased risk of later-life diabetes.Comment: Intraindividual variabil...

To read the full abstract: JAMA Pediatr. 2019 Oct 21;173(12):1137–45. doi: 10.1001/jamapediatrics.2019.3544.The authors describe a randomised controlled trial to decrease risks of sensitization to cow’s milk protein by avoiding supplementation with cow’s milk formula at birth. The trial included 330 newborns in Japan, where the practice of supplementing breastfeedin...

To read the full abstract: Elife 2019;8:e43999.Two populations of Kisspeptin neurons are described in the hypothalamus. One population is located in the rostral part of the hypothalamus (the anteroventral periventricular nucleus, AVPV); the other is in the arcuate nucleus (ARC). The major difference between these populations is the opposing effects of 17b-estradiol (E2) on Kiss1...

To read the full abstract: J Clin Endocrinol Metab. 2018;103:3720–28.This nationwide prospective surveillance study aimed to estimate the performance of the current UK recommended TSH threshold (10 mU/L on day 5 after birth) for newborn blood spot screening compared to lower thresholds: 8 mU/L and 6 mU/L. Over a 12-month period, the authors included all patients with positive TSH ba...

Abstract: Dis Model Mech. 2018 Oct 1; 11(10): dmm035691.In brief: Generalized arterial calcification of infancy (GACI) is a severe, rare disease characterized by excessive calcification of large and medium sized arteries caused by homozygous loss-of-function mutations in ENPP1. Here, in Enpp1 deficient mice, treatment with recombinant hu...

To read the full abstract: Pediatr Diabetes. 2018 Nov;19(7):1221–1228Despite good metabolic control some patients with type 1 diabetes (T1D) may develop comorbidities early while others despite high HbA1c levels remain free of complications for long durations. Risk factors for T1D complications are both of intrinsic (e.g. genetic) and extrinsic (e.g. environmental) origin. Amongst t...

To read the full abstract: JAMA Pediatr 2019;173:160–168This paper describes a large population-based cohort of women in New Zealand who received metformin (n=1996 women) or insulin (n=1932) for treatment of gestational diabetes mellitus (GDM). There were no differences between the two groups in any measure of offspring childhood hei...

To read the full abstract: Development 2017; 144:3533-3546Endochondral ossification is the process by which the embryonic cartilaginous scaffold of most bones is gradually replaced by bone. During this process chondrocytes proliferate, undergo hypertrophy and maturation and form the growth plate, essential for bone growth. Postnatal bone growth is tightly regulated by both systemic and lo...