ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: N Engl J Med 2019;380:33–44This paper describes a large randomized, placebo-controlled trial of vitamin D3 (cholecalciferol) 2000 IU per day in 25,871 US adults. After median follow-up of 5.3 years, supplementation with vitamin D did not alter the risk of the primary end points, invasive cancer of any type hazard ratio, 0.96; 95% confidence interval [CI], ...

To read the full abstract: Cell. 2018 Oct 18;175(3):665–678.e23.This article reports a critical role for the vagal gut-to-brain axis in motivation and reward amongst the sensory cells of the right vagal nerve. Optogenetic stimulation of the mouse vagal gut-to-brain axis produced reward behaviors. Stimulation of gut-innervating vagal sensory neurons recapped the hallmark effects of s...

To read the full abstract: Sci Rep 2017; 22(7):12225The GH/IGF1 axis has historically been considered the most relevant regulator of growth. However, defects in the GH/IGF1 axis can be identified only in a minority of children with short stature. Human growth is dependent on chondrocyte proliferation and hypertrophy as well as structure and function of extracellular matrix in the gro...

To read the full abstract: J Bone Miner Res 2018;33(7):1260-1271Osteogenesis imperfecta (OI) is characterized by early-onset skeletal fragility, often short stature, blue sclerae and some other features. OI is caused by mutations in the two genes encoding type I collagen, namely COL1A1 and COL1A2. Some previous reports have indicated that when the mutation involves the C-propeptide cleavage site in e...

To read the full abstract: JAMA Pediatr 2018;172(7):646-654Vitamin D deficiency in infants can lead to impaired bone mineralization and rickets. Since the 1920s, vitamin D has been used to prevent and treat rickets, but the optimal supplementation dose for bone health was unclear. Similarly, potential extra-skeletal benefits of vitamin D in childhood have been inadequately explored. Ac...

To read the full abstract: J Urol. 2018 Apr 30. pii: S0022-5347(18)43073-X[Comments on 6.15 and 6.16] There is ongoing discussion regarding when extended genetic tests are indicated in DSD. There is also a discussion regarding what should be included in the definition of DSD. Are mild forms of hypospadias a type of DSD and where sho...

To read the full abstract: Nat Genet. 2018; 50(3): 355-361[Comments on 8.1 and 8.2] Primary aldosteronism (PA) is the most common form of secondary hypertension, affecting 3–5% of the general hypertensive population and 8–10% of patients referred to specialist hypertension services, although it is very rare in children (...

To read the full abstract: Science. 2017; 357(6346)Current textbooks teach that adrenergic chromaffin cells of the adrenal medulla originate from a sympathoadrenal cell lineage of the neural crest nearby the dorsal aorta. Here, Furlan et al. demonstrate a novel origin of these neuroendocrine cells of the medulla arising predominantly from Schwamm cell precursors (SCP) of peripheral nerves. Prev...

To read the full abstract: Sci Rep. 2017; 7(1): 7427Prenatal dexamethasone treatment has been suggested over three decades ago to prevent virilization of a female fetus affected with 21-hydroxylase deficiency due to genetic mutations in the CYP21A2 gene. However, current treatment guidelines for CAH regard this treatment still as experimental, mainly because follow-up studies of treated fetu...

To read the full abstract: JCI Insight. 2018;3(2). pii: 98394The (human) adrenal cortex undergoes massive changes in structure and function from fetal to postnatal life, with the first consisting of a small outer definitive zone and a larger inner fetal zone, and the latter finally consisting of three distinct layers, namely the zona glomerulosa (ZG), fasciculata (ZF) and reticularis (ZR). Ho...