ESPE Yearbook of Paediatric Endocrinology

Ann N Y Acad Sci. 2018 Oct;1430(1):44–79. DOI: 10.1111/nyas.13968• This technical report reviews the global prevalence and public health disease burden of vitamin D deficiency.• Funded by the Bill & Melinda Gates foundation, the working group of content experts from North America and Europe provide a roadmap outlining population-based strategies to impr...

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: PLoS Med 2018;15:e1002681.These authors highlight a novel pregnancy risk factor, ‘late-pregnancy dysglycaemia’ in women who are obese but had normal glucose tolerance when they were tested for gestational diabetes mellitus (GDM) earlier in pregnancy. In a prospective cohort study of obese women without GDM (n<...

To read the full abstract: Pediatr Diabetes. 2018 May;19(3):388-392Mutations in FOXP3 are associated with a severe, early-onset, autoimmunity syndrome known in males known as IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked; OMIM [Online Mendelian Inheritance in Man] 304930). The gene maps to chromosome Xp11.23 and encodes a 431–amino acid protein, also named &#8216...

To read the full abstract: Diabetes 2017 Aug;66(8):2316-2322Biallelic mutations in the human lipopolysaccharide responsive beige-like anchor (LRBA) gene lead to a primary immunodeficiency known as LRBA deficiency, characterized early-onset hypogammaglobulinemia, severe autoimmune manifestations, enteropathy, lymphoproliferation, and recurrent respiratory tract infections. Neonatal diabetes mellitus (...

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: 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: Cancer. 2017;123:4207-4214Metabolic syndrome and early cardiovascular disease are well-known long-term complications of cancer treatment during childhood, but the underlying causes are still unclear. It had been already demonstrated that the abnormalities of the immune system, that are characteristic of the elderly population, may become evident earlier in childhood cancer...