ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3). pii: dgz216. doi: 10.1210/clinem/dgz216. PMID: 31769495.Septo-optic dysplasia (SOD) involves a combination of midline brain defects, pituitary hormone deficiency, and optical nerve hypoplasia. The etiology of SOD is multifaceted; genetic factors are known to play a role, yet the vast majority of SOD patients remain withou...

To read the full abstract: N Engl J Med 2019;380:23-32.Summary: In this randomized primary prevention placebo-controlled trial of 25,871 US adults, with a two-by-two factorial design, supplements with omega-3 did not lower the overall incidence of adverse cardiovascular events or cancer compared to a placebo.Comment: Omega-3 fatty acids are polyun...

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: 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: 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: Lancet Diabetes Endocrinol. 2018; 6(3): 173-185Adrenal insufficiency (AI), caused by adrenal failure (primary) or hypothalamo-pituitary failure (secondary), has a prevalence of 250–450 per 1 million (16). AI is potentially life-threatening and requires lifelong glucocorticoid replacement therapy. Modified-release hydrocortisone preparations have bee...

To read the full abstract: JCI Insight. 2018; 3(8). pii: 98296Adrenocortical cells depend on cAMP/PKA signaling for growth and steroidogenesis. Several adrenal disorders manifesting with Cushing syndrome (CS) are due to activation of the PKA pathway, including Carney complex and primary pigmented nodular adrenal disease (due to germline mutations of PRKA1RA), McCune-Albright syndrome (due to ...

To read the full abstract: J Pediatr Gastroenterol Nutr. 2017;65:293-298Growth deceleration and impaired pubertal growth spurt are common concerns in patients with early onset inflammatory bowel disease (IBD) (1-2). Previous studies confirmed the efficacy and safety of infliximab, an anti-tumor necrosis factor alpha (TNF-α) antibody, in achieving clinical remission in luminal Crohn&#8...