ESPE Yearbook of Paediatric Endocrinology

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...

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...

To read the full abstract: Diabetes Care. 2017;40:920-927Breast feeding has been identified as one albeit weak protective factor protecting from the development of for example obesity, autoimmune disease and in particular T1DM. The mechanisms of this preventive effect are not known. One explanation might still be a confounding effect of social status, overall healthy lifestyles in the families in who...

To read the full abstract: PLoS One. 2018;13:e0191360Up to now most studies to prevent autoimmune T1DM have focused on directly suppressing the autoimmune response rather than to better understanding the intrinsic requirements for beta cell survival. In this trial intracellular heparan sulfate was investigated as an essential requirement for the survival of beta cells and a marker for beta...