ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. Volume 105, Issue 4, April 2020, Pages e1561–e1568, PMID: 32126138Newborn screening techniques are being used to detect an increasing number of inborn errors of metabolism. The application of tandem mass spectroscopy has allowed for high-throughput simultaneous quantification of acylcarnitine species and amino acids. Establis...

Diabetes Care. 2020 Oct;43(10):2544–2552. doi: 10.2337/dc19-2164. PMID: 32778556.In brief: This cross-sectional study compared bone mineral density (BMD), lean body mass and abdominal visceral fat between 180 individuals with T2DM, 226 with obesity, and 238 with normal weight, aged 10–23 years. The findings suggest that T2DM in youth may have a detrimental effect on bone accru...

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: Science. 2017 Aug 18;357(6352):717-720See comment on 6.13...

To read the full abstract: Diabetes Care. 2020 Mar;43(3):526–533. doi: 10.2337/dc19-1013. Epub 2020 Jan 13. PMID:31932458Neonatal diabetes mellitus (NDM) is defined as diabetes that develops in the first 6 months of age. In Western countries, the most common causes of NDM are activating mutations in the KCNJ11/ABCC8 genes. Neurological dysfunction is also common (up to 30%) in pati...

To read the full abstract: Cell Rep 2019; 27(5): 1528–40These authors used FACS cell sorting, gene expression profiling, and metabolic and proteomic analyses to identify three distinct adipocyte progenitor cell (APCs) subtypes that reside in human white adipose tissues. Although they retain comparable differentiation capacity, they have different molecular profiles and give rise to ...

To read the full abstract: Science 2017:eaao1807Consanguinity is common in some modern cultures. This study examined the question whether ancient humans, who often had limited choices of mates, bred among close relatives. Here, Sikora et al. report genome sequences from 4 early humans buried close together in western Russia about 34,000 years ago. The individuals ...

To read the full abstract: J Clin Invest 2018;128:1913-1918Two rare genetic forms of vitamin D–dependent rickets exist: VDDR-1 caused by mutations in the genes encoding either the renal 1-α hydroxylase (CYP27B1: VDDR-1A) or the hepatic 25-hydroxylase (CYP2R1: VDDR-1B) and VDDR-2 caused by mutations in the vitamin D receptor signalling due to mutations in the gene encoding the ...

In Brief: Prolonged bisphosphonate treatment is associated with atypical femoral fractures (AFF). However, AFFs also occur in bisphosphonate-naïve patients, so bisphosphonate is not a prerequisite for AFF. This study found a higher yield of (likely) pathogenic variants in AFF patients with a clinical suspicion of monogenic bone disorder, stressing the importance of careful clinical evaluation of patients who present with this condition.Commentary: A...

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...