ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: JAMA. 2017;318:1358-1366Here, the authors compared the metabolic control in young patients with T1DM with insulin pump therapies versus multiple injection treatment modalities using the data from 30 579 patients younger than 20 years of age of 446 centers in a prospective population-based cohort study. While it is very clear that pump therapy, compared with injection ...

To read the full abstract: Nature 2018;555:210Up to now, it was thought that genetics would play a major role in shaping the gut flora. However, this study, in a cohort of 1,046 healthy Israeli individuals with a well-defined clinical phenotype, suggests that only 2-8% of human microbiome variability is explained by genetics, as compared to 92-98% explained by environmental influences. This...

In Brief: Growth plate and articular cartilage have similar structures composed of distinct chondrocyte layers but they differ substantially with respect to their function and fate. This study combines transplantation experiments with cell tracing in rat with in vitrostudies to identify a novel mechanism by which synoviocytes act directly on chondrocytes to suppress endochondral and promote articular cartilage at the joint surface.Commentary: Gr...

Brief summary: This prospective observational cohort study determined leukocyte telomere length (LTL) in 76 patients with genetically confirmed CAH (83% classic CAH). LTL was shorter in patients with classic vs nonclassic CAH, in overtreated than in optimally treated patients, and patients receiving prednisolone compared with hydrocortisone.Telomeres are tandem repeats of a noncoding hexameric nucleotide sequence (5′-TTAGGG-3′) located at the...

Brief summary: This retrospective case-control observational study assessed body composition of children with non-classic congenital adrenal hyperplasia (NCCAH) using bioelectrical impedance analysis (BIA). It showed that children with NCCAH have an imbalance between muscle and fat tissues compared with control subjects, which may place them at increased risk for early-onset cardiometabolic morbidity.Non-classic congenital adrenal hyperplasia (NCCAH) is ...

Nat Commun. 2021 Feb 11;12(1):959.https://pubmed.ncbi.nlm.nih.gov/33574239/The authors report a genome-wide association study (GWAS) of autoimmune Addison’s disease (AAD) in 1223 cases (defined as autoimmune adrenal failure plus positive serum autoantibodies against 21-hydroxylase) and 4097 healthy controls. Patients with APS-1 were identified and excluded. They identified 9 genome-wid...

Clin Genet. 2020 Sep;98(3):303-307. doi: 10.1111/cge.13805. PMID: 32617964.In this case series, David et al. describe clinical features of 4 patients in 2 unrelated consanguineous families with TTC26 ciliopathy due to a homozygous c.695A>G p.Asn232Ser mutation. Three of the patients had MRI findings consistent with pituitary stalk interruption syndrome (PSIS), a congenital anomaly o...

J Clin Endocrinol Metab. 2021;106(1):e1–e10. doi: 10.1210/clinem/dgaa510. PMID: 32816013This prospective observational study on a cohort of 255 adolescents with anorexia nervosa (AN) aimed to investigate the effects of nutritional restriction on linear growth and adult height. Whereas premorbid height did not differ from reference standards, girls with AN showed a mild but significantl...

J Clin Endocrinol Metab 2021; 106(3):814–825.https://pubmed.ncbi.nlm.nih.gov/33236103/Here, the authors performed a randomized, 12-week, crossover study in order to assess cortisol metabolism during dual-release hydrocortisone (DR-HC) and conventional hydrocortisone (TID-HC) therapy in patients with primary adrenal insufficiency (n=50). Healthy controls (n=124) were i...

Nature. 2021 Jul;595(7867):455-459.Abstract: https://pubmed-ncbi-nlm-nih-gov/34194040/In brief: Using cryo-electron microscopy, the calcium-sensing receptor (CaSR) is visualized with different ligands demonstrating, in great detail, how calcimimetic drugs lock the CaSR homodimer in an assymetric configuration, exposing one of the two protomers for G-protein coupling, whereas calciolytic dru...