ESPE Yearbook of Paediatric Endocrinology

Medicine (Baltimore). 2020 Sep 25;99(39):e22389. doi: 10.1097/MD.0000000000022389. PMID: 32991460.In this relatively small study (6 placenta) the placentas from mothers of infants born large for gestational age (LGA) were compared to placentas of appropriate gestational age (AGA) infants for changes in genome wide DNA methylation. There were significant differences in the specific meth...

J Clin Endocrinol Metab. 2020;105(10):dgaa491. doi: 10.1210/clinem/dgaa510. PMID: 32816013This study describes the clinical characteristics of an extended family with novel NPR2 mutations. The family was an Ashkenazi Jewish family with no history of consanguinity and included two sisters with compound heterozygous NPR2 missense mutations causing acromesomelic dysplasia Mar...

Metabolism. 2020; 112: 154354.https://pubmed.ncbi.nlm.nih.gov/32916150/In order to better define treatment groups and improve treatment monitoring, the authors performed a retrospective metabotyping analysis using 24-h GC–MS urinary steroid metabolome measurements in young prepubertal children (n=109; age 7.0–1.6 years) with classical congenital adrenal hyperplasia (CAH) ...

Cochrane Database Syst Rev. 2021 Dec 21;12(12):CD013309. doi: 10.1002/14651858.CD013309.pub3. PMID: 34931697.Brief Summary: This systematic review assessed the evidence for continuous glucose monitoring (CGM) to prevent morbidity and mortality in preterm infants. There was uncertainty about the safety of CGM and the available management algorithms, and many morbidities remain unreporte...

NIDDK Type 1 Diabetes TrialNet Study Group.Diabetes. 2022 Apr 1;71(4):610-623. https://pubmed.ncbi.nlm.nih.gov/35316839/Brief Summary: This is a comprehensive review on general population screening, a current hot topic in the field of type 1 diabetes (T1D). The authors provide a critical overview of the rationale for population screening, arguments for and against it, current efforts to gui...

Cell Metabolism 2022;34(5):667-80.e6. doi: 10.1016/j.cmet.2022.03.006Brief Summary: In preclinical models and a phase 1 trial, a powerful new lipid small molecule was shown to act through a mechanism distinct from those of known hypolipidemic agents. Targeting HNF-1α may be a new therapeutic strategy.Comment: Familial hypercholesterolemia (FH) is the most common...

To read the full abstract: Eur J Endocrinol. 2019 Oct;181(4):R155–R171. doi: 10.1530/EJE-19-0298. PMID: 31370006.Transition is described as the planned process of transferring care from pediatric to adult healthcare services. Recent recommendations by various medical associations underline that preparation of adolescents and their parents, consideration of the adolescent’s developmen...

To read the full abstract: PLoS Medicine vol. 16,12 e1002986. 2 Dec. 2019. doi: https://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1002986This large scale population-based cohort study identifies a slightly higher risk for adult fracture in men who had later puberty. The pubertal period plays a key role...

To read the full abstract: Diabetes Care. 2020. doi: 10.2337/dc20-0723Short summary: In this observational cohort of hospitalised COVID-19 patients in Italy, patients who had hyperglycaemia, with or without diabetes, were at higher risk for severe COVID disease than normoglycaemic patients. Insulin infusion was effective for achieving glycaemic targets and reducing mortality in patients...

To read the full abstract: Science 2019;366(6464):447-53. doi: 10.1126/science.aax2342Short summary: Dissecting racial bias in health care systems revealed that a type of software program, which determines who receives access to high-risk health care management, routinely accepts healthier whites ahead of blacks who are less healthy.Comment: The yea...