ESPE Yearbook of Paediatric Endocrinology

Pediatrics. 2020 Sep;146(3):e20200265. doi: 10.1542/peds.2020-0265. PMID: 32778539.In brief: This cross-sectional analysis of a nationally representative US sample showed that 25.5% of US children and adolescents (10.6 million in 2016) are eligible for screening for diabetes according to American Diabetes Association (ADA) criteria. The eligibility criteria showed l...

To read the full abstract: Diabetes Care. 2017;40:1249-1255Children and adolescents who present in ketoacidosis at manifestation of the disease might represent a subgroup of patients that may have less resilience factors in their families, less adherence to medical advice, might be less attentive to medical symptoms and might be less knowledgeable of medical issues. In addition, they may carry biolog...

World J Diabetes. 2020;11(10):400–415. doi: 10.4239/wjd.v11.i10.400Based on a review of the proposed mechanisms of the development of T1DM, the authors provide an overview of oral tolerance therapies for T1DM conducted in both animal models and clinical trials. This key paper also outlines its future perspectives.As a mainly T cell-mediated autoimmune disease, T...

To read the full abstract: J Clin Endocrinol Metab. 2020 Aug 1;105(8):dgaa274.This retrospective study evaluated the long-term effects of GH treatment (median duration 6.7 years) in 63 girls with Turner syndrome (TS) whose GH doses were titrated to maintain IGF-I levels within the normal range. The median GH dose to maintain normal IGF-I levels was 33 (g/kg/day. Across all TS karyotypes, IGF-I titrated GH dosing led to a median adult height (AH)...

Brief summary: The authors used data from the Global Burden of Disease 2019 to examine the incidence, disability adjusted life years and mortality of early onset type 2 diabetes T2D) in those 15–39 years of age. This showed that early onset T2D is a growing global health problem in adolescents and young adults, particularly in low-middle- and middle-income countries.Early onset of type 2 diabetes (T2D) is associated with longer lifetime exposure hyp...

Cell Stem Cell. 2022 Feb 3;29(2):328-343.e5. doi: 10.1016/j.stem.2021.11.009. PMID: 34879244.Brief Summary: By applying single-cell RNA sequencing (scRNA-seq) to 112,376 cells of human hypothalamus ranging from 7–20 gestational weeks (GW7–20), the authors produced a spatiotemporal transcriptome atlas of human hypothalamus development and revealed critical regulatory genes control...

To read the full abstract: PLoS Med. 2019 Oct 1;16(10):e1002926. doi: 10.1371/journal.pmed.1002926.The authors analysed a huge dataset from the Chinese national programme of preconception health checks, which include measurements of fasting plasma glucose. Overall, 13.15% (n =847,737) had impaired fasting glucose and 1.18% (n =76,297 women) had diabetes, of whom only...

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...

Epigenomics. 2021 Aug;13(15):1221-1230. doi: 10.2217/epi-2021-0096. PMID: 34337972.Brief Summary: This case cohort study assessed whether epigenetic factors explain the link between gestational diabetes mellitus (GDM) and macrosomia. Epigenetic changes in the MEST gene were associated with both GDM and macrosomia.GDM leads to neonatal macrosomia and in the long-t...

J Clin Endocrinol Metab. 2022; dgac271. PMID: 35512387 https://pubmed.ncbi.nlm.nih.gov/35512387/Brief Summary: This study, in a series of independent patient cohorts, developed and validated a clinical score, based on the circulating concentrations of 13 major steroid hormones, to detect and subtype Congenital Adrenal Hyperplasia (CAH).Steroidogenesis is a complex proc...