ESPE Yearbook of Paediatric Endocrinology

Brief summary: In this double-blind, randomized clinical trial conducted in 6 US centres, 88 children and adolescents (aged 7–17 years) with newly diagnosed type 1 diabetes (T1D) were randomized to either once-daily oral verapamil or placebo, within 1 month from diagnosis. Treatment with verapamil led to better stimulated C-peptide secretion at 52 weeks post-diagnosis, with levels 30% higher compared to placebo.Verapamil is a calcium channel blocker...

To read the full abstract: PLoS One. 2019; 14(12): e0226753. PMID: 31869387.Glucocorticoids (cortisol in humans, corticosterone in most rodents) are steroid hormones secreted by the adrenal cortex into the systemic circulation in an ultradian, circadian, and stress-related fashion under the control of the hypothalamic-pituitary-adrenal (HPA) axis. These cholesterol-derived molecules partici...

Int J Obes (Lond). 2021;45(1):66–76. doi: https://doi.org/10.1038/s41366-020-00673-6This study investigated the influence of MC4R variants on treatment effectiveness in a large cohort undergoing an outpatient treatment program. Carriers of MC4R loss-of-function (LoF) variants showed a lack of improvement in BMI, in contrast to non LoF carriers.As we learn th...

To read the full abstract: J Clin Endocrinol Metab 2017; 102:1702-1711Short stature is a common feature of children with Prader-Willi syndrome (PWS) as well as hypotonia, hyperphagia, obesity, hypogonadism, behavioral disturbances and hypothalamic dysfunction. Alterations in the GH/IGF1 axis are common in patients with PWS, GH deficiency occurring in approximately 74% and IGF-1...

Diabetes Care. 2020; 43:82–89. doi: 10.2337/dc19-0747.It is often difficult to identify maturity-onset diabetes of the young (MODY) in pediatric patients close to diabetes onset. Hence, misdiagnosis and unnecessary insulin treatment are still common.This study reports the discriminatory clinical features at diabetes onset in Swedish pediatric patients (age 1–18 y...

To read the full abstract: Best Pract Res Clin Endocrinol Metab. 2020:101418. PMID: 32414619.Cushing’s syndrome (CS) is the constellation of signs and symptoms resulting from excessive exposure to cortisol (1). While exogenous CS is relatively common, endogenous CS accounts for only 2.3 to 3.2 new cases per million per year; 10% of these present in children (2–4). Endogenous CS is...

Hum Reprod. 2020 Oct 1;35(10):2312–2322. 10.1093/humrep/deaa185. PMID: 32862222. https://academic.oup.com/humrep/article/35/10/2312/5899242In brief: This study shows that both the GnRH stimulation test and serum inhibin B have insufficient specificity to discriminate congenital hypogonadotropic hypogonadism (CHH) from c...

ISPAD Jenious Group. Pediatr Diabetes. 2021;22:1115-1119. https://pubmed.ncbi.nlm.nih.gov/34741569/Brief Summary: This cross-sectional survey describes healthcare professionals’ (HCPs) experiences of telemedicine use in diabetes centers across the world, along with the adaptations and challenges associated with its implementation.This is one out of several public...

Metabolism. 2022 Apr;129:155141. doi: 10.1016/j.metabol.2022.155141. Epub 2022 Jan 22. PMID: 35074314. https://www.metabolismjournal.com/article/S0026-0495(22)00019-1/fulltextBrief Summary: the authors used pharmacological and transgenic models to demonstrate the role of GRK2, G protein coupled-recept...

To read the full abstract: N Engl J Med 2017;377:633-643Proprotein convertase subtilisin/kexin type 9 (PCSK9) regulates levels of plasma LDL-C by interacting with the LDL receptor. After binding and internalization, PCSK9 directs the LDL receptor to lysosomal degradation and inhibits its recycling to the cell surface, and thus accelerates the degradation of hepatic LDL receptors. This reduces the ...