ESPE Yearbook of Paediatric Endocrinology

katrinjs@stanford.edu Cell Metab 2021; 33(9): 1836–1852.e11http://www.ncbi.nlm.nih.gov/pubmed/34348115Brief Summary: This rodent study identified a novel adipokine in mice which triggers a signaling cascade similar to that of insulin. By acting via an unknown tyrosine kinase, isthmin-1 (ISM1) ameliorates metabolic disturbances associated wit...

Hum Reprod. 2018 Jul 6. [Epub ahead of print]. doi: 10.1093/humrep/dey229Childhood cancer treatment may compromise ovarian function in female childhood cancer survivors (CCSs), leading to delayed or arrested puberty, infertility, subfertility and adverse pregnancy outcomes. This Dutch nationwide retrospective cohort study collected measurements performed between 2008 and 2...

To read the full abstract: Proc Natl Acad Sci U S A. 2020; 117(4): 2187–2193. PMID: 31932420.Since their discovery ~70 years ago, glucocorticoids (GC) have been widely used to elicit a systemic anti-inflammatory response, and currently play a major role in the treatment of asthma and other inflammatory diseases (1). However, unresponsiveness to GC in some individuals i...

J Clin Endocrinol Metab. 2020;105:3203–3214. doi: 10.1210/clinem/dgaa443. PMID: 32652002The authors performed a large genome-wide association study (GWAS) to assess the role of common genetic variants in the response to GH therapy. A total of 614 children treated with GH were included: 276 with idiopathic GHD, 297 with ISS, and 41 born SGA. The findings implicate some novel mechanisms...

J Clin Endocrinol Metab. 2021; 106(11): e4666-e4679. PMID: 34146101https://pubmed.ncbi.nlm.nih.gov/34146101/Brief Summary: These clinical trials evaluated the safety and efficacy of tildacerfront, a CRF1R antagonist, in suppressing adrenal androgen secretion in adult patients with classical Congenital adrenal hyperplasia (CAH) during a treatment period of 12 weeks.<p class="abs...

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3):dgaa037.This study aimed to assess the frequency of natriuretic peptide receptor type B gene (NPR2 ) variants in 87 children with familial short stature (FSS) and evaluate their response to GH therapy. By applying whole-exome or custom-targeted NGS panel sequencing, NPR2 variants were found in 5 children (5.7%) belonging to 4 families. These variants were cla...

Brief summary: The authors designed a polygenic risk score (PRS) to aid in estimating disease susceptibility in patients with autoimmune Addison’s disease (AAD).Autoimmune Addison’s disease (AAD) is the most common cause of primary adrenal insufficiency (PAI) in adults. Despite its exceptionally high heritability, tools to estimate disease susceptibility in individual patients are lacking (1–3). The aim of this study was t...

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...

Brief summary: This international multicentre study collected data from 104 290 children and adolescents (6 months-18 years-old), to compare prevalence of diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes (T1D) before and during the COVID-19 pandemic. Prevalence of DKA at T1D diagnosis increased from 27.3% pre-pandemic to 39.4% during the pandemic, and the increased trends were associated with the pandemic containment measures.DKA is a life-thr...

Brief summary: The authors provide the first description of antagonistic hormone mutations as the cause of congenital disease in humans. The paper describes detailed characterizations of two novel, antagonistic leptin mutations underlying a formerly unrecognized form of congenital leptin dysfunction and delineate the challenges these mutations pose to the diagnosis and therapy of the disease.After the initial description of biologically inactive leptin v...