ESPE Yearbook of Paediatric Endocrinology

Brief summary: This paper reviews the associations between cellular iron, ferroptosis and diabetes. It also explores the therapeutic potential of ferroptosis inhibitors in the treatment of diabetic complications.Comment: Ferroptosis is a form of regulated cell death that is characterized by the decreased capacity of antioxidants and the accumulation of lipid reactive oxygen species (ROS).1 This, in turn, causes oxidative damage to cell membran...

Brief summary: Genome-wide small hairpin RNA screening revealed a specialized role for the protein phospholipase D6 (PLD6) located at and highly expressed in the outer mitochondrial membrane of cells in steroidogenic organs. Here PLD6 promotes the entrance of LDL/LDLR complex into the mitochondria where LDL-carried cholesterol is released for steroid hormone biosynthesis.Thereby the mitochondrial redox-sensitive CISD2 protein was found to support the trafficking of the LDL/LDL...

Nat Commun. 2018 Dec 14;9(1):5319.doi: 10.1038/s41467-018-07784-9. PubMed [citation] PMID: 30552336Initial steps in the sex determination of the (human) testis depend on SRY regulating SOX9, but the exact mechanism that controls SOX9 expression remains unknown. These authors discovered four overlapping copy number variations (CNVs) upstr...

Diabetes Care. 2020;43(11):e172–e173. doi: 10.2337/dc20-1633During the first phase of the COVID-19 pandemic, the DPV (the German diabetes registry database) study group asked whether or not the COVID-19 lockdown had affected the incidence of pediatric T1D in Germany (1). More than 210 German pediatric diabetes centers contributed their data on pediatric patients with T1D with an onset at ag...

J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4520-e4530. doi: 10.1210/clinem/dgab448. Erratum in: J Clin Endocrinol Metab. 2021 Nov 15;: PMID: 34160619https://academic.oup.com/jcem/article/106/11/e4520/6308284Brief Summary: This cross-sectional study of 355 girls with Central Precocious Puberty (CPP) evaluates t...

Nature. 2022;602(7895):162-8. doi: 10.1038/s41586-021-04312-6.PubMed ID: 35058638Brief summary: This study performed whole-genome sequencing (WGS) of 1013 clonal haematopoietic cell colonies from 12 adult patients aged 20–81 years with myeloproliferative neoplasms, a form of blood cancer. They identified 580 133 somatic mutations and used these to reconstruct haematopoietic clonal his...

To read the full abstract: JAMA Pediatr 2019; 173:953–960.Dietary proteins, such as gluten, have been suggested to serve as triggers of the autoimmune process that leads to type 1 diabetes (T1DM). These authors studied the potential associations of cereal, gluten, and dietary fiber intake with the development of islet autoimmunity (IA) and T1DM.The prospective birth cohort Finnish Type 1 Diabetes Prediction and Preven...

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) ...

Front Endocrinol (Lausanne). 2020; 11: 558897. https://pubmed.ncbi.nlm.nih.gov/33042019/This patient cohort study evaluated the prevalence of autoimmune thyroid diseases (AITDs), defined as decreased thyroid echogenicity in 61 children with Crohn’s disease, 25 infliximab (IFX)-naïve (control group) and 36 IFX-treated patients (mean duration of IFX therapy 13.9±16.6 months). T...

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...