ESPE Yearbook of Paediatric Endocrinology

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...

To read the full abstract: Hum Mol Genet. 2019, Jul 15; 28: 2319–29. doi: https://academic.oup.com/hmg/article/28/14/2319/5424416This study provides evidence that MYRF is important in the development of coelomic endothelial derived cells, and early gonadal development in both males and females. It combines detailed phenotypic assessment of patients and whole geno...

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: 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...

J Clin Endocrinol Metab. 2021 Jul 13;106(8):2279-2290. doi: 10.1210/clinem/dgab331. PMID: 33982055.Brief Summary: This prospective birth cohort study assessed the impact of maternal glycaemia on infant neurodevelopment at 12 months of age. Maternal glucose levels during pregnancy were associated with infant neurodevelopmental outcomes.High maternal blood glucose levels m...

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...

To read the full abstract: Endocrine. 2018 Jul; 61(1):76Hematopoietic stem cell transplantation (HSCT) is a curative treatment for life-threatening malignancies. However, late HSCT adverse effects cause substantial morbidity among long-term survivors. Metabolic complications, such as diabetes mellitus and hyperlipidemia, are the major late effects of pediatric HSCT, but the pathogenesis ...

Brief summary: This study evaluated the ability of genetic risk scores to predict severe obesity in adult survivors of childhood cancer. Data from 2548 survivors of European ancestry from the St. Jude Lifetime Cohort Study was analyzed and findings were validated in 6064 survivors from the Childhood Cancer Survivor Study. Survivors with higher genetic risk scores had significantly higher odds of severe obesity. Adding genetic risk scores to prediction models that included canc...

Mol Cell Endocrinol. 2021 May 1;527:111218. doi: 10.1016/j.mce.2021.111218. PMID: 33636254This study used a high fat and high sucrose diet to generate obese mice. The offspring of these mice showed activation of the unfolding protein response and the heat-shock response in the hypothalamus as early as weaning. This was associated with malformed paraventricular nucleus axonal projections ...

Pediatr Blood Cancer. 2020; 67: e28617. https://pubmed.ncbi.nlm.nih.gov/32715632/This retrospective single-centre study aimed to develop a final height prediction model based on data from 212 long-term survivors (aged 5-20.4 years) of childhood central nervous system (CNS) tumors who received craniospinal irradiation (CSI) and with a median follow up of 10.2 years. Mean fin...