ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Horm Res Paediatr: 2018;89(6):413–422.This study examined the clinical and molecular aspects of girls with Turner syndrome and hyperinsulinaemic hypoglycemia (HH). Records of girls with hyperinsulinism and Turner syndrome were reviewed.The findings expand on previous observations suggesting a link between Turner syndrome and hyperins...

J Clin Psychiatry 2018;79.DOI: 10.4088/JCP.17m11607Summary: In a population-based prospective cohort study, based on the Taiwan National Health Insurance Research Database, 35,949 adolescents and young adults with attention-deficit/hyperactivity disorder (ADHD) had a higher risk of developing T2DM and had a shorter duration between enrollment and onset of T2DM ...

To read the full abstract: J Clin Invest 2018;128:1913-1918Two rare genetic forms of vitamin D–dependent rickets exist: VDDR-1 caused by mutations in the genes encoding either the renal 1-α hydroxylase (CYP27B1: VDDR-1A) or the hepatic 25-hydroxylase (CYP2R1: VDDR-1B) and VDDR-2 caused by mutations in the vitamin D receptor signalling due to mutations in the gene encoding the ...

To read the full abstract: Inflamm Bowel Dis. 2017;23:967-975Approximately one-third of children and adolescents with Crohn disease (CD) suffer from growth failure and delayed puberty, leading in some to psychological and social dysfunction, especially in boys. Pubertal delay in CD may also impact the normal growth spurt and lead to short adult height. The aim of therapy in children with C...

To read the full abstract: Cell 2017, Volume 171, Issue 2Here, the group of Jerrold Olefsky identified adipose tissue macrophages as important sources of microRNAs regulating metabolic processes not only within the adipose tissue depot, but also in an endocrine way in other distant tissues. The application of exosomes derived from ATMs isolated from obese mice caused insulin resistance both ...

Brief summary: In this study, 10 145 children of 1–8 years of age, selected from a prospective systematic cohort study and stratified according to HLA-risk categories for type-1-diabetes (T1D), underwent a combined evaluation of pancreatic autoimmunity, glucose metabolism and anthropometry at different timeframes. Diagnosis of T1D occurred in 131/10,145 children (1.3%). Faster height growth, both before and after age 3 years, was significantly associated with the appearan...

In Brief: The study established a novel rat model with a clinically relevant PLS3 mutation, which replicates the osteoporotic phenotype of early-onset PLS3-related osteoporosis. The findings suggest that treatment with alendronate or teriparatide improves bone mass and microarchitecture, suggesting their potential as effective treatments for early-onset osteoporosis caused by PLS3 mutations.Commentary: This study is an essentia...

To read the full abstract: Science 2018;360:1087-1092During the Cardiovascular Risk Survey in western China, a Kazakh family with inherited low levels of LDL-C was identified. The Kazakhs are mainly descendent from the Turkic and medieval Mongol peoples, they live in isolated regions and usually marry within their own ethnic group. They exhibit often unique differences in single nucleotide vari...

Brief summary: Using in-depth multi-omics analyses of human type 1 diabetes (T1D) samples, the authors profiled gut microbial functional and metabolic alterations. The T1D microbiota showed decreased butyrate production and bile acid metabolism and increased lipopolysaccharide (LPS) biosynthesis. Fecal microbiota transplantation in animal models proved that T1D gut microflora is a causative factor in the regulation of glucose metabolism.The etiology of T...

Brief summary: In this experimental study, genome editing and in vitro pancreatic differentiation of human pluripotent stem cells (SC) were used to generate ZNT8 loss-of-function (LOF) SC-β-cells. These cells showed accelerated functional maturation, increased insulin secretion and improved resistance to metabolic stress. Transplantation of ZnT8 LOF SC-β-cells into mice with preexisting diabetes significantly improved their glucose levels.<...