ESPE Abstracts

Background: IDF-2007 MS definition (MS-IDF2007) for children and adolescents has been challenged frequently in clinical practice and should be improved further. Therefore, it becomes imminent to explore an accessible and effective tool to screen obese children with the metabolic syndrome components.Objective and hypotheses: To investigate the optimal cut-off values and compare the accuracy for the triglycerides and HDL cholesterol ratio and homeostasis m...

Background: The hypothalamic–pituitary–adrenal (HPA) axis, and cortisol in particular, has been reported to be involved in obesity-associated metabolic disturbances in adults and in specific populations of adolescents.Objective and hypotheses: To investigate the associations between serum ACTH and cortisol levels and cardiovascular risk factors in obese children and adolescents.Method: Of 1119 obese children and adolescen...

Introduction: Permanent neonatal diabetes mellitus (PNDM) is a rare disease which is defined as the onset of diabetes before the age of 6 months with persistence through life. Patients with KCNJ11 or ABCC8 gene mutations have the opportunity to switch to oral sulfonylurea therapy. There were limited studies about the genetic analysis and long-term follow-up of PNDM.Case report: We report four cases of this kind of PNDM, including their genetic mutations,...

Background: Hyperinsulinism is a common cause of persistent hypoglycaemia in infant. Insulin secretion from pancreatic β-cells is unregulated and inappropriate for the level of blood glucose, causing glucose into the insulin-sensitive tissues, such as the muscle, liver and adipose tissue, leading to hyperinsulinaemic hypoglycaemia. But congenital portosystemic shunt, a rare vascular malformation, can cause hyperinsulinaemic hypoglycaemia rarely because glucose from portal...

Introduction: The prevalence of renal anomalies in Turner syndrome (TS) has been reported to vary from 30 to 70%. However, the influence of renal anomalies on renal function and morbidity have been less well investigated. We evaluate the status of renal function and the presence of urinary abnormalities in early adult TS patients.Patients and method: Sixty-three girls with TS, who are attending Pediatric Endocrine Clinics in Busan Paik Hospital, were stu...

Background: Central precocious puberty (CPP) results from the premature pubertal activation of the hypothalamic-pituitary-gonadal axis before eight years for girls or nine years for boys. A systematic review and meta-analysis was conducted to evaluate the long-term efficacy and safety of leuprolide acetate (LA) 11.25mg 3-month formulation in children with CPP.Methods: A systematic search in PubMed and Embase was conducte...

Introduction: Estrogen treatment can be used for pediatric patients with Marfan syndrome who wish to control the rate of excessive height growth. However, the appropriate timing of treatment initiation is controversial and studies were limited. In this study, the authors aimed to find out when the initiation of estradiol therapy is most appropriate for controlling height growth rate in patients with Marfan syndrome.Methods:</stro...

Objectives: Prader–Willi syndrome (PWS) is the most common genetic obesity disorder and results from lack of gene expression on paternally inherited chromosome 15q11.2-q13. However, the factors regulating obesity in PWS are poorly understood. We aimed to characterize genetic alterations in PWS using whole genome microarrays to analyze gene expression, and to understand the molecular mechanisms of obesity in PWS patients.Met...

Context: Bartter syndrome (BS) is a group of rare autosomal-recessive tubulopathies characterized by hypokalemic, hypochloremic metabolic alkalosis in which the primary defect is a deficiency of transporters involved in sodium chloride reabsorption. Type 2 BS results from a defect in the renal outer medullary potassium channel encoded by the KCNJ1 gene. Type 2 BS presents with polyhydramnios, intrauterine growth retardation, prematurity, failure to thrive, pol...

Background: The incidence of non-alcoholic fatty liver disease (NAFLD) in children increased rapidly paralleled with the global burden of obesity and diabetes. Although most patients are nonalcoholic fatty liver (NAFL), once progress to nonalcoholic steatohepatitis (NASH), the risk of liver fibrosis and cirrhosis increase significantly. However, the pathogenesis of NAFLD, especially how NAFL progress to NASH is still unclear. Exosomal miRNAs have attracted att...