ESPE Abstracts

Background: As the human genome is further explored, multiple genetic anomalies at different loci are being found that confer varying degrees of predisposition to diabetes. MODY is the most common form of monogenic diabetes, accounting 2–5 percent of diabetes. Recently, we have found and reported three noble gene variants relating to MODY in Korean children (Shim et al, Horm Res Pediatr, 2015).Objective and hypotheses: This study was done to see the...

Introduction: The incidence of idiopathic nephrotic syndrome (NS) is 1.5~16.9 per 100,000 children. The cause remains unknown but the pathogenesis of idiopathic NS is thought to involve immune dysregulation, systemic circulating factors, or inherited structural abnormalities of the podocyte. NS is characterized by the triad of proteinuria, hypoalbuminemia, and edema. There can be an antecedent infection, typically of the upper respiratory tract. Moreover,...

Background: Children with bone-age advancement without any pubertal sign (asymptomatic precocious puberty, asmyptomatic PP) were reported (CW Ko,et al, at the Annual Meeting of ESPE, 2012 and 2013).Objective and hypotheses: In our follow-up study, some more children with asmyptomatic PP were enrolled additionally. We analysed their clinical and laboratory characteristics at the time of diagnosis, and they were followed-up prospectively t...

Background: Leptin is mainly produced by adipocytes. In animal and human, it is a potnet anorectic and increases in obesity. Some reported that precocious puberty is prevelent in children with obesity.Objective and hypotheses: This study was done to see the changes of blood leptin levels in both obese and non-obese children with early puberty or precocious puberty.Method: Study patients consist of 325 children with early puberty or...

Background: MODY includes a very heterogenous group of monogenic diabetes mellitus characterized by beta-islet cell dysfuction. We previously reported 3 new gene mutations of PTPRD, SYT9 and WFS1 in Korean MODY children (Horm Res Paediatr,2015). We investigated whether the PTPRD, SYT9 and WFS1 mutation overexpression vectors affect insulin synthesis and secretion in human pancreatic beta cells.Materials & Methods: We...

Background & objective: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by an early onset, autosomal dominant mode of inheritance and a primary defect in pancreatic β-cell function. MODY has been identified in Asian populations, however, there is a big discrepancy in the genetic locus between Asian and Caucasian patients with MODY. We previously reported that mutations in PTPRD, SYT9 and WFS1 have been identified in Ko...

Objective: To analyze the genetic cause of congenital hypothyroidism by targeted exome sequencing in pediatric patients with congenital hypothyroidism with thyroid gland in situ.Patient and Method: The study population comprised 20 patients with thyroid gland, who were diagnosed with congenital hypothyroidism at Pediatric Endocrinologic Clinic of Pusan National University Hospital. Targeted exome sequencing was ...

Objectives: Short stature is the main characteristics for Turner syndrome (TS) patients, and growth hormone (GH) therapy has been used as an essential treatment for developing final adult height. However, there are only a few studies on the difference responsiveness to GH therapy according to the karyotype of Turner syndrome in Korea. The aim of this study was to analyze the effect of different types of TS karyotype abnormality on the response of GH therapy.</...

Background: Metabolic syndrome and impaired bone health are common complications in childhood cancer survivors, and both are possibly related with decreased physical activities.Objective and hypotheses: We aimed to evaluate the prevalence rates of metabolic syndrome and osteopenia in adolescent/young adult childhood cancer survivors. We also aimed to investigate the relationship between physical activity and these complications.Met...

Background, Objective and hypotheses: GX-H9 is a hybrid Fc-based long-acting recombinant human growth hormone (hGH). The safety, tolerability, and PK/PD of single ascending dose in healthy volunteers were assessed to determine GX-H9 doses capable of normalizing IGF-1 level. The PK/PD, safety, efficacy and tolerability of multiple sequential doses of GX-H9 in adult growth hormone deficiency (AGHD) were compared to that of a daily recombinant hGH in AGHD. A Phase 2 study in pedi...