ESPE Abstracts

Background: Prader-Willi syndrome (PWS) is a genetic disorder associated with developmental delay, obesity, and obsessive behavior related to food consumption. Treatment options for weight control in those patients is limited and there are controversies for a surgical approach. Saxenda® (liraglutide) injection 3 mg is indicated as an adjunct to a reduced-calorie diet and increased physical activity for chronic weight management in adult patients with obes...

Background: Genetics plays a strong role in height. However, for most patients, no cause for the short stature can identified. Whole-exome sequencing (WES) is becoming an increasingly important tool for detecting novel genetic causes of short stature. Blood is the preferred DNA source for germline studies using WES. However, DNA from saliva is a more convenient and cost-effective alternative.Objectives: We aim to identif...

Purpose: This study aimed to describe gene mutations and growth outcome in patients with 21-hydroxylase deficiencyMethods: Subjects were diagnosed as 21-hydroxylase deficiency by direct Sanger sequencing or multiple ligation-dependent probe amplification analysis and visited Pusan National University Children's Hospital from July 2008 to April 2019.We investigated the genotype, phenotype and growth profiles.<p cl...

Background: Glucocorticoids play a major role in the treatment of lymphoblastic lymphoma. However, supraphysiological glucocorticoid therapy may cause the secondary adrenal insufficiency.Presentation of case: A 11-year-old boy with T cell lymphoblastic lymphoma, treated according to COG A5971 protocol, experienced sudden onset of tremor and general weakness in the first day after tapering 28 days of glucocorticoid therapy. He had a moon face and pigmenta...

Introduction: Hypothyroidism without elevation of thyroid-stimulating hormone level during oxcarbazepine use in children and adolescent. There have been studies on the association of oxcarbazepine, which is used as an anticonvulsant, with hypothyroidism, but studies in children and adolescents have been limited. The authors aimed to determine the effects of long-term oxcarbazepine on thyroid function in children and adolescents.M...

Background: Adiponetin is considered a protective hormone exhibiting beneficial effects against insulin resistance, cardiovascular disease, and cancer. Non-alcoholic fatty liver disease (NAFLD) is considered the hepatic component of insulin resistance. Pharmacological activation of adiponectin signaling might be helpful for treatment of NAFLD, but it is difficult to develop the whole adiponectin protein as a drug because the C-terminal globular domain of adiponectin is extreme...

Background: A subset of central obese but normal weight individuals has been identified, who harbor potentially increased risks for development of MS despite a normal BMI.Objective and hypotheses: We try to evaluate metabolic syndrome (MS) components of normal weight central obese adolescents in Korea stratified by waist-to-height ratio (WHR).Method: This is a cross-sectional study. Data were obtained from the Korean National Healt...

Background: Leptin has a major role in the metabolic gating of pubertal maturation. Kisspeptin is an essential gatekeeper of puberty. Neurokinin B (NK B) is not widely known in the precocious puberty (PP) but it is coexpressed with kisspeptin in the arcuate nucleus and synchronizes the pulsatile secretion of kisspeptin.Objective and hypotheses: Leptin, kisspeptin, and NK B are influenced by energy balance and metabolic status has a clear impact on the ti...

Background: Treatment goals for central precocious puberty (CPP) in girls include preventing short final height due to early epiphyseal closure, and avoiding premature onset of menarche.Objective and hypotheses: Our aim was to evaluate the timing of menarche and the associated factors among patients with idiopathic CPP or early-onset puberty (EP) who were treated with GnRH agonists (GnRHa).Method: We analyzed clinical and laborator...

Background: Hyperglycemia and dyslipidemia are metabolic abnormalities commonly found in type 1 diabetes.Objective and hypotheses: Limited data are available on the relationship between glycemic control and dyslipidemia in patients with type 1 diabetes. We aimed to investigate the incidence of dyslipidemia and its association with glycemic control in adolescents and young adults with type 1 diabetes.Method: This cross-sectional stu...