ESPE Abstracts

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: To examine the association of Insulin-like growth factor-1 (IGF-1) and binding protein-3 (IGFBP-3) with metabolic parameters of childhood obesity and assess its relationship with the presence of metabolic syndrome (MetS)Methods: A cross-sectional study of total 307 children and adolescents referred for growth assessment was performed. Subjects were divided into three groups based on body mass index (BMI) percent...

Background: Management options are limited for the treatment of Graves' disease (GD) in children and adolescents. Antithyroid drugs (ATDs) remain the first-line therapy in patients with GD, despite a high relapse rate. We investigated the clinical characteristics, treatment, the outcome, and predictors of a remission of children and adolescents with GD at a single center.Methods: We retrospectively reviewed the medic...

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...

Purpose: Multiple endocrine neoplasia (MEN) is a rare, autosomal dominantly inherited cancer syndrome caused by a mutation in MEN1 or RET gene. Identification of the genetic causes of the MEN is critical because genotype provides information on timing of prophylactic surgery in patients with MEN type 2 who have clinically silent tumors. Therefore, this study investigated clinical phenotype and molecular characteristics of children with MEN in...

Bacground and objective: Idiopathic infantile hypercalcemia is one of rare diseases characterizing hypercalcemia in infancy. Renal phosphate absorption in proximal tubules plays a very important role in the phosphate and calcium homeostasis. SLC34A1 is known a key regulator of renal phosphate reabsorption. SLC34A1 gene mutation is one of very uncommon causes of idiopathic infantile hypercalcemia. We have experienced a case of idiopathic infantile hypercalcemia caused by a homo...

Purpose: Type 1 diabetes mellitus (DM) is the most common cause of diabetes in children and adolescents. Prevalence of monogenic DM is estimated for about 1%–5% of all patients with DM. Overlapping clinical features of various forms of diabetes make differential diagnosis challenging. This study was performed to investigate frequency and genetic etiologies of monogenic diabetes in a single academic center.Methods: This study included 466 consecutive...

Background and objective: It has been reported that glycemic control gets better in children with T1DM on insulin glargine and lispro when compard to patients on NPH and RI. This study was conducted to see the changes of glycemic control after switching from insulin glargine and lispro (GLAR/LIS) to NPH and RI (NPH/RI) in Korean children with T1DM.Materials and methods: We studied 14 patients who were diagnosed with T1DM in Kyungpook National Children&#1...

Background: In this study, we aimed to investigate the relationship between single-gender Korean references for non-high-density-lipoprotein cholesterol (non-HDL-C) and metabolic syndrome (MetS) in childhood.Methods: A total of 5,742 Korean children aged 10–18 years who participated in a national survey were included. The subjects were classified into three groups based on single-gender non-HDL-C levels as follows: <120 mg/dl (desirable), &#8805...

Background: Humans are exposed to a variety of endocrine disruptors (EDs), including phthalates and phenol substitutes, in daily life. Previous studies have suggested the association between individual EDs and the risk of obesity, however, studies on the effects of multiple EDs have been extremely limited. We investigated the associations of urinary 12 phthalates, 3 polycyclic aromatic hydrocarbons, and 26 phenol substitutes with adiposity measures in Korean girls.<p class...