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...

Purpose: Our previous study showed no correlation between -202 A/C IGFBP-3 promoter polymorphism and Δheight SDS in children with growth hormone deficiency. We investigated the influences of the -202 IGFBP-3 polymorphism on 1-year follow-up outcomes of GH treatment in Korean children with ISS.Methods: Data was obtained from 81 children with idiopathic short stature (peak serum growth hormone (GH) ≥ 7.0 ng/mL b...

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is caused by a deficiency in GnRH production, secretion or action and a highly heterogeneous disorder with wide phenotypic spectrum including Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). More than 30 different causative genes have been identified in several studies. FGFR1 mutations have been identified in about 3–10&#3...

Purpose: Vitamin D deficiency (VDD) is very common nowadays in children as well as in adults, probably due to decreased exposure to sunlight. In Korea, the prevalence of VDD was 47% in teenage boys and 65% in teenage girls. However, the optimal dosage regimen for correcting deficiency is unknown. We investigate the change of serum 25(OH) vitamin D concentration according to the treatment dosage and duration in VDD.Methods...

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...