ESPE Abstracts

Backgrounds: There is a no reliable population-based prevalence data of Down's syndrome (DS) in South Korea. In the present study, we try to estimate the incidence and prevalence of DS and cardiac complications in South Korea using data of National Health Insurance Service (NHIS) data and Rare Diseases Registry.Methods: We collected the data on DS patients who registered in the Rare Diseases Registry (RDR) between 20...

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...

Background: Congenital hyperthyroidism is a rare disease. In most patients with congenital hyperthyroidism are autoimmune forms caused by maternal thyroid-stimulating antibodies. In contrast to autoimmune hyperthyroidism that is transient, nonautoimmune form of congenital hyperthyroidism is persistent and results from activating germline mutations in the thyrotropin receptor (TSHR) gene.Case presentation: We report the case of a Korean male infant with s...

Objective: Ketosis-prone diabetes (KPD), characterized by presentation with diabetic ketoacidosis (DKA) in patients lacking the typical features of autoimmune type 1 diabetes, is a heterogeneous syndrome. The objective of this study is to ascertain the presence of A-β+ (autoantibody-negative, β-cell functional reserve) KPD in Korean children and adolescents and to study their characteristics in this group. Method: Diabetes ...

Purpose: We try to analyze the prediction capacity of variable factors to diagnose adrenal insufficiency.Methods: We analyzed clinical and laboratory data of 22 children (Male =13) who have been checked regular dose ACTH stimulation test for suspected symptoms after HSCT (Lymphoid leukemia=5, Myeloid leukemia=9, Non-malignant=8) at the Catholic HSCT center from Feb 2013 to Feb 2017 at Seoul St. Mary’s Hospital. A normal response of ACTH stimulation ...

Objective: We try to investigate the polymorphisms and amino acid variants of HLA-A, -B, -C, -DRB1, -DQB1, -DPB1 molecules in early-onset AITD.Methods: The genotypes of HLA-A, B, C, DRB1, DQB1, and DPB1 on AITD were analyzed in 102 Korean children with AITDs (Graves’ disease (GD)=62, Hashimoto’s disease (HD)=40) and 142 healthy control using sequence-based typing. Analysis of variant amino acids was performed across the genotyping results with ...

Background: Central precocious puberty (CPP) may result from organic lesions, but it is most frequently of idiopathic origin in girls.Objective and hypotheses: The objective of the study was to identify central nervous system abnormalities in girls with CPP.Method: This retrospective study was performed in 3-tertiary care hospitals between 2005 and 2015. During this period, 200 girls with CPP performed brain magnetic resonance imag...

Background: The Toll-like receptors (TLRs) are germline-encoded receptors that play an essential role in initiating the immune response against pathogens.Objective and hypotheses: In this study, we assess the association of TLR polymorphism with autoimmune thyroid disease (AITD) in Korean children.Method: Seven Toll-like receptor genes (TLR-1, -2, -3, -4, -5, -6, -9) including 15 single-nucleotide polymor...

Background: South Korea is one of the adequate or excessive iodine nutritional state countries and high-iodine intake is related to papillary thyroid cancer. The prevalence of thyroid cancer of South Korea has increased and the proportion of thyroid papillary cancer has increased as 97.9–98.3% in 2010. Childhood thyroid cancer is rare, and the prevalence of thyroid cancer in pediatric population was reported as 20–26% of thyroid nodules worldwide. However, there have...