ESPE Abstracts

Introduction: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare condition characterized by symptomatic ACTH deficiency and primary hypogammaglobulinemia, caused by a heterozygous mutation in the NFKB2 gene (MIM#164012) on chromosome 10q24. We report the novel mutation of the NFKB2 gene in a Korean boy presenting with gait disturbance, calf pain, and abnormal thyroid function test.<s...

Purpose: Metabolic syndrome (MetS) is a state of chronic inflammation, and high-sensitivity C-reactive protein (hsCRP) indicates inflammation. This paper evaluates the association between hsCRP and MetS and its components in Korean children and adolescents.Methods: We analyzed the data of 1,247 subjects (633 males, 14.2 &pm; 2.7 years) from the Korea National Health and Nutrition Examination Survey (KNHANES) 2016-2017. T...

Background: Early age at menarche was associated with obesity, insulin resistance, metabolic syndrome, cardiovascular disease (CVD), and mortality in adulthood. Besides, a mother's age at menarche has been suggested to be a likely contributor to a daughter's early menarche. Therefore, this study aimed to determine whether a mother's earlier age at menarche is a risk factor for a daughter's early menarche, obesity, and short stature in young...

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...

Objectives: Obesity is a chronic low-grade inflammatory condition that increases the risk of cardiovascular disease. Elevated high-sensitivity C-reactive protein (hs-CRP) has been associated with cardiovascular disease, type 2 diabetes, and metabolic syndrome in adults. We investigated whether hs-CRP represents a risk factor for obesity and cardiometabolic diseases in Korean children and adolescents using nationally representative data.<...

Objective: To investigate whether earlier mother’s age at menarche is a risk factor of daughter’s early menarche, obesity, and short stature in young Korean female.Research design and methods: We tested associations between mother’s age at menarche, mother’s adult body size and her daughter’s age at menarche, body size from the data of 6th Korea National Health and Nutrition Examination Survey (KNHANES VI) (2013–2015). We an...

Background: Maturity-onset diabetes of the young (MODY) is one of monogenic diabetes caused by a single gene defect. To date, 13 MODY genes have been identified. However, there is big discrepancy in genetic locus between the Asian MODY patients and Caucasian’s one.Objective and hypotheses: We conducted the whole exome sequencing in Korean clinical MODY families to identify novel variants for MODY and compare the result with Caucasian’s one....

Background: GnRH agonist (GnRHa) are able to modify natural course of Central Precocious Puberty (CPP) in girls.Objective and hypotheses: We evaluated the etiology and the effect of GnRHa in Korean CPP boys.Method: Total 29 boys diagnosed for CPP from 2007 to 2012 were included in Ajou University Medical Center. Sellar MRI was performed in 26 of 29 patients (89.7%). CPP was diagnosed on the basis of i) onset evidence of testicular ...

Background: The incidence of type 1 diabetes mellitus (T1DM) in children and adolescents has increased worldwide. However, the epidemiology of T1DM among Korean children has not been reported since 2001.Objective and hypotheses: We therefore investigated the incidence of T1DM in Korean children and adolescents in 2012–2013 and compared it with data from 1995–2000.Method: Data were obtained from the National Health Insuran...

Background: Cholesterol levels are variable throughout childhood and adolescence. The attention not only to conventional lipid profiles but also to non-high-density lipoprotein cholesterol (non-HDL-C) and triglyceride to HDL-C ratio (TG/HDL-C ratio) are becoming more apparent in pediatric lipid studies because of their clinical importance.Objective and hypotheses: The aim of the present study was to establish age- and gender-specific reference values for...