ESPE Abstracts

Background: Achondroplasia is the most common condition characterized by disproportionate short stature. Patients with achondroplasia progressively fall below normal standards for length and height. GH has been widely used to treat short stature with or without GH deficiency (GHD).Objective and hypotheses: The purpose of the present study was to clarify the effectiveness of GH therapy on short stature in achondroplasia.Method: The ...

Background: The Toll-like receptors are germline-encoded receptors that play an essential role in initiating the immune response against pathogens.Objective and hypotheses: We aimed to assess the association of TLRs polymorphism with autoimmune thyroid disease (AITD) in Korean children.Method: We define the polymorphism of TLR10, rs4129009, rs11096956, rs10004195 in 85 Korean AITD (GD=50, HD=35; M=16, F=69, mean age=12.9 3.1 years)...

Objective: Acanthosis nigricans (AN) is characterized by velvety and papillomatous pigmented hyperkeratosis of the flexures and neck. Mutations in fibroblast growth factor receptor 3 (FGFR3) gene have been identified as one of the causes of skeletal dysplasia with AN. However, there have been few reports about familial AN with hypochondroplasia. Here we report a familial case with FGFR3 gene mutation.Case reports: A 16-y...

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 ± 2.7 years) from the Korea National Health and Nutrition Examination Survey (KNHANES) 2016-2017. T...

Maturity onset diabetes of the young (MODY) is a rare type of non-autoimmune diabetes mellitus which usually present in young adulthood. An estimated prevalence was 1.2% within the pediatric diabetic population. To date it has been proposed that pathogenic variants in at least 14 genes cause MODY. Among these genes, most cases result from mutations in HNF1A (MODY3), GCK (MODY2), HNF4A (MODY1) and HNF1B (MODY5). The patient is a 13-year-old, previously healthy, nonobese female ...

Background: Experimental models suggest that exposure to low dose nonylphenol could induce adiposity and promote adipocyte differentiation in mice. However, studies on the effect of nonylphenol exposure to human obesity have not been adequately studied.Objective: We investigated the associations of serum nonylphenol concentration with adiposity measures in Korean children and adolescents.Me...

Background: Congenital hyperinsulinism (CHI) is a disorder causing persistent hypoglycemia due to oversecretion of insulin. Diazoxide, a KATP channel opener in pancreatic beta cells is the treatment of choice, however, the glucose level should be monitored carefully. We report here a case of an infant girl with CHI who was complicated by diabetic ketoacidosis (DKA) during acute febrile illness.Case Report: A 1...

Purpose: Vitamin D deficiency is thought to be influenced by cardiovascular function and glucose homeostasis, however the potential influence of vitamin D status on insulin resistance, is not well understood. The aim is investigate the correlations between 25-hydroxyvitamin D[25(OH)D] with adiposity assessed by body mass index(BMI), fasting glucose and lipid levels on schoolchildren.Methods: From April 2015 to July 2018,...

Background: Currently, little information is available on current growth status according to birth weight at gestational age (BWGA) on Korean adolescents. Herein, the current height and weight of Korean adolescents who were born as small for gestational age (SGA) were compared to those of the non-SGA groups.Methods: Data from the population-based nationwide Korean survey 5th Korea National Health and Nutrition Examinatio...

Acnathosis nigricans (AN) is known to be common dermatologic manifestation in obese children and adolescents. The aim of this study is to examine the association of AN and insulin resistance in obese children and adolescents. One hundred seventy-nine obese subjects aged 6-17 years who participated in the intervention study, Childhood and Adolescents Obesity via Activity and Nutrition (ICAAN) study, were enrolled in 2017-2017. AN was diagnosed by physician. Anthropomet...