ESPE Abstracts

Introduction: Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous group of monogenic endocrine disorders which is inherited as autosomal dominant pattern and characterized pancreatic β-cell dysfunction. It has been estimated to represent around 1% to 6% of all diabetes. The hallmark of MODY is that the onset is before 25 years of age and inherited in an autosomal dominant manner. Generally, there are several known genes that cause M...

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...

Sleep deficit is the well known risk factor for obesity in children and adult. Adenotonsillar hypertrophy is the main cause of obstructive sleep apnea(OSA) in childhood. Adult type (type II ) OSA is increasing in obese children. Eleven year old boy visited our clinic with chief complain of polyuria, polydipsia onset two weeks ago. His grandmother and father are type 2 diabetes mellitus. Adenotonsillectomy was recommended for tonsillar hyperthrophy (Grade 3) and had snoring for...

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...

Background: Diabetic ketoacidosis (DKA) is the leading cause of morbidity and mortality in children with type 1 diabetes (T1DM). Although dehydration and electrolyte imbalance can be present in patients with DKA and T1DM, gastrointestinal tract complication remains unusual, especially in children. We report a child case of newly onset T1DM who developed acute ischemic intestinal necrosis with severe DKA combined with hypernatremic hyperosmolarity.Case re...

Purpose: Since the COVID-19 outbreak, the number of obese children and adolescents has increased rapidly. Obesity acts as a gateway to chronic adult diseases, so proper management during childhood and adolescence is essential. We aimed to identify the interannual changes in the prevalence of obesity, diabetes mellitus, dyslipidemia, and hypertension, and to investigate factors contributing to these changes before and during the COVID-19 pandemic.<p class="...

Background: Skeletal dysplasias (SD) are a heterogeneous group of heritable conditions with generalized bone and cartilage impairment caused by pathogenic variants in genes primarily affecting skeletogenesis and/or bone homeostasis. In this study, we conducted a next-generation sequencing (NGS) in patients with a suspected SD to reveal the underlying etiologies of skeletal dysplasia.Methods: Thirty-four pediatric patient...

Background: Fibrochondrogenesis 1 (FBCG1) is known as an autosomal recessive syndrome, which is related to short-limbed skeletal dysplasia. The disease is clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Mutations in the gene encoding the α1 chain of type XI collagen (COL11A1) are s...

Objectives: Prader–Willi syndrome (PWS) is the most common genetic obesity disorder and results from lack of gene expression on paternally inherited chromosome 15q11.2-q13. We aim ed to delineate endocrinopathy in PWS patients during long-term follow up.Methods: A total of 71 patients with PWS were enrolled retrospectively from July 2009 to March 2020. Diagnoses were based on the clinical and genetic testing.<p...

Background: MODY includes a very heterogenous group of monogenic diabetes mellitus characterized by beta-islet cell dysfuction. We previously reported 3 new gene mutations of PTPRD, SYT9 and WFS1 in Korean MODY children (Horm Res Paediatr,2015). We investigated whether the PTPRD, SYT9 and WFS1 mutation overexpression vectors affect insulin synthesis and secretion in human pancreatic beta cells.Materials & Methods: We...