hrp0084p2-388 | Fat | ESPE2015

Phthalate Exposure and Metabolic Parameters in Korean Girls

Kim Shin Hye , Pyo Heesoo , Park Mi-Jung

Background: Phthalates are synthetic chemicals produced in extremely large volumes for a wide variety of uses in personal care and consumer products, including building materials, food packaging, medical devices, toys and cosmetics. Though a few studies have shown that concentrations of phthalate metabolites are associated with obesity and insulin resistance in adults, studies in children are limited.Objectives: We studied to examine the associations of ...

hrp0084p3-851 | Fat | ESPE2015

Genotype and Clinical Characteristics in Korean Patients with Prader-Willi Syndrome: A Single Centre Study

Kim Yoo-Mi , Cheon Chong Kun , Kim Su Young

Background: Prader–Willi syndrome (PWS) is characterised by neonatal hypotonia, hypogonadism, progressive obesity, short stature, and mental retardation. This syndrome arises from a loss of expression of paternally derived genes on chromosome 15q11–13 region.Objective and hypotheses: The aim of this study was to investigate clinical characteristics and their genotypes in Korean patients with PWS.Method: The study included...

hrp0086p2-p520 | Fat Metabolism and Obesity P2 | ESPE2016

Preliminary Findings on Nutrition Care Competence in Health Care Professionals Using a Standardized Questionnaire NUTCOMP Korean Version

Kim Kieun , Kim Gyeong-Mi , Jeong Mi-Yong , Kim Yanghyeon , Lee Kyu-Rae , Kim Sun-Hyeon , Baik Seolhyang , Shin Hyejeong

Background: It is well known that obesity, diabetes or chronic disease are related with nutrition. However it has not been known whether health providers have concepts or competence about counseling of nutritional support in clinical practice basis. There is rare of information about differences among types of profession jobs.Objective and hypotheses: We investigated a survey with standardized questionnaire tool among different types of profession jobs d...

hrp0086p2-p165 | Bone & Mineral Metabolism P2 | ESPE2016

Bone Health and Metabolic Syndrome in Childhood Cancer Survivors

Young Yoon Ju , Shin Kyung-Sue , Jin Park Hyeon , Kiu Park Byung , Park Chan-Hoo , Mi Kwon Mi , Young Shim Hye , Hwa Baek Sun , Young Ju Hee , Mi Kim Young

Background: Metabolic syndrome and impaired bone health are common complications in childhood cancer survivors, and both are possibly related with decreased physical activities.Objective and hypotheses: We aimed to evaluate the prevalence rates of metabolic syndrome and osteopenia in adolescent/young adult childhood cancer survivors. We also aimed to investigate the relationship between physical activity and these complications.Met...

hrp0095fc2.1 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Derivation of local reference intervals for serum phosphate to improve diagnosis of Hypophosphataemic rickets

Thomas Maria , Anand Binu , Park Soo-Mi , Cheung Moira , Thankamony Ajay , Oddy Sue

Background: Hypophosphataemic rickets is a rare, and challenging condition to diagnose as the biochemical and radiological features are subtle compared with the more common calcipaenic rickets. Retrospective review of 4yr-old girl with PHEX mutation initially managed as Blount’s disease with surgery showed low (0.93 mmol/l), but within reference interval phosphate levels at initial presentation which caused some diagnostic uncertainty. Paediatric phospha...

hrp0092fc1.2 | Diabetes and Insulin Session 1 | ESPE2019

Three New Genes (PTPRD, SYT9, and WSF1) Related to Korean Maturity-Onset Diabetes in the Young (MODY) Children Decrease Insulin Synthesis and Secretion in Human Pancreatic Beta Cells

Jang Kyung-Mi , Moon Jung-Eun , Lee Su-Jung , Lee Ji-Min , Ko Cheol-Woo

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...

hrp0092p3-15 | Adrenals and HPA Axis | ESPE2019

Nephrotic Syndrome Developed in a Girl With Lipoid Adrenal Hyperplasia due to StAR Gene Mutation – First Report

Mi Jang Kyung , Hoon Park Yong , Yeong Chung Woo , Keum Changwon

Introduction: The incidence of idiopathic nephrotic syndrome (NS) is 1.5~16.9 per 100,000 children. The cause remains unknown but the pathogenesis of idiopathic NS is thought to involve immune dysregulation, systemic circulating factors, or inherited structural abnormalities of the podocyte. NS is characterized by the triad of proteinuria, hypoalbuminemia, and edema. There can be an antecedent infection, typically of the upper respiratory tract. Moreover,...

hrp0089fc15.5 | Growth and Syndromes | ESPE2018

Utility of BDNF and MMP-1 as Markers of Cardiometabolic Risk in Turner Syndrome Girls

Błaszczyk Ewa , Miłosz Lorek , Francuz Tomasz , Gieburowska Joanna , Gawlik Aneta

Background: It remains unclear whether cardiometabolic and vascular risks in Turner syndrome (TS) are the consequence of unidentified intrinsic factors or, conversely, the result of modifiable risk factors, such as overweight. New markers that could explain the pathogenesis of metabolic complications are under investigation.Objective: The comparison of the selected biochemical cardiometabolic risk markers between TS patients and healthy controls.<p c...

hrp0089p1-p057 | Diabetes &amp; Insulin P1 | ESPE2018

Three New Gene Variants (PTPRD, SYT9, and WFS1) Related to Korean MODY Children Decrease Insulin Secretion in Human Pancreatic Beta Cells

Jang Kyung-Mi , Moon Jung-Eun , Lee Su-Jeong , Lee Gi-Min , Ko Cheol-Woo

Background & objective: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by an early onset, autosomal dominant mode of inheritance and a primary defect in pancreatic β-cell function. MODY has been identified in Asian populations, however, there is a big discrepancy in the genetic locus between Asian and Caucasian patients with MODY. We previously reported that mutations in PTPRD, SYT9 and WFS1 have been identified in Ko...

hrp0089p2-p180 | Fat, Metabolism and Obesity P2 | ESPE2018

Relationships between Obesity Parameters and Urinary Concentrations of Phthalates and Phenols in Korean Girls

Kim Shin-Hye , Choi Man Ho , Hong Youngmin , Park Mi-Jung

Background: Humans are exposed to a variety of endocrine disruptors (EDs), including phthalates and phenol substitutes, in daily life. Previous studies have suggested the association between individual EDs and the risk of obesity, however, studies on the effects of multiple EDs have been extremely limited. We investigated the associations of urinary 12 phthalates, 3 polycyclic aromatic hydrocarbons, and 26 phenol substitutes with adiposity measures in Korean girls.<p class...