hrp0092rfc6.1 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

EFTUD2 Gene Deficiency Disturbs Maturation of Osteoblast and Inhibits Chondrocyte Differentiation via Activated p53 Signaling

Wu Jing , Yang Yi , He You , Li Qiang , Wang Xu , Sun Chengjun , Wang Lishun , An Yu , Luo Feihong

Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia and short stature. Loss of function mutations of EFTUD2 were previously reported in MFDM, however, the mechanism underlying EFTUD2-associated skeletal dysplasia remains unclear. Here, we identified a novel frameshift mutation of EFTUD2 in a MFDM Chinese patient...

hrp0092rfc7.4 | Diabetes and Insulin Session 2 | ESPE2019

Handgrip Strength Correlates with Insulin Resistance and the Metabolic Syndrome in Children and Adolescents: Analysis of the Korean National Health and Nutrition Examination Survey 2014-2016

Woon Jung Hae , Ah Lee Young , Yong Lee Seong , Ho Shin Choong , Won Yang Sei , Hyun Kim Jae

Introduction: Reduced muscle strength is associated with increased cardiometabolic morbidity and mortality. Handgrip strength (HGS) is an indicator of muscle strength and has been correlated with total muscle strength in children and adolescents. We aimed to evaluate the association between HGS and parameters of the metabolic syndrome and insulin resistance in children and adolescents.Methods: A total of 2,242 children a...

hrp0089p1-p090 | Diabetes & Insulin P1 | ESPE2018

Increasing Trend of Fasting Plasma Glucose Levels and Impaired Fasting Glucose in Non-Diabetic Korean Youth and Young Adults: A Nationally Representative Population-Based Study

Lee Jieun , Ah Lee Young , Hyun Kim Jae , Yong Lee Seong , Ho Shin Choong , Won Yang Sei

Objectives: Diabetes in children and young adults is increasing worldwide. However, the study of change in fasting glucose among general pediatric and young adult population was lacking. The aim of this study was to investigate the secular trend of fasting plasma glucose (FPG) levels in non-diabetic Korean youth and young adults and to evaluate the change in the proportion of impaired fasting glucose (IFG).Methods: Study subjects were Korean youth aged 1...

hrp0089p1-p123 | Fat, Metabolism and Obesity P1 | ESPE2018

Interleukin-6 Levels are Associated with High Blood Pressure and Low HDL Cholesterol in Healthy 4-year-old Children

Jung Haewoon , Ah Lee Young , Lee Hye Jin , Lim Youn-Hee , Hong Yun-Chul , Shin Choong Ho , Yang Sei Won

Background: Interleukin-6 (IL-6) is a proinflammatory cytokine associated with obesity, insulin resistance, hypertension, and atherosclerosis in adulthood. Few studies have been conducted in healthy young children. We aimed to investigate whether IL-6 levels are associated with cardiometabolic risk factors in healthy 4-year-old children.Methods: From a prospective cohort study named Environment and Development of Children (EDC) cohort, a total of 421 sin...

hrp0089p3-p272 | Multisystem Endocrine Disorders P3 | ESPE2018

Two Cases of Costello Syndrome and Literatures Review

Zhuan-Nan Jiang , Le-le Hou , Zu-lin Liu , Hui Ou , Zhe Meng , Li-na Zhang , Li-yang Liang

Objective: To investigate the clinical features and genetic characteristics of HRAS-associated Costello Syndrome.Method: Characteristics of clinical data and gene mutation of two cases Costello Syndrome in XX hospital were retrospectively analyzed. The related literature was searched by using search terms ‘HRAS’ or ‘Costello Syndrome’.Result: Both patients were presented with mental retardation, growth retardati...

hrp0089p1-p243 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Circulating Makorin Ring Finger Protein 3 Levels Predict Central Precocious Puberty in Girls

Jeong Hwal Rim , Lee Hye Jin , Shim Yeong Suk , Kang Min Jae , Yang Seung , Hwang Il Tae

Background/aim: Puberty is a mysterious process about which much is as yet unknown. MKRN3 is involved in regulating the initiation of puberty by inhibiting gonadotropin releasing hormone (GnRH) secretion. This study evaluated the serum level of MKRN3 and investigated its diagnostic usefulness in girls with central precocious puberty (CPP). Changes in the MKRN3 concentration during GnRH agonist (GnRHa) treatment were also analyzed.Methods: In total, 41 gi...

hrp0089lb-p19 | Late Breaking P1 | ESPE2018

Characterization and Clinical Course of Prolactinoma in Korean Adolescents

Yang Aram , Im Minji , Song Ari , Kim Jinsup , Shin Hyung-Jin , Park Hwan-Hee , Cho Sung Yoon , Jin Dong-Kyu

Prolactinoma is most common functioning pituitary adenoma(50%). However, there have been limited studies for prolactinoma in adolescents. Pituitary adenomas are uncommon in childhood and adolescence (<3% of childhood supratentorial tumors, 3–6% of all surgically treated adenomas). The aim of this study is to assess the characteristics of Korean adolescents with prolactinoma and their clinical course. This study is retrospective cohort study. Patients diagnosed with pr...

hrp0086p2-p426 | Gonads &amp; DSD P2 | ESPE2016

Comparison between Serum Vitamin D Levels in Precocious Pubertal Girls and Normal Girls

Woo Baek Joon , Suk Shim Young , Jeong Oh Yeon , Jae Kang Min , Yang Seung , Hwang Il Tae

Background: Vitamin D deficiency has been associated with chronic diseases, such as diabetes mellitus, obesity and autoimmune disease. However, There are only a few studies about the correlation between Vitamin D levels and precocious puberty in girls.Objective and hypotheses: In the previous study, vitamin D levels may be associated with precocious puberty. We also aimed to re-evaluate the relationship between serum 25-hydroxyvitamin D (25(OH)D) and pre...

hrp0086p1-p484 | Fat Metabolism and Obesity P1 | ESPE2016

Fetuin-A as an Alternative Marker for Insulin Resistance and Cardiovascular Risk in Prepubertal Children

Joung Oh Yeon , Hee Yi Kyung , Jae Kang Min , Woo Baek Joon , Yang Seung , Tae Hwang Il

Background: Fetuin-A plays a role in insulin resistance and cardiovascular disease.Objective and hypotheses: The aim of present study was to determine the relation between fetuin-A levels and caridiometabolic risk factors and to investigate effect of serum fetuin-A to insulin sensitivity indices for determining whether fetuin-A is additional marker of insulin resistance in prepubertal children.Method: Ninety-nine prepubertal Korean...

hrp0086p2-p659 | Growth P2 | ESPE2016

Influences of GHR-Exon 3 and -202 A/C IGFBP3 Polymorphisms on 1 Year Follow-Up Outcome of Growth Hormone Treatment in Korean Children with Growth Hormone Deficiency

Baek Joon Woo , Oh Yeon Joung , Kang Min Jae , Shim Young Suk , Hwang Il Tae , Yang Seung

Background: The GHR-exon3 and the -202 A/C IGFBP3 polymorphisms have been suggested to affect responses to recombinant human GH (rhGH) therapy in some individuals with short stature. This study aimed to assess the influences of the two polymorphisms on treatment outcomes in patients with GH deficiency (GHD).Method: In 72 (32 girls and 40 boys) children with confirmed diagnosis of GHD, genotyping and serial measurements of auxological and endocrinological...