hrp0092p2-122 | Fat, Metabolism and Obesity | ESPE2019

Insulin-like Growth Factor-1 and Binding Protein-3 in Children with Metabolic Syndrome

Lee yoonji , Ahn Moonbae , Kim Seulki , Choi yujung , Cho Wonkyung , Jung Minho , Suh Byung-Kyu

Purpose: To examine the association of Insulin-like growth factor-1 (IGF-1) and binding protein-3 (IGFBP-3) with metabolic parameters of childhood obesity and assess its relationship with the presence of metabolic syndrome (MetS)Methods: A cross-sectional study of total 307 children and adolescents referred for growth assessment was performed. Subjects were divided into three groups based on body mass index (BMI) percent...

hrp0092p3-13 | Adrenals and HPA Axis | ESPE2019

Genotype and Phenotype, Growth Outcome in 33 Korean Patients with 21-Hydroxylase Deficiency

Yoon Ju Young , Choi Im Jeong , Kim Hyun-Ji , Cheon Chong Kun

Purpose: This study aimed to describe gene mutations and growth outcome in patients with 21-hydroxylase deficiencyMethods: Subjects were diagnosed as 21-hydroxylase deficiency by direct Sanger sequencing or multiple ligation-dependent probe amplification analysis and visited Pusan National University Children's Hospital from July 2008 to April 2019.We investigated the genotype, phenotype and growth profiles.<p cl...

hrp0092p3-179 | Multisystem Endocrine Disorders | ESPE2019

Clinical and Molecular Characteristics of Pediatric Patients with Multiple Endocrine Neoplasia (MEN)

Lee Yena , Oh Arum , Kim Gu-Hwan , Yoo Han-Wook , Choi Jin-Ho

Purpose: Multiple endocrine neoplasia (MEN) is a rare, autosomal dominantly inherited cancer syndrome caused by a mutation in MEN1 or RET gene. Identification of the genetic causes of the MEN is critical because genotype provides information on timing of prophylactic surgery in patients with MEN type 2 who have clinically silent tumors. Therefore, this study investigated clinical phenotype and molecular characteristics of children with MEN in...

hrp0089p2-p070 | Diabetes &amp; Insulin P2 | ESPE2018

Frequency and Etiologic Spectrum of Monogenic Diabetes in Pediatric Diabetes in a Single Academic Center

Choi Jin-Ho , Seo Go Hun , Oh Arum , Kim Gu-Hwan , Yoo Han-Wook

Purpose: Type 1 diabetes mellitus (DM) is the most common cause of diabetes in children and adolescents. Prevalence of monogenic DM is estimated for about 1%–5% of all patients with DM. Overlapping clinical features of various forms of diabetes make differential diagnosis challenging. This study was performed to investigate frequency and genetic etiologies of monogenic diabetes in a single academic center.Methods: This study included 466 consecutive...

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...

hrp0089p1-p246 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Clinical Phenotypes and Mutation Spectrum of Patients with Isolated Gonadotropin-Releasing Hormone Deficiency in a Single Academic Center

Yoo Han-Wook , Seo Go Hun , Oh Arum , Kim Gu-Hwan , Choi Jin-Ho

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is caused by a deficiency in GnRH production, secretion or action. IGD is a highly heterogeneous disorder with wide phenotypic spectrum including Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). More than 30 different causative genes have been identified in several studies. However, there are no data on the prevalence, clinical characteristics, and mole...

hrp0086p2-p680 | Growth P2 | ESPE2016

A Case of Growth Hormone Deficiency with Combined Encephalocraniocutaneous Lipomatosis and Jaffe–Campanacci Syndrome

Choi Eun Mi , Shim Ye Jee , Kim Jun Sik , Kim Heung Sik

Introduction: Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by unilateral lipomatosis and ipsilateral neurologic/ophthalmic malformation. Jaffe–Campanacci syndrome (JCS) is characterized by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw. Both of ECCL and JCS was associated neurofibromatatosis type 1. We had a case of GH deficiency with combined ECCL and ...

hrp0086p2-p710 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Endocrine Dysfunction in Children and Adolescents with CHARGE Syndrome

Choi Jin-Ho , Kang Eungu , Kim Yoon-Myung , Kim Gu-Hwan , Yoo Han-Wook

Background: CHARGE syndrome is a complex of congenital malformations affecting multiple organ systems caused by mutations in CHD7.Objective and hypotheses: This study was performed to evaluate endocrine dysfunctions including hypogonadotropic hypogonadism, growth hormone deficiency, or hypothyroidism in patients with CHARGE syndrome.Method: Eighteen patients (10 males and 8 females) with CHARGE syndrome were included. A di...

hrp0082p1-d2-71 | Diabetes (1) | ESPE2014

Identification of Novel Candidate Gene Variants for Mody by Whole Exome Sequencing in Korean Mody Families

Cho Un Mi , Shim Yae Ji , Choi Byung Ho , Ko Cheol Woo

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....

hrp0082p1-d2-219 | Reproduction (1) | ESPE2014

Mutation Analysis of the KISS1, KISS1R, LIN28A, LIN28B, TAC3, and TACR3 Genes in Girls with Central Precocious Puberty

Kim Yoo-Mi , Hye Kim Ja , Hyang Cho Ja , Choi Jin-Ho , Yoo Han-Wook

Background: Central precocious puberty (CPP) is mostly idiopathic, however, familial cases of CPP and evidence of genetic factors on pubertal timing by genome-wide association studies suggested genetic causes of CPP.Objective and hypotheses: Molecular defects in six genes (KISS1, KISS1R, LIN28A, LIN28B, TAC3, and TACR3) have been known to cause early activation of the hypothalamic-pituitary–gonad...