hrp0089p3-p380 | Thyroid P3 | ESPE2018

A Case of Permanent Congenital Hypothyroidism with Compound Heterozygous Mutations in the DUOX2 Gene

Hwang Jeongju , Jang Ja-Hyun , Yu Jeesuk

Introduction: Congenital hypothyroidism is defined as thyroid hormone deficiency present at birth. It is the most common congenital endocrine disorder. Neonatal screening test for hypothyroidism can allow its early detection. The course of disease can be permanent or transient. Some permanent congenital hypothyroidism has been linked to defects in proteins involved in the synthesis of thyroid hormones. One of the critical steps in the synthesis of thyroid hormone is the genera...

hrp0086p2-p785 | Pituitary and Neuroendocrinology P2 | ESPE2016

Hyperleptinemia in Obese and Non-Obese Children with Early Puberty

Jang Kyung-Mi , Moon Jung-Eun , Ko Cheol-Woo

Background: Leptin is mainly produced by adipocytes. In animal and human, it is a potnet anorectic and increases in obesity. Some reported that precocious puberty is prevelent in children with obesity.Objective and hypotheses: This study was done to see the changes of blood leptin levels in both obese and non-obese children with early puberty or precocious puberty.Method: Study patients consist of 325 children with early puberty or...

hrp0084p3-1165 | Puberty | ESPE2015

One Year Follow-Up of Asymptomatic Precocious Puberty; Clinical and Laboratory Characteristics

Jang Kyung-Mi , Cho Eun-Mi , Ko Cheol-Woo

Background: Children with bone-age advancement without any pubertal sign (asymptomatic precocious puberty, asmyptomatic PP) were reported (CW Ko,et al, at the Annual Meeting of ESPE, 2012 and 2013).Objective and hypotheses: In our follow-up study, some more children with asmyptomatic PP were enrolled additionally. We analysed their clinical and laboratory characteristics at the time of diagnosis, and they were followed-up prospectively t...

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,...

hrp0089p1-p057 | Diabetes & 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...

hrp0086p1-p258 | Diabetes P1 | ESPE2016

Possible Monogenic Diabetes Mellitus Including Mody is Highly Prevalent in Korean Children with Diabetes Mellitus

Moon Jung-Eun , Cho Eun-Mi , Jang Kyung-Mi , Ko Cheol-Woo

Background: As the human genome is further explored, multiple genetic anomalies at different loci are being found that confer varying degrees of predisposition to diabetes. MODY is the most common form of monogenic diabetes, accounting 2–5 percent of diabetes. Recently, we have found and reported three noble gene variants relating to MODY in Korean children (Shim et al, Horm Res Pediatr, 2015).Objective and hypotheses: This study was done to see the...

hrp0086fc7.5 | Gonads & DSD | ESPE2016

Targeted Exome Sequencing for Genetic Diagnosis of Patients with Disorders of Sex Development

Kim Ja Hye , Kang Eungu , Kim Gu-Hwan , Jang Ja-Hyun , Cho Eun-Hae , Lee Beom Hee , Yoo Han-Wook , Choi Jin-Ho

Patients with Disorders of sex development (DSD) can present with a large phenotypic spectrum and caused by a number of different genetic defects. Therefore, it is difficult to reach a specific diagnosis using traditional approaches including biochemical analysis and single gene sequencing in a number of patients with DSD. Recently, next-generation sequencing technologies have revolutionized the identification of causative genes with diseases with genetic heterogeneity using m...

hrp0086rfc8.4 | Growth: Clinical | ESPE2016

A Hybrid Fc-fused Human Growth Hormone, GX-H9, Shows a Potential for Weekly and Semi-monthly Administration in Clinical Studies

Lee EunJig , Schopohl Jochen , Mykola Aryaev , Kim Tae Kyung , Ahn Young-Joo , Woo Jung-Won , Jang Woo Ick , Sung Young-Chul , Keyoung H. Michael

Background, Objective and hypotheses: GX-H9 is a hybrid Fc-based long-acting recombinant human growth hormone (hGH). The safety, tolerability, and PK/PD of single ascending dose in healthy volunteers were assessed to determine GX-H9 doses capable of normalizing IGF-1 level. The PK/PD, safety, efficacy and tolerability of multiple sequential doses of GX-H9 in adult growth hormone deficiency (AGHD) were compared to that of a daily recombinant hGH in AGHD. A Phase 2 study in pedi...

hrp0086p1-p894 | Thyroid P1 | ESPE2016

Comprehensive Analysis of Seven Toll-Like Receptor Genes Including 15 Single-Nucleotide Polymorphisms with Autoimmune Thyroid Disease in Korean Children

Cho Won Kyoung , Jang Jung-Pil , Ahn Moon Bae , Jung Min Ho , Kim Tai-Gyu , Suh Byung-Kyu , Kim Shin Hee , Cho Kyoung Soon , Park So Hyun

Background: The Toll-like receptors (TLRs) are germline-encoded receptors that play an essential role in initiating the immune response against pathogens.Objective and hypotheses: In this study, we assess the association of TLR polymorphism with autoimmune thyroid disease (AITD) in Korean children.Method: Seven Toll-like receptor genes (TLR-1, -2, -3, -4, -5, -6, -9) including 15 single-nucleotide polymor...