hrp0084p1-139 | Turner & Puberty | ESPE2015

A Study of Arterial Stiffness in Turner Syndrome Patients Using Cardio-Ankle Vascular Index

Jung Hae Woon , Kim Hwa Young , Lee Gyung Min , Kim So Youn , Jeong Kyung A , Choi Keun Hee , Lee Jieun , Lee Young Ah , Shin Choong Ho , Yang Sei Won

Background: A large proportion of the increased mortality in Turner syndrome (TS) is related to cardiovascular complications. Increased arterial stiffness may be an important predictor related to cardiovascular complications. A novel method of evaluating arterial stiffness, relatively independent of changes in blood pressure (BP), is the cardio-ankle vascular index (CAVI).Objective and hypotheses: The aim of this study was to compare arterial stiffness u...

hrp0084p2-322 | DSD | ESPE2015

Clinical Spectrum of 45,X/46,XY Mosaicism and Variants in Children

Jung Hae Woon , Kim Hwa Young , Lee Gyung Min , Kim So Youn , Jeong Kyung A , Choi Keun Hee , Lee Jieun , Lee Young Ah , Shin Choong Ho , Yang Sei Won

Background: The phenotypic manifestations in the 45,X/46,XY karyotype is diverse and there are challenges in management due to this diversity.Objective and hypotheses: The aim of this study was to describe the clinical spectrum of 45,X/46,XY mosaicism and variants diagnosed in childhood.Method: A retrospective review of 20 patients with 45,X/46,XY (n=7) and its variants ((45,X/46,X,der(Y) (n=12)) and 46,X,der(X),t...

hrp0084p2-331 | Fat | ESPE2015

Autonomic Nervous System Function Assessed by Heart Rate Variability in Children and Adolescents with Long Term Follow up of Craniopharyngioma

Jung Hae Woon , Kim Hwa Young , Lee Gyung Min , Kim So Youn , Jeong Kyung A , Choi Keun Hee , Lee Jieun , Lee Young Ah , Shin Choong Ho , Yang Sei Won

Background: Obesity is a well-recognized complication of craniopharyngioma. Increased hypothalamic involvement (HI) by the tumour and accordant treatment has been associated with greater obesity. Changes in hypothalamic control of the autonomic nervous system (ANS) have been implicated in the development of hypothalamic obesity however, long term changes in the ANS have not been assessed.Objective and hypotheses: We aimed to evaluate ANS activity using h...

hrp0084p2-513 | Pituitary | ESPE2015

A Novel Mutation within the AVP Gene in an 18-Year-Old Male Patient with Kallmann Syndrome and Combined Pituitary Hormone Deficiency

Choi Won Bok , Kim Soo Young , Yoon Lira , Kim Young Mi , Cho Min-Jung , Ki Chang-Seok , Cho Sung Yoon , Jin Dong-Kyu , Kwak Min Jung

Background: Kallmann syndrome is the most common form of hypogonadotropic hypogonadism and is associated with genes such as KAL1, KAL2, CHD7, NELF, PROK2, and PROKR2. Genetic factors in hypopituitarism are involved with the gene mutation of PROP1, POU1F1, HESX1, LHX3, LHX4, and PTX2. We found a novel mutation of the AVP gene in a Kallmann syndrome patient with hypopituitarism.Case presentation: The pa...

hrp0084p3-689 | Diabetes | ESPE2015

Incretin Secretion was not Impaired in Obese Korean Children and Adolescents with Type 2 Diabetes

Park So Hyun , Kim Jae Hong , Jung Min Ho , Kim Sin Hee , Cho Gyung Sun , Ahn Moon Bae , Cho Won Gyung , Jung In A , Jeon Yeon Jin , Suh Byung Kyu

Objective: The role of incretins in type 2 diabetes (T2D) is controversial. This study investigated the association between incretin levels in obese Korean children and adolescents with T2D.Patients and methods: We performed a 2-h oral glucose tolerance test in obese children and adolescents with T2D and with normal glucose tolerance. Twelve obese children and adolescents with newly diagnosed T2D (DM group) and 12 obese age-matched subjects without T2D (...

hrp0084p3-1031 | Growth | ESPE2015

Final Height in Survivors of Childhood Acute Leukaemia

Jung In Ah , Jeon Yeon Jin , Kim Shin Hee , Cho Won Kyoung , Park So Hyun , Cho Kyoung Soon , Jung Min Ho , Suh Byung Kyu , Kim Hyo Jin

Background: Long-term survivors of childhood acute leukaemia can suffer from growth impairment. The purpose of this study was to evaluate longitudinal growth and final height of paediatric patients who were treated with acute leukaemia and factors that can cause growth impairment.Methods: Of 234 patients (133 males and 101 females) who were diagnosed as acute lymphoblastic leukaemia (ALL; n=162) or acute myeloblastic leukaemia (AML; n=7...

hrp0084p3-1086 | Perinatal | ESPE2015

Usefulness of ultrasonography for detecting adrenal haemorrhage in neonates with relative adrenal insufficiency

Jeong Kyung A , Kim Hwa Young , Jung Hae Woon , Kim So Youn , Choi Keun Hee , Lee Gyung Min , Lee Young Ah , Shin Choong Ho , Yang Sei Won

Background: Relative adrenal insufficiency (RAI) may be associated with neonatal adrenal hemorrhage (AH).Objective and hypotheses: The purpose of this study was to investigate the usefulness of ultrasonography for detecting AH in steroid treated neonates with RAI.Method: A retrospective analysis of 52 corticosteroid-treated patients with RAI at a neonatal intensive care unit of a tertiary center from January 2006 to April 2014 was ...

hrp0084p3-1212 | Thyroid | ESPE2015

Goitre in Childhood and Adolescence; Clinical Course and Associated Factors for Thyroid Autoimmunity or Isolated Nonautoimmune Hyperthyrotropinemia

Kim So Youn , Jung Hae Woon , Jeong Kyung A , Choi Keun Hee , Lee Gyung Min , Kim Hwa Young , Lee Young Ah , Shin Choong Ho , Yang Sei Won

Background: Simple goitre (SG) and autoimmune thyroid disease (AITD) are the two most common causes of goiter in children.Objective and hypotheses: The prevalence of thyroid dysfunction, AITD, and SG at the time of goiter diagnosis was investigated. The natural course of SG was studied and factors related to the development of AITD and/or thyroid dysfunction were analysed.Method: A retrospective review of 1,225 patients (1071 femal...

hrp0094p1-136 | Growth Hormone and IGFs A | ESPE2021

Comparison of actual GH dose with labeled dose in children with short stature based on the LG Growth Study

Lee Hae Sang , Chung Sochung , Rhie Young-Jun , Kim Jae Hyun , Chae Hyun-Wook , Choi Jin Ho , Lee Young Ah , Kim Yoo-Mi , Hwang Il Tae ,

Objectives: This study aimed to analyze dosing patterns of recombinant human growth hormone (rhGH) (Eutropin® Inj\., Eutropin®Pen Inj., and Eutropin®AQ Inj. for daily injection, and Eutropin®Plus Inj. for weekly injection, LG Chem, Ltd.) using the collected data of the LG Growth Study (LGS) in Korean pediatric patients with growth disorders including growth hormone deficiency (GHD), idiopathic sho...

hrp0095p1-257 | Diabetes and Insulin | ESPE2022

A novel mutation in INS gene in an infant with neonatal diabetes mellitus: A case report and functional study

Suh Junghwan , Jin Kim Su , In Lee Hae , Lee Myeongseob , Song Kyungchul , Saem Choi Han , Kwon Ahreum , Wook Chae Hyun , Kim Ho-Seong

Neonatal diabetes mellitus (NDM) is a hyperglycemic status usually diagnosed before first 6 months of life, which is caused by monogenic mutations. INS gene mutation is the second most common cause of permanent NDM, causing misfolding of proinsulin and accumulation in the endoplasmic reticulum, leading to apoptosis of the pancreatic beta cells. We report a case of NDM in a 2-month-old girl with a novel heterozygous mutation of the INS gene, and functional studies to confirm th...