ESPE Abstracts

Purpose: We investigated the prevalence of subclinical hypothyroidism (SCH) and its risk factors in prepubertal children at age 6. We also evaluated the prevalence of thyroid nodule or cyst and its relationship with SCH in prepubertal children.Methods: From the Environment and Development of Children (EDC) cohort study, 458 prepubertal children (243 boys, mean 5.8 years) who visited at age 6 were included in this study. Serum concentrations of free thyro...

Objective: We try to investigate the polymorphisms and amino acid variants of HLA-A, -B, -C, -DRB1, -DQB1, -DPB1 molecules in early-onset AITD.Methods: The genotypes of HLA-A, B, C, DRB1, DQB1, and DPB1 on AITD were analyzed in 102 Korean children with AITDs (Graves’ disease (GD)=62, Hashimoto’s disease (HD)=40) and 142 healthy control using sequence-based typing. Analysis of variant amino acids was performed across the genotyping results with ...

Background: The Toll-like receptors are germline-encoded receptors that play an essential role in initiating the immune response against pathogens.Objective and hypotheses: We aimed to assess the association of TLRs polymorphism with autoimmune thyroid disease (AITD) in Korean children.Method: We define the polymorphism of TLR10, rs4129009, rs11096956, rs10004195 in 85 Korean AITD (GD=50, HD=35; M=16, F=69, mean age=12.9 3.1 years)...

Background: Increased arterial stiffness may precede cardiovascular complications in patients with type 1 diabetes (T1DM). As the autonomic nervous system is responsible for regulating heart rate and vascular tone, autonomic dysfunction may contribute to increased arterial stiffness in patients with T1DM.Objective and hypotheses: We investigated whether decreased heart rate variability (HRV) was associated arterial stiffness index (ASI) in patients with ...

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...

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...

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...

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...

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 ...

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...