hrp0095p2-58 | Diabetes and Insulin | ESPE2022

Real-world use of continuous glucose monitoring and its effect on glycemic control among Korean children, adolescents, and young adults with type 1 diabetes

Lee Dahye , Choe Yunsoo , Jeong Lee Yun , Ho Shin Choong , Ah Lee Young

Background: The Korean National Health Insurance Service has started reimbursing the cost of continuous glucose monitoring (CGM) in type 1 diabetes (T1D) in 2019. We investigated the effect of CGM use on glycemic control among Korean children, adolescents, and young adults with T1D in a real-world setting.Method: We retrospectively reviewed the medical records of childhood-onset T1D patients aged < 30 years (n</em...

hrp0095p2-275 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A female with 46,XX gonadal dysgenesis presenting with hypergonadotropic hypogonadism and normal height

Ju Choi Young , Jeong Jang Min , Young Cho In , Ho Jung Min , Suh Byung-Kyu

Introduction: Genes on the X chromosome (BMP15, FMR1) and autosomal chromosomes (FOXL2, RSPO1, WNT4) are known to influence ovarian development. 46,XX gonadal dysgenesis is a rare disease caused by chromosomal abnormalities, genetic mutations, and postnatal ovarian damage, leading to premature ovarian failure.Case Report: A 16-year-old female presented with primary amenorrhea and poor breast development. She was born at ...

hrp0092p2-166 | GH and IGFs | ESPE2019

Prediction of the First-Year Response to Growth Hormone Treatment in Prepubertal Korean Children with Idiopathic Growth Hormone Deficiency: Analysis of Data from the LG Growth Study Database

Cho Wonkyoung , Ahn Moon-Bae , Cho Kyoung Soon , Jung Min Ho , Suh Byung-Kyu

Background: Insufficient data exist for the prediction of the first-year response to growth hormone (GH) treatment in Korean prepubertal children with idiopathic GH deficiency (GHD).Methods: Data from children (n = 345) who were in the LG Growth Study Database or had participated in other relevant clinical trials were used to develop a model. All included patients had been diagnosed with idiopathic GHD with maximum G...

hrp0089p3-p394 | Thyroid P3 | ESPE2018

A Case of Steroid-Responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) in a Girl with Newly Diagnosed Hashimoto Thyroiditis

Lim Yijuan Yvonne , Sng Anjian Andrew , Ho Cindy Wei-li , Lee Yung-Seng , Loke Kah-Yin

Background: SREAT is a rare entity in children, with about 60 cases described to date. It is characterised by acute encephalopathy, elevated anti-thyroid antibodies and exclusion of other causes of encephalopathy like infection, tumour, toxic or metabolic diseases. Typical presentations in children include behaviour changes, psychosis and seizures. The role of anti-thyroid antibodies in the pathogenesis is not clearly understood, and the titre level does not predict severity o...

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....

hrp0084p2-545 | Puberty | ESPE2015

Change of Growth Pattern and Bone Mineral Density in Ovariectomised Female Rats According to Oestrogen Dosage

Kang Byung Ho , Park Mun Suk , Yang You Jung , Lim Sung Jig , Shim Kye Shik

Objective and hypotheses: The purpose was to get the basic data of optimum serum concentration of oestrogen in pubertal growth spurt, minimising the decrease of bone mineral density or acceleration of epiphyseal closure of long bones.Method: i). Fifteen female S.D. rats (4-week aged) were ovariectomised to inhibit their endogenous oestrogen effect and randomly divided into three groups. After 1 week, the group 1 were injected subcutaneousl...

hrp0095p1-598 | Thyroid | ESPE2022

Retrospective analysis and literature review of five cases of thyroid hormone resistance syndrome caused by THRB gene mutation

Zhang Lidan , Zhang Caiping , Chen Xiaoyan , Ye Lei , Lu Wenli , Dong Zhiya , Wang Wei , Ma Xiaoyu , Xiao Yuan

Objective: To summarize the clinical characteristics, genetics and follow-up data of five children with thyroid hormone resistance syndrome (RTH) and review the related literatures.Methods: The clinical data of the five children diagnosed with RTH in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood col...

hrp0092p2-81 | Diabetes and Insulin | ESPE2019

A de novo Pathogenic Heterozygous Mutation of the Insulin Receptor gene in a Patient with type A Insulin Resistance Syndrome

Sun Manqing , Wang Wei , Lu Wenli , Zhang Lidan , Dong Zhiya , Xiao Yuan , Ma Xiaoyu , Ni Jihong , Wang Defen

Background: Defects of the insulin receptor gene (INSR) can cause genetic syndromes associated with a wide diverse range of congenital insulin resistance from milder insulin-resistant diabetes mellitus (Type A insulin resistance syndrome, TAIRS) to leprechaunism (Donahue syndrome). Clinical features in TAIRS vary due to the severity of damage in INSR, precise diagnosis is challenging.Materials and Methods</stron...

hrp0089fc2.4 | Bone, Growth Plate &amp; Mineral Metabolism 1 | ESPE2018

Diagnostic Performance of Artificial Neural Network-based TW3 Skeletal Maturity Assessment

Zhou Xuelian , Fu Junfen , Dong Guanping , Wu Wei , Huang Ke , Ni Yan , LIN Qiang , Liu Lanxuan , Ni Hao , Lai Can

Purpose: To evaluate the efficacy of supervised Artificial Neural Network (sANN) in bone age assessment and compare the diagnostic performance of sANN-based TW3 skeletal maturity assessment on hand radiographs with that of experienced child endocrinologists.Materials and methods: This study developed an optimized artificial intelligence TW3 bone age assessment system by using the sANN and rating for the 20 hand bones (13RUS+7carpal) from A to I. 8332 of ...

hrp0082p1-d3-227 | Reproduction (2) | ESPE2014

Impact of BMI on GnRH Stimulated LH Provocation Peak in Girls with Central Precocious Puberty

Fu Jun-Fen , Jin Ju-Hua , Prasad Heranmaye C , Zhou Xue-Lian , Dong Guan-Ping , Jiang You-Jun

Background: Excess adiposity may influence various aspects of pubertal development, including the timing of pubertal initiation and hormonal parameters during puberty.Objective and hypotheses: The aim of this study was to clarify the impact of BMI on LH secretion in response to GnRH stimulation test in girls diagnosed with central precocious puberty.Method: Girls with central precocious puberty, who underwent GnRH-stimulation test ...