hrp0097rfc3.5 | Fat, metabolism and obesity 1 | ESPE2023

Multi-omics Reveals molecule target Underlying Adolescent obesity with metabolic syndrome

Yang Yu , Huang Hui , Yang Li , Xie Liling , Zhang Dongguang , Xu Lei , Chen Ka , Shuai Xia , Xiong Xiangyu

Objective: The onset of obesity complicated with metabolic syndrome in children and adolescents is hidden, the mechanism is unknown, and early warning indicators are lacking clinically. This study conducted multi-omics research on children and adolescents with simple obesity and obesity complicated with metabolic syndrome to provide early clinical diagnosis and drug treatment targets for its occurrence and development mechanism.M...

hrp0097p1-334 | Multisystem Endocrine Disorders | ESPE2023

Gut microbiota, a potential cause of higher insulin sensitivity in children with Prader-Willi syndrome

Zhong Mian-Ling , Cai Yu-Qing , Tang Yan-Fei , Dai Yang-Li , Jiang Yong-Hui , Ni Yan , Zou Chao-Chun

Keywords: Prader-Willi syndrome; Gut microbiota; Insulin sensitivity; Metagenomics sequencing; Obesity.Aim: Obesity is the main driving factor for comorbidities in Prader-Willi syndrome (PWS) patients due to overeating behaviors. The gut microbiota has been implicated in the aetiology of obesity and associated comorbidities. The purpose of the present study is to characterize the fecal microbiota in Chinese patients with...

hrp0098p2-98 | Fat, Metabolism and Obesity | ESPE2024

The role of Glucagon-Like Peptide 1 Receptor Agonists for Weight Control in Individuals with Acquired Hypothalamic Obesity- A Systematic Review

Beng Hui Ng Nicholas , Wen Wei Ng Victoria , Gerard Gheslynn , Jin Kai Koh Jonathan , Yin Loke Kah , Seng Lee Yung

Objective: Hypothalamic obesity does not respond well to conventional interventions for obesity. Glucagon-Like Peptide 1 (GLP-1) receptor agonists have mechanisms independent of the hypothalamus which may be potentially beneficial for managing hypothalamic obesity. This systematic review summarizes the efficacy and safety of GLP-1 receptor agonists use in hypothalamic obesity.Design: A PRISMA-compliant systematic review ...

hrp0095rfc5.5 | Adrenals and HPA Axis | ESPE2022

Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing syndrome and acral cutaneous mucinosis

M McGlacken-Byrne Sinead , Abdelmaksoud Ashraf , Haini Mohammad , Palm Liina , Ashworth Michael , Li Juan , Wang Wei , Wang Xiumin , Wang Jian , Callaghan Bridget , A Kinsler Veronica , Faravelli Francesca , T Dattani Mehul

Introduction: Genetic alterations within the cAMP/PKA pathway, including the genes GNAS, PDE11A, PDE8, PRKAR1A/B, and PRKACA, result in a spectrum of adrenocortical disorders. To date, somatic PRKACA variants and germline PRKACA copy number gain have been associated with the development of cortisol-secreting adrenocortical adenomas and bilateral adrenal hyperplasia, respectively. While variants within the PRKAR1A ge...

hrp0092p1-277 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development

Xu Yufei , Wang Yirou , Li Niu , Yao Ruen , Li Guoqiang , Li Juan , Ding Yu , Chen Yao , Huang Xiaodong , Chen Yuling , Qing Yanrong , Yu Tingting , Shen Yongnian , Wang Xiumin , Shen Yiping , Wang Jian

Context: Diagnosis of non-chromosomal type disorders of sex development (DSD) has long been challenging. There is still no research on overview of a large Chinese DSD cohort.Objective: To determine the etiologic diagnosis through unbiased large-scale panel sequencing and whole-exome sequencing (WES) within a large Chinese DSD cohort.Design: Patients were recruited according to the ...

hrp0092t20 | Top 20 Poster | ESPE2019

Molecular and Phenotypic Spectrum of Noonan Syndrome in Chinese Patients

Li Xin , Yao Ruen , Tan Xin , Li Niu , Ding Yu , Li Juan , Chang Guoying , Chen Yao , Ma Lizhuang , Wang Jian , Fu Lijun , Wang Xiumin

Background: Noonan syndrome (NS) is a common autosomal dominant/recessive disorder. No large-scale study has been conducted on NS in China, which is the most populous country in the world.Methods: Next-generation sequencing (NGS) was used to identify pathogenic variants in patients that exhibited NS-related phenotypes. We assessed the facial features and clinical manifestations of patients with pathogenic or likely patho...

hrp0092p1-44 | Fat, Metabolism and Obesity | ESPE2019

Metabolic Complications After Paediatric Liver Transplantation: A 10-year Longitudinal Study in a South-East Asian Population

Beng Hui Ng Nicholas , Yijuan Lim Yvonne , Wei Li Ho Cindy , Anjian Sng Andrew , Aw Marion , Seng Lee Yung , Yin Loke Kah

Background: Improved patient and graft survival post-liver transplantation has led to a parallel increase in metabolic syndrome (MS) reported in multiple centres. We aimed to study the prevalence and risk factors of metabolic complications in our paediatric liver transplant (LT) cohort.Methods: This was a retrospective review of the LT database from 1995-2018. We studied the incidence of overweight, obesity (WHO BMI crit...

hrp0089p3-p255 | Growth & Syndromes P3 | ESPE2018

Factors Affecting Height Velocity in Normal Prepubertal Children

Kim Seul Ki , Choi Yujung , Lee Seonhwa , Lee Jun Hui , Ahn Moon Bae , Kim Shin Hee , Cho Won Kyung , Cho Kyung Soon , Jung Min Ho , Suh Byung Kyu

Purpose: To analyze the effects of clinical and laboratory factors, including insulin-like growth factor (IGF) levels, on the height velocity of normal prepubertal children.Methods: Ninety-five healthy prepubertal children (33 boys, 62 girls) were enrolled. The mean chronological age of the participants was 6.3±1.4 years, with a height standard deviation score (SDS) of −0.88±0.70. IGF-1, IGF binding protein-3 (IGFBP-3), SDS for anthropome...

hrp0084p3-1139 | Puberty | ESPE2015

Multicentre Study of Early Screening and Prevention of Prader–Willi Syndrome

Lu Wei , Xi Li , Cheng Ruo-Qian , Li Xiao-Jing , Zhang Miao-Ying , Zheng Zhang-Qian , Ye Rong , Zhao Zhu-Hui , Shen Shui-Xian , Luo Fei-Hong

Background: The current diagnostic criteria for Prader–Willi syndrome (PWS) although widely accepted, is challenging to be implemented in Chinese population.Objective and hypotheses: The present study collected PWS cases from 12 centres across China. By analysing the clinical manifestation during early infancy, we aimed to provide data for clinical characteristics, screening strategy and effect of GH treatment in Chinese PWS patients.<p class="a...

hrp0097p1-427 | Diabetes and Insulin | ESPE2023

Quality Improvement Initiative to Improve Influenza Vaccination Uptake Rates in Paediatric Patients with Diabetes Mellitus

Shan Carey Lim Yun , Yin Loke Kah , Seng Lee Yung , Andrew Sng Anjian , Su Annette , Yang Xiuji , Li Cindy Ho Wei , Yvonne Lim Yijuan , Hui Nicholas Ng Beng

Introduction: The annual incidence of severe influenza infections reaches 5 million cases globally. Patients with diabetes mellitus (DM) are known to suffer more severe influenza infections, with increased mortality. Despite vaccination being recommended as standard of care, vaccination uptake rates have remained low for our DM patients. We undertook a quality improvement (QI) initiative to improve influenza vaccination uptake rates in our paediatric DM clinic...