hrp0098p1-80 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2024

A 12-month, Open-Label, Single-Arm, Phase 3 Trial of the Efficacy and Safety of Triptorelin 6-Month Formulation in Chinese Children with Central Precocious Puberty

Yu Xiao , Cheng Xinran , Xu Xu , Gong Chunxiu , Li Guimei , Yao Hui , Zhou Li , Zhong Yan , Yang Yu , Luo Feihong , Zhang Yining , Huang Frank , Shi Xiaofeng , Cabri Patrick , Luo Xiaoping

Objectives: The gonadotropin-releasing hormone (GnRH) analogue triptorelin is used to treat central precocious puberty (CPP) in 1-, 3- and 6-month prolonged-release (PR) formulations. Currently, only the 1- and 3-month formulations are approved for CPP in China. However, the 6-month formulation is available for CPP treatment in numerous countries; this study assessed the efficacy and safety of this formulation in Chinese children with CPP.<p class="abstext...

hrp0095p1-205 | Adrenals and HPA Axis | ESPE2022

Exploring the growth curves of 248 Chinese patients aged 0-3 years with salt-wasting 21-hydroxylase deficiency

Li Yingying , Fan Xin , Wang Yirou , Zhao Xiu , Pan Lili , Yu Yuting , Gong Gong Chunxiu , Su Zhe

Background: To construct the growth curves of body length and weight for Chinese patients from birth to 3 years with salt-wasting 21-hydroxylase deficiency (SW 21-OHD), changes in body mass index (BMI) will also be described, so as to explore the growth pattern of these special patients and guide the monitoring of early growth.Methods: The body length and weight data of SW 21-OHD patients aged 0-3 years who visited in 4 ...

hrp0095p1-249 | Diabetes and Insulin | ESPE2022

Glycemic control and complications of type 2 diabetes mellitus in children and adolescents during the COVID-19 outbreak

Rhie Young-Jun , Eun Oh Kyeong , Jin Kim Yu , Kang Eungu , Nam Hyo-Kyoung , Lee Kee-Hyoung

Introduction: Obesity has been on the rise in children, adolescents and young adults during the Corona virus disesase-2019 (COVID-19) outbreak. Obesity is known as the main risk factor for a number of diseases including type 2 diabetes mellitus (T2DM) and more than 90 percent of T2DM patients are overweight or obese. Along with the rise in obesity during the COVID-19 pandemic, we investigated the impact of COVD-19 pandemic on type 2 diabetes in children and ad...

hrp0095p1-558 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Simultaneous quantification of 51 steroids in pediatric plasma and urine samples by LC–MS/MS

Wu Xiaoyu , Chen Yao , Li Xiaoqing , Xue Peng , Tang Jingyi , Yu Xiaodan , Zheng Liang , Wang Xiumin , Liu Shijian

Quantitative analysis of endogenous and exogenous steroid hormones is an important step for our understanding of the causes of endocrine disorders in pediatric. In this study, we developed a method to simultaneously quantify endogenous and exogenous steroids in pediatric urine and plasma. Ultra-performance liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to simultaneously quantify steroid hormones in children plasma and urine. Under the optimum conditions, th...

hrp0092rfc6.1 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

EFTUD2 Gene Deficiency Disturbs Maturation of Osteoblast and Inhibits Chondrocyte Differentiation via Activated p53 Signaling

Wu Jing , Yang Yi , He You , Li Qiang , Wang Xu , Sun Chengjun , Wang Lishun , An Yu , Luo Feihong

Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia and short stature. Loss of function mutations of EFTUD2 were previously reported in MFDM, however, the mechanism underlying EFTUD2-associated skeletal dysplasia remains unclear. Here, we identified a novel frameshift mutation of EFTUD2 in a MFDM Chinese patient...

hrp0089p3-p190 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Clinical and Molecular Genetic Characterization of Two Patients due to Mutations

Ding Yu , Li Niu , Chang Guoying , Li Juan , Yao Ruen , Shen Yiping , Wang Jian , Huang Xiaodong , Wang Xiumin

Background: The Phosphoglucomutase 1 (PGM1) enzyme plays a central role in glucose homeostasis by catalyzing the inter-conversion of glucose 1-phosphate and glucose 6-phosphate. Recently, PGM1 deficiency was recognized to cause the congenital disorders of glycosylation (CDGs). PGM1 deficiency is a rare, autosomal recessive inherited disease which can cause the extreme variability of clinical symptoms multi-organ dysfunction, including ketotic hypoglycemia, dilated cardiomyopat...

hrp0089p2-p264 | Growth &amp; Syndromes P2 | ESPE2018

Targeted/Exome Sequencing Identified Mutations in 55 Chinese Children Diagnosed with Noonan Syndrome and a Autosomal Recessive form Associated with LZTR1 Variants

Li Xin , Yao Ruen , Chen Yao , Chang Guoying , Ding Yu , Li Juan , Shen Yiping , Wang Xiumin , Wang Jian

Background: Noonan syndrome (NS) is generally considered an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. The latest research confirmed the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1. In this study, we diagnosed 55 Chinese NS Children via targeted sequencing or whole exome sequencing (TS/WES).<p ...

hrp0089p3-p248 | Growth &amp; Syndromes P3 | ESPE2018

Prediction of Response to Growth Hormone Treatment in Korean Girls with Turner Syndrome

Jung Mo Kyung , Kim Se Young , Lee Ji-Eun , Kim Hae Soon , Yu Jeesuk , Yoo Eun-Gyong

Purpose: Growth hormone (GH) treatment has become common practice in Turner syndrome (TS) to improve final adult height. However, there are only a few studies on the analysis of good responders to GH treatment in TS. The aim of this study is to predict the responsiveness to growth hormone therapy in Turner syndrome.Methods: Among 197 TS patients registered in LG Growth study, 92 patients were excluded because of systemic illness or hypothyroidism. The cl...

hrp0086p1-p248 | Diabetes P1 | ESPE2016

GCK Mutations in Chinese MODY2 Patients: A Family Pedigree Report and Review of Chinese Literature

Ping Xiao Yu , Xu Xiao Hua , Lan Fang Yan , Qiong Jiang Li , Chen Chun , Liang Li , Lin Wang Chun

Background: Maturity-onset diabetes of the young, type 2 (MODY2), caused by mutations in the glucokinase (GCK) gene is rare in a Chinese population.Objective and hypotheses: We report three Chinese families with MODY2 and sequenced the GCK gene to find novo mutation.Method: Three unrelated Chinese families with MODY2 and pedigrees were investigated. In Family 1, the proband was a 7-year-old girl with impaired fasting glucose (IFG) ...

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...