hrp0089p3-p235 | Growth & Syndromes P3 | ESPE2018

Analysis of Genetic Mutations in a Chinese Patient Affected with Noonan Syndrome

Yang Yu , Huang Hui

Objective: The aim of this study was to detect potential gene mutation of Noonan Syndrome in a Chinese family.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The PTPN11, KRAS, SOS1, RAF1, NRAS, BRAF, RIT1, SOS2, LZTR1, SHOC2, CBL, NF1 gene was sequenced to identify the pathogenic mutation responsible for the development of Noonan Syndrome by P...

hrp0089p3-p339 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Analysis of Genetic Mutations in a Chinese Pedigree Affected with Idiopathic Hypogonadotropic Hypogonadism Syndrome

Yang Yu , Huang Hui

Objective: The aim of this study was to detect potential gene mutation of idiopathic hypogonadotropic hypogonadism Syndrome (IHH) in a Chinese family.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A Disorder of Sexual Development (DSD) gene panel was applied to identify the pathogenic mutation responsible for the DSD and verified by Sanger.</...

hrp0084p3-909 | Fat | ESPE2015

Survey Serum 25-Hydroxyvitamin D Concentration in Obese Children and Clinical Significance in Chinese Population

Yang Yu , Xu Lei

Background: Simple obese is a worldwide public health problem. Recent studies suggested a possible relationship between obese and vitamin D deficiency.Objective and hypotheses: To discuss the relationship between 25-Hdroxyvitamin D with glucose and lipid metabolism of simple obese in Chinese children.Method: 65 children with obeses (35 mild-to-moderate, 50 severe) and sixty-two children with normal weight were enrolled in this tria...

hrp0089p3-p138 | Fat, Metabolism and Obesity P3 | ESPE2018

A Compound Heterozygote Mutation in a Chinese Patient Affected with Methylmalonic Acidemia

Yang Yu , Huang Hui , Yuan Yi

Objective: The aim of this study was to detect potential gene mutation of Methylmalonic acidemia (MAA) in a Chinese patient.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A NGS panel include MUT,MMAA,MMAB,MMADHC and MCEE genes was identify the pathogenic mutation responsible for the MAA and verified by Sanger.Results: A...

hrp0089p3-p236 | Growth &amp; Syndromes P3 | ESPE2018

A Novel Homozygous Mutation in ERCC8 Cause Cockayne Syndrome a in a Chinese Family

Yang Yu , Huang Hui , Zhou Bin

Background: Short stature can be caused by mutations in a multitude of different genes. Cockayne Syndrome is a rare growth disorder marked by progressive growth failure, neurologic abnormality. The current report describes a patient with severe short stature and neurologic abnormality.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The gene wa...

hrp0086p1-p606 | Growth P1 | ESPE2016

The Role of IGF-1R Gene Polymorphisms with Regard to Susceptibility to Idiopathic Short Stature Risk in the Chinese Population of Jiangxi Area

Yang Yu , Huang Hui , Yu Zhen , Wang Wei , Yang Li , Huang Wei , Xie Liling

Background: Accumulated evidence indicates that the GH-IGF-1 pathway might be one of the crucial mechanisms of ISS. Insulin-like growth factor-1 receptor (IGF-1R) is the effector molecule that regulates the cascade reaction of hormone receptors in the GH–IGF-1 axis.Objective and hypotheses: To investigate the role of IGF-1R gene polymorphisms with regard to susceptibility to Idiopathic short stature risk in the Chinese population of Jiangxi area.</p...

hrp0082p1-d3-224 | Reproduction (2) | ESPE2014

Test on Kisspeptin Levels in Girls with Idiopathic Central Precocious Puberty and its Significance

Yang Yu , Xiong Xiang-Yu , Yang Li , Xie Li-Ling , Huang Hui

Objective: This paper is aimed to explore the significance of plasma kisspeptin level in diagnosis and therapeutic evaluation through the detection of kisspeption level of girls diagnosed with idiopathic central precocious puberty (ICPP) before treatment and after 6-months of treatment and girls with simple premature thelarche (PT).Methods: A total of 70 girls including 24 girls diagnosed with ICPP, 21 girls with PT and 25 normal girls were enrolled. ELI...

hrp0089p2-p209 | GH &amp; IGFs P2 | ESPE2018

A Novel Mutation of Type I Insulin-like Growth Factor Receptor (IGF1R) Gene in a Severe Short Stature Pedigree Identified by Targeted Next-generation Sequencing (NGS)

Yang Yu , Huang Hui , Li Yang , Xie Liling , Chen Ka , Xiong Ting , Wu Xian

Objective: To identify genetic mutations of a pedigree affected by severe short stature in Chinese populations for the first time.Methods: Auxological and endocrinological profiles were measured. Targeted next-generation sequencing (NGS) analyses comprising 277 shorted stature-associated candidate genes and 19 related copy number variation (CNV) regions were used to identify gene mutations in the proband. Three web-based software programs (SIFT, PolyPhen...

hrp0094p2-379 | Pituitary, neuroendocrinology and puberty | ESPE2021

An Observational, Retrospective Study to Evaluate Long Term Safety and Effectiveness of Leuprorelin in the Treatment of Central Precocious Puberty

Fu Junfen , Dong Guanping , Li Pin , Gong Yan , Yang Yu , Yang Li , Gu Wei , Yuan Xuewen , Luo Xiaoping , Hou Ling , Zhong Yan , You Cheng , Wang Winston , Guo Ziheng ,

Objectives: To describe safety and effectiveness of high (≥90-180 µg/kg) and low (<90-30 µg/kg) dose leuprorelin in treating central precocious puberty (CPP).Methods: In this observational, retrospective study, effectiveness was evaluated based on regression or no progression of Tanner staging as the primary outcomes. LH, FSH, estradiol or testosterone suppression, and decrease in bone age to chronolo...

hrp0092p3-145 | GH and IGFs | ESPE2019

Final Adult Height of Children with Idiopathic Short Stature: A Multicenter Study on GH Therapy Alone Started During Peripuberty

Wu Di , Chen Rui-min , Chen Shao-ke , Liu Ge-li , Chen Lin-qi , Yang Yu , Wang Xin-li , Peng Ya-guang , Gong Chun-xiu

Purpose: To evaluate the efficacy of GH in improving FAH in ISS children in a multicenter study.Methods: A real-world observation was carried out. Children with ISS in seven hospitals in China were enrolled. The height gain standard deviation score and the height gain over the target height were evaluated.Results: There were 344 ISS patients (217 boys and 127 girls). The baseline a...