hrp0095p2-268 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Case Report:Clinical and genetic features of 46, XY DSD caused by a mutation in DHX37 gene

Yang Yu , Huang Hui , Wu Tieniu , Yang Li

The DHX37 gene has been identified to cause 46, XY disorders of sex development (DSD), yet there are no reports in China. Here, we report a Chinese pediatric case of 46, XY DSD identified by Whole-exome sequencing which carried a heterozygous missense mutation c.2020 C > T (P.R674 W) in DHX37 gene (NM _ 032656) inherited from the mother. Gonadal pathology showed that the left gonad was structured with a vas deferens and epididymal duct, and the right gonad had vas deferens,...

hrp0092p2-238 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Risk Factors for Hypogonadism in Patients with β-Thalassemia Major: A Cross-Sectional Study

Jiang Zhuan-nan , Liang Li-yang , Meng Zhe

Objective: To investigate the prevalence of hypogonadism in patients with β-Thalassemia Major (β-TM) and explore the risk factors.Method: 42 β-TM patients (≥= 10 years old) were investigated by questionnaire, physical examination and laboratory examination to evaluate their stages of puberty development and sex hormone level.And then,effects of age, the beginning age of chelation, iron overload, geno...

hrp0089p2-p209 | GH & 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...

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...

hrp0089p3-p272 | Multisystem Endocrine Disorders P3 | ESPE2018

Two Cases of Costello Syndrome and Literatures Review

Zhuan-Nan Jiang , Le-le Hou , Zu-lin Liu , Hui Ou , Zhe Meng , Li-na Zhang , Li-yang Liang

Objective: To investigate the clinical features and genetic characteristics of HRAS-associated Costello Syndrome.Method: Characteristics of clinical data and gene mutation of two cases Costello Syndrome in XX hospital were retrospectively analyzed. The related literature was searched by using search terms ‘HRAS’ or ‘Costello Syndrome’.Result: Both patients were presented with mental retardation, growth retardati...

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...

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...