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...

hrp0092rfc4.2 | Fat Metabolism and Obesity Session | ESPE2019

Circulating Exosomal miRNAs in Children's Nonalcoholic Steatohepatitis and the Correlation with Serum Transaminase and Uric Acid

Zhou Xuelian , Huang Ke , Ni Yan , Yuan Jinna , Liang Xinyi , Lin Hu , Dong Guanping , Fu Junfen

Background: The incidence of non-alcoholic fatty liver disease (NAFLD) in children increased rapidly paralleled with the global burden of obesity and diabetes. Although most patients are nonalcoholic fatty liver (NAFL), once progress to nonalcoholic steatohepatitis (NASH), the risk of liver fibrosis and cirrhosis increase significantly. However, the pathogenesis of NAFLD, especially how NAFL progress to NASH is still unclear. Exosomal miRNAs have attracted att...

hrp0092lb-24 | Late Breaking Posters | ESPE2019

Abdominal Adiposity and Total Body Fat as Predictors of Cardiometabolic Health in Pre-Pubertal and Pubertal Youth

Jin Binghan , Derraik José G B , Fu JunFen , Lin Hu , Yuan Jinna , Dong Guanping

Objective: We aimed to investigate the usefulness of abdominal adiposity and total body fat as predictors of cardiometabolic health, especially insulin sensitivity, in children and adolescents.Methods: Participants were 479 children and adolescents with obesity (322 boys and 157 girls) aged 3 to 18 years attending the Children's Hospital at Zhejiang University School of Medicine (Hangzhou, China). Participants underw...

hrp0098p1-300 | Late Breaking 1 | ESPE2024

The Diagnostic and Therapeutic Monitoring Value of Morning Urinary Gonadotropins for Central Precocious Puberty in Girls with Different BMI

Xu Huijiao , Yuan Xin , Wu Wenyong , Hu Zhijian , Chen Ruimin , Luo Xiaoping

Objective: To explore the diagnostic value of morning urinary gonadotropins for assessing central precocious puberty (CPP) in girls with varying BMI and the potential use of first morning voided urinary luteinizing hormone (FMV ULH) in monitoring CPP treatment.Methods: A total of 335 precocious puberty girls were selected. Data of serum luteinizing hormone (LH), follicle stimulating hormone (FSH), gonadotropin-releasing ...

hrp0095p2-184 | Growth and Syndromes | ESPE2022

Clinical characteristics and genetic analysis of BLM gene mutation with Bloom syndrome without facial erythema changes

Huang Hui , Yang Yu , Shuai Xia , Xiong Xiangyu , Chen Ka

Objective: To retrospectively analyze the clinical data, laboratory examination, gene test results, diagnosis and treatment of a case of small gestational age, short stature and microcephaly in the department of Endocrinology, Genetics and Metabolism of Jiangxi Children's Hospital.Methods: The detailed clinical symptoms and family history of the children and their families were evaluated. 2ml peripheral blood of the...

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,...

hrp0092p1-184 | Diabetes and Insulin (1) | ESPE2019

A Case with Monogenic Diabetes Caused by RFX6 Mutation in a 14-Year-Old-Girl

Kim Goo Lyeon , Kwak Soo Heon , Yu Jeesuk

Introduction: In previous times, diabetes mellitus in children and adolescents was usually type 1 diabetes which was caused by autoimmune beta cell destruction, but due to the increased prevalence of obesity, the incidence of type 2 diabetes was explosively increased in children and adolescents. The underlying mechanism of childhood-onset type 2 diabetes mellitus may be different to the adult-onset type 2 diabetes. It is worthwhile to find new causes of monoge...

hrp0092p1-219 | GH and IGFs (1) | ESPE2019

The Therapeutic Effect of A Traditional Chinese Medicine Mixture in Rat Models with Precocious Puberty through Lin28/Let7 Pathway

Yuanyuan He , Xinhui Han , Wen Sun , Jian Yu

Background: The onset of puberty is a complex biological process involving numerous factors under the control of the neuroendocrine pathways that are regulated as part of the hypothalamus-pituitary-gonadal (HPG) axis. The key step in puberty onset is activation of gonadotropin releasing hormone (GnRH) pulses and secretion. Recent evidence suggests that the Lin28/let7 pathway might be a critical regulator of GnRH release and that it might play an important role...

hrp0092p3-64 | Diabetes and Insulin | ESPE2019

De Novo Mutation of ABCC8 Gene in a Child with MODY Developed at 25 Months of Age

Lyeon Kim Goo , Heon Kwak Soo , Yu Jeesuk

Introduction: Recently the incidence of type 2 diabetes was explosively increased in children and adolescents. The underlying mechanism of childhood-onset type 2 diabetes mellitus may be different to the adult-onset type 2 diabetes. Therefore, it is useful to conduct genetic study in children with type 2 feature to understand underlying cause of glycemic dysregulation as well as for the management of diabetes mellitus.Case</stron...