hrp0084p3-1054 | Growth | ESPE2015

To Investigate the Changes of Hormone Levels and Body Composition in Pubertal Children with Growth Retardation: a Clinical Controlled Study

Wu Su , Liu Qian-qi , Gu Wei , Zhu Zi-yang , Shi Xing , Ni Shi-ning

Background: Adolescent growth spurt is the fast and intense increase in the rate of growth in height and weight that occurs during the adolescent stage of the human life cycle.Objective and hypotheses: To investigate the changes of hormone levels and body composition in pubertal children with growth retardation.Method: A non-randomised clinical controlled study was conducted in 208 cases (males 122, 10–14 years and females 86,...

hrp0097p1-531 | Multisystem Endocrine Disorders | ESPE2023

Clinical analysis of 193 patients with McCune-Albright syndrome in China based on literature review

Feng Xin , Yuan ke , Lu Huifei , Tu Haifeng , Zhu Jianfang , Fang yanlan , Yan Qingfeng , Wang Chunlin

Objective Summarizing and analysing the clinical characteristics of 193 patients with McCune-Albright syndrome (MAS) in China to improve the understanding of MAS for early detection, diagnosis and management. Methods All MAS-themed case-report or case-series studies published by the Chinese between January 1990 and November 2022 were retrieved from the Wanfang Full Text, CNKI, China Science and Technology Journal, PubMed and Embase databases, and clinical data were collected. ...

hrp0092p1-200 | Fat, Metabolism and Obesity (1) | ESPE2019

Ferritin, an Indicator for Inflammation or Iron Storage in Obese Children?

Wu Wei , Yuan Jinna , Yu Yunxian , Shen Yu , Dong Guanping , Huang Ke , Zhang Li , Fu Junfen

Ferritin is a widely used iron storage indicator. At the same time, it is also viewed as an indicator of inflammation. Chronic low-grade inflammation in obese individual, especially in the one with metabolic disorders, related to comorbidities and poor prognosis. Both hyperglycemia and iron overload can induce inflammation and result in vascular endothelial dysfunction. To study the role of ferritin in obese children and its impact on artery and liver, the present study invest...

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...

hrp0095p1-576 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Relationship between environmental effects and metabolic characteristics of partial and central precocious puberty in girls: Understanding pathogenesis and identifying specific biomarkers

Chen Jing , Wu Jinxia , Huang Rong , Zhu Hongwei , Che Lin , Lin Yanyan , Chang Yajie , Shen Guiping , Feng Jianghua

Background: The differential diagnosis of partial precocious puberty (PPP) and central precocious puberty (CPP) is vital to the prompt intervention and administration, but their specific biomarkers are still unavailable. The potential harmful effects of environmental factors on children's growth and development attract great concern and require urgent investigation.Objective: The metabolic differences and connection...

hrp0082p3-d1-768 | Fat Metabolism &amp; Obesity | ESPE2014

Serum Omentin-1 and Vaspin Levels in Obese Children and Their Correlation with Lipid Metabolism

Chen Hong-Shan , Xu Ling-Ling , Zhu Shun-Ye , Pan Si-Nian , Du Min-lian , Su Zhe

Objective: To investigate the serum levels of omentin-1 and vaspin in obese children and their correlation with lipid metabolism.Methods: Fifty-nine children participated in the study, among the 59 subjects, 30 of were obese [(9.43±2.02) years old] and 29 were non-obese controls [(10.3±2.2) years old], there was no statistical difference in age between the two groups. Serum levels of omentin-1 and vaspin were measured by ELISA method.The concen...

hrp0094p2-182 | Fat, metabolism and obesity | ESPE2021

Describing the Natural History of Clinical, Biochemical and Radiological outcomes of children with Familial Partial Lipodystrophy type 2 (FPLD2) attending a National Service for Severe Insulin Resistance: a Retrospective Cohort Study

Xuan Zhong Zhu , Stears Anna , Harris Julie , Wilber Ellen , Savage David , O’Rahilly Stephen , Williams Rachel ,

Background: FPLD2 results from autosomal dominant mutations in the LMNA gene. The physical appearance develops through adolescence where subcutaneous fat deposits of the limbs, trunk, buttocks and legs do not develop resulting in a muscular appearance. The metabolic phenotype includes elevations in triglyceride concentrations and hepatosteatosis with resultant insulin resistance. Co-morbidities that may manifest during young adulthood include early-onset diabe...

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,...