hrp0092p3-193 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

The Pubertal Development Mode of Chinese Turner Syndrome Girls with Hormone Replacement Therapy

Guo Song , Zhang Jun , Chen Qiu , Li Yanhong , Ma Huamei , Chen Hongshan , Du Minlian

Background: Detail knowledge of pubertal development mode in girls with Turner syndrome (TS) who underwent hormone replacement therapy (HRT) is benefit for the proposal of an optimal HRT. The study was to study the pubertal development mode of girls with TS who underwent HRT and to evaluate the optimal therapy for sex induction in girls with TS.Method: We present a retrospective, longitudinal study over the past two deca...

hrp0089p2-p034 | Adrenals and HPA Axis P2 | ESPE2018

Etiology of Primary Adrenal Insufficiency in Children: a 29-year Single Center Experience

Ma Huamei , Zhang Jun , Guo Song , Li Yanhong , Chen Hongshan , Chen Qiu , Du Minlian , Li Shaofu

Objective: To investigate the etiology and clinical features of Chinese children with PAI.Method: 427 children (age 0–18 years) with PAI followed at our institution between September 1989 and March 2016 were studied.Results: 1. 228 males and 199 female (1.14:1) were included. Median age at diagnosis was 1.66 (10th–90th, 0.06~8.73 yrs.2. An identified diagnosis(clinical or genetic) was obtained in 93...

hrp0089p3-p399 | Diabetes & Insulin P3 | ESPE2018

Family Investigation and Clinical Phenotype Analysis of Type A Insulin Resistance Syndrome

Chen Yonghua , Chen Hong , Fang Yanlan , Wang Chunlin , Zhu Jianfang , Liang Li

Objective To study a large Chinese family with Type A Insulin Resistance Syndrome (TAIRS) and the members’ clinical phenotypes. Explore their genotype-phenotype relationship between environmental factors and hereditary features. Methods 19 members of the family were investigated for their past history, dietary habits and living habits. PCR and Sanger sequencing were applied to detect mutations of the INSR gene among 6 core members from the Pedigree. Besides, fasting blood...

hrp0086p1-p831 | Syndromes: Mechanisms and Management P1 | ESPE2016

Serum Levels of IL-6, TNF-a, Omentin-1 are Increased in Girls with Turner Syndrome

Chen Hongshan , Xiong Hui , Du Minlian , Li Yanhong , Ma Huamei , Chen Quili , Zhang Jun , Guo Song

Objective: To assess the serum levels of IL-6, TNF-a and Omentin-1 in girls with Turner Syndrome (TS) and to analyze their association with FPG, FINS, TC, TG, HDL-c, LDL-c, and BMISDS.Methods: In total of 33 TS girls aged (12.8±3.9) yr and 33 age-matched normal girls aged (12.6±3.7) yr were recruited in the study. Height (Ht) and Weight (Wt) were measured; FPG, FINS, TC, TG, HDL-c, LDL-c, IGF-1 and E2 were also measured; BMI and BMISDS were cal...

hrp0082p2-d1-568 | Sex Development | ESPE2014

46XY, DSD due to 5α-Reductase Type 2 Deficiency in 19 Chinese Patients

Li Yan-Hong , Du Min-Lian , Ma Hua-Mei , Chen Hong-Shan , Chen Qiu-Li

Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...

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...

hrp0092fc1.1 | Diabetes and Insulin Session 1 | ESPE2019

Insulin Resistance Leads to Mitochondrial Dysfunction in Hepatocyte

Chen Hong , Fang Yanlan , Liang Li , Wang Chunlin

Background: Insulin resistance in obesity and type 2 diabetes is associated with abnormalities in mitochondrial oxidative phosphorylation in skeletal muscle. Whether mitochondrial function changes in hepatocytes with hereditary insulin resistance is not clear. Type A Insulin Resistance Syndrome (TAIRS) is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone ins...

hrp0092rfc5.6 | Thyroid | ESPE2019

Complex Single Nucleotide Polymorphisms in SEPINA 7 Lead to TBG Deficiency

yanlan Fang , Hong Chen , Li Liang , Chunlin Wang

Objective: Thyroxine binding globulin (TBG) is the most important thyroid hormone transporter in humans and is encoded by the SERPINA7 gene located on chromosome Xq22.2. By analyzing the genes of TBG-deficient patients, we aim to find a new molecular basis for the possible etiology of the disease.Design and Methods: 10 groups of subjects were enrolled in the pediatric department of the First Affiliated Hospital of Zhejia...

hrp0092p1-61 | Fat, Metabolism and Obesity | ESPE2019

Association Among PGRN, HMGB1, and Obesity Related Markers in Young Rat Model of High Fat Diet-Induced Obesity

Chen Hongshan , Li Dan , Zhang Yuanyuan , Huang Siqi , He Xiaohua

Objective: We aim to investigate the association among progranulin (PGRN), high-mobility group box 1 (HMGB1), and obesity related markers in young rat model of high fat diet-induced obesity.Materials and Methods: 20 Male Sprague-Dawley (SD) rats at the age of 21 days were divided into two groups randomly. The rats were fed with normal diet (NC group) or high-fat diet (OB group). The NC group and OB group were sacrificed ...

hrp0092p1-63 | Fat, Metabolism and Obesity | ESPE2019

Altered Gut Microbiota in Obese Children: Sex-associated Signature

Chen Ruimin , Ai Zhuanzhuan , Yang Xiaohong , Zhang Ying , Yuan Xin

Background: The incidence of obesity, especially in children, have dramatically increased over the last few decades. Recently, studies highlighted the involvement of gut microbiota in the pathophysiology of obesity. Gender-related differences have been reported in animal and adult. Nonetheless, reports related on the features of gut microbiota in children with obesity is limited and no one reported the different composition of gut microbiota at different sex o...