hrp0092p1-182 | Diabetes and Insulin (1) | ESPE2019

The Influence of Excess Iron on Pancreatic Beta Cells

Zhang Lina , Hou Lele , Liu Zulin , Li Pinggan , Huang Siqi , Meng Zhe , Ou Hui , Jiang Zhuannan , Liang Liyang

Objective: To establish INS-1 cell iron overload model, and study the effect on iron overload, proliferation, insulin secretion, mitochondria defect and oxidative stress change.Methods: INS-1 cells were cultured with different concentrations (0 as control and 5, 10, 20, 40, 80,160,320µmol/L respectively) of ferric ammonium citrate (FAC). Labile iron pool (LIP) were calculated by detecting calcein-AM fluorescence ...

hrp0092p1-316 | Diabetes and Insulin (2) | ESPE2019

An Evaluation of the Accuracy of a Flash Glucose Monitoring System in Children with Diabetes in Comparison with Venous Blood Glucose

Cao Bingyan , Wang Rui , Gong Chunxiu , Wu Di , Su Chang , Chen Jiajia , Yi Yajun , Liu Min , Liang Xuejun , Li Wenjing

Aims: To evaluate the performance of a factory-calibrated flash glucose monitoring system in children with diabetes compared to venous blood glucose (BG).Methods: A total of 13 hospitalized participants newly diagnosed with type 1 diabetes, aged 1~14 years old, were involved in the study. Sensor glucose measurements on days 2, 3, 6, 7, 12 and 13 of wear were compared with venous BG. During these days, the venous BG ...

hrp0092p3-1 | Adrenals and HPA Axis | ESPE2019

A Case of Cushing Syndrome in a Wilms' Tumour

Lim Yvonne Yijuan , Sng Andrew Anjian , BH Ng Nicholas , Ho Wei-li Cindy , Loke Kah-yin , Lee Yung-seng

Paraneoplastic Cushing syndrome is extremely rare. To date, there are few reported cases related to Wilms' tumor. We describe a patient who presented with Cushing syndrome and was subsequently found to have Wilms' tumor. Our patient is a 9 year-old boy, who presented with hyperphagia and excessive weight gain for 3 months. His abdomen was also progressively bigger. There was no ingestion of steroids or traditional medication. Subsequently he sought medical advice becau...

hrp0092p3-241 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

46XY, DSD with Hemolytic Uremic Syndrome as the Primary Manifestation——Denys–Drash Syndrome Caused by WT1 Gene Mutation

zhang jun , guo song , chen qiuli , ma huamei , li yanhong , chen hongshan , du minlian , cheng cheng , ye minyi

Objective: To summarize the diagnosis and treatment of a rare 46XY DSD cause: Denys-Drash syndrome.Methods: To summarize the clinical manifestations, laboratory tests, diagnosis and treatment of a rare 46XY DSD cause presenting with hemolytic uremic syndrome: Denys-Drash syndrome (WT1 mutation).Results: Female, 2 years and 4 months, were admitted to the hospital at 2018-11-7 becaus...

hrp0089p2-p113 | Diabetes & Insulin P2 | ESPE2018

Detection and Analysis of Glycometabolism Related Genes in Children Diabetes

Chen Lin QI , Wang Xiao Yan , Wu Hai Ying , Chen Ting , Chen Xiu Li , Sun Hui , Wang Feng Yun

Objective: To know more about the etiology and mechanism of antibody-negative diabetes, screening MODY pathogenicity genes and deepening understanding of islet autoantibody-negative diabetes, so as to individualized precision treatment.Methods: A total of 31 subjects with diabetes who had negative islet autoantibodies and C-peptide ≥0.3 ng/ml were collected. Another group was the type 1 diabetes control group, After informed consent obtained patien...

hrp0089p3-p107 | Diabetes & Insulin P3 | ESPE2018

The Value of Continuous Hemodiafiltration in Rescuing Children with Severe Diabetic Ketoacidosis

Chen Lin QI , Zhang Dan Dan , Wu Hai Ying , Chen Ting , Chen Xiu Li , Wang Feng Yun , Xie Rong Rong

Objective: To explore the value of continuous hemodiafiltration in rescuing children with severe diabetic ketoacidosis.Method: Two children with severe diabetic ketoacidosis were studied in regard to clinical manifestation, laboratory examination and treatment and of the relevant literature was reviewed.Result: Case 1 was a girl of 13 years 5 months old, who was diagnosed as ‘Type 1 diabetes mellitus, Diabetic ketoacidosis and...

hrp0082p3-d2-823 | Growth (1) | ESPE2014

Correlation Between Initial Treatment Effect of Recombinant Human GH and Exon 3 Polymorphism of GH Receptor in Chinese GH Deficiency Children

Zheng Zhangqian , Cao Linfeng , Pei Zhou , Luo Feihong , Zhi Dijing , Zhao Zhuhui , Ye Rong , Cheng Ruoqian , Li Xiaojing

Objective and hypotheses: To investigate the frequency distribution of exon 3 deleted (d3-GHR) genetic polymorphism of GH receptor (GHR) in GH deficient (GHD) Chinese children and to explore the correlation between the growth promoting effects of recombinant human GH (rhGH) and exon 3 genetic polymorphism of GHR in GHD children.Method: 111 GHD (excluded small for gestational age) children were treated with rhGH (0.20 mg/kg per week) for 6 months. The bod...

hrp0082p3-d1-878 | Perinatal and Neonatal Endocrinology | ESPE2014

Clinical and Genetic Analysis of 95 Cases of Congenital Hyperinsulinism

Huang Shuyue , Gong Chunxiu , Su Chang , Qi Zhan , Wu Di , Cao Bingyan , Gu Yi , Li Wenjing , Liu Min , Liang Xuejun

Background: We want to know the clinical presentation and genetic mutation of congenital hyperinsulinism (CHI) patients in our country.Objective and hypotheses: To investigate the clinical outcomes and gene mutations related to CHI in our patients.Method: We studied the therapeutic outcomes of 95 cases of CHI and analyzed the associations between gene mutations and clinical features in 55 cases.Results: Among...

hrp0082lbp-d3-1002 | (1) | ESPE2014

Pseudoexon Activation in Nicotinamide Nucleotide Transhydrogenase in Two Siblings with Familial Glucocorticoid Deficiency

Chan Li , Novoselova Tatiana , Rath Shoshana , Carpenter Karen , Atkinson H , Dickinson Jan , Pachter Nick , Price G , Choong Cathy , Metherell Lou

Background: Two siblings of non-consanguineous parents presented with FGD, demonstrated by ACTH resistance with glucocorticoid but not mineralocorticoid deficiency. The proband presented at 21 months, unresponsive with hypoglycaemia (BGL 1.5 mmol/l). Endocrine evaluation subsequent to resuscitation indicated adrenal insufficiency with elevated ACTH. Hydrocortisone therapy was commenced. A sibling, 4 years younger than the proband had a short Synacthen test (SST) performed on d...

hrp0094p1-97 | Thyroid A | ESPE2021

The association between serum Thyrotropin within the reference range and cardiometabolic risk in obese children

Tropeano Angelo , Corica Domenico , Curatola Selenia L. , Pomi Alessandra Li , Casto Celeste , Pepe Giorgia , Aversa Tommaso , Alibrandi Angela , Wasniewska Malgorzata ,

Background: The adaptative increase of serum thyrotropin (TSH) levels in obese subjects may affect the metabolic regulation of body tissues and thus promote an unfavorable cardiometabolic profile.Aim: To investigate the association between serum TSH, free thyroxine (FT4) and cardiometabolic risk factors in euthyroid obese children and adolescents.Material and Methods: Four hundred ninety-one Caucas...