hrp0086rfc15.5 | Late Breaking | ESPE2016

Effect of Melatonin on Proliferation and Differentiation of Human Dental Pulp Cells

He Hongwen , Liu Qin , Huang Fang , Zhang Fuping

Background: Melatonin is known to regulate a variety of biological processes. The investigation and application of melatonin in oral development have got a lot of attention. The study was performed to investigate the effects of melatonin on development of human dentin formation.Objective and hypotheses: To investigate the role of melatonin in proliferation and differentiation of human dental pulp cells(hDPCs).Method: HDPCs were obt...

hrp0086p2-p587 | Perinatal Endocrinology P2 | ESPE2016

Permanent Neonatal Diabetes Mellitus Due to a G32S Heterozygous Mutation in the Insulin Gene

Xu Xiao-qin , Huang Ke , Hong Fang

Background: Permanent neonatal diabetes mellitus (PNDM) is a rare form of monogenic diabetes with onset less than 6 months of age. Together, activating mutations in KCNJ11 and ABCC8 genes, that encode the Kir6.2 andsulfonylurea receptor 1 (SUR1) subunits, respectively, account for nearly 50% of PNDM cases.Case report: We present a case reported a child diagnosed with PNDM resulting from a new mutation in the insulin (INS) gene, leading to severe hypergly...

hrp0097p1-219 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

An investigation of vitamin D deficiency in children with new onset type 1 diabetes mellitus from Henan Province, China

Chen Qiong , Yuan Shuxian , Chen Yongxing , Li Tao , Yang Wei , Huang Ai , Liu Fang , Cao Bingyan , Wei Haiyan

Several observational studies have reported vitamin D deficiency (VDD) in children with type 1 diabetes mellitus (T1DM). The investigation of VDD in children with new onset T1DM in China is lacking. The current study aimed to assess vitamin D status and examine the factors that influence VDD in children with new onset T1DM in Henan Province, China. Children with new onset T1DM (n=280) and healthy controls (n=710) were enrolled in Henan Province. Demographic a...

hrp0089p3-p235 | Growth & Syndromes P3 | ESPE2018

Analysis of Genetic Mutations in a Chinese Patient Affected with Noonan Syndrome

Yang Yu , Huang Hui

Objective: The aim of this study was to detect potential gene mutation of Noonan Syndrome in a Chinese family.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The PTPN11, KRAS, SOS1, RAF1, NRAS, BRAF, RIT1, SOS2, LZTR1, SHOC2, CBL, NF1 gene was sequenced to identify the pathogenic mutation responsible for the development of Noonan Syndrome by P...

hrp0089p3-p339 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Analysis of Genetic Mutations in a Chinese Pedigree Affected with Idiopathic Hypogonadotropic Hypogonadism Syndrome

Yang Yu , Huang Hui

Objective: The aim of this study was to detect potential gene mutation of idiopathic hypogonadotropic hypogonadism Syndrome (IHH) in a Chinese family.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A Disorder of Sexual Development (DSD) gene panel was applied to identify the pathogenic mutation responsible for the DSD and verified by Sanger.</...

hrp0086p1-p910 | Thyroid P1 | ESPE2016

Partial Thyroxine Binding Globulin Deficiency in Test Tube Babies: Cases Report and Literatures Review

Yanlan Fang , Chunlin Wang , Li Liang

Background: Partial thyroxine-binding globulin deficiency (TBG-PD) is an endocrine defect with a prevalence of 1:4 000 in newborns. Due to the presence of a single TBG gene on the X chromosome.Objective and hypotheses: To investigate the clinical characteristics of twins with thyroxine binding globulin deficiency and to find SERPINA7 gene mutations.Method: Data related to clinical characteristics, serum biochemistry, gene mutations...

hrp0082p1-d3-223 | Reproduction (2) | ESPE2014

Serum Bisphenol a Concentration and Premature Thelarche in Female Infants Aged 4-Month to 2-Year-Old

Yanlan Fang , Lianhui Chen , Li Liang

Background: Bisphenol A (BPA) is one of high production-volume chemicals and used extensively in consumer products, including food containers and epoxy food-can coatings. The primary source of BPA exposure in adults is via food and beverages, while among infants breast milk and polycarbonate feeding bottles are the predominant source of BPA exposure.Objectives and hypotheses: To estimate the association between serum BPA A and premature thelarche in fema...

hrp0082p3-d1-771 | Fat Metabolism &amp; Obesity | ESPE2014

Level of Non-HDL Cholesterol and its Related Factors in Chinese Han Students

Yanlan Fang , Li Liang , Junfen Fu

Background: Cardiovascular disease is one of the most prominent causes of mortality world widely. A key related factor of atherosclerotic cardiovascular disease is the presence of dyslipidemia. Together with elevated blood pressure, obesity, and diabetes mellitus, dyslipidemia is a component of metabolic syndrome and associated with an increasing incidence of coronary heart disease.Objective and hypotheses: The aim of this study was to investigate the co...

hrp0092p2-125 | Fat, Metabolism and Obesity | ESPE2019

Clinical Features and Genetic Analysis of Childhood Dyslipidemia

Huang Dan , ZOU Chao-Chun

Objective: Dyslipidemia is a disease characterized by a genetic or multifactorial disorder of lipid and/or lipoprotein metabolism. Childhood dyslipidemia is a rare genetic metabolic disease that can cause serious cardiovascular disease and seriously endanger children's health.Methods: We retrospectively analyzed the clinical data of 10 patients with dyslipidemia who were admitted to the Department of Endocrinology, C...

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...