hrp0089p1-p060 | Diabetes & Insulin P1 | ESPE2018

IPEX as a Result of Mutations in FOXP3 Two Case Reports and Review of the Literature

Zhu Qiong , Wang Chunlin

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations in the Forkhead/winged helix transcription factor (FOXP3) gene and is a rare disorder that increasingly has gained attention as a model of genetic autoimmunity. We report two Chinese families with IPEX and the sequencing of the FOXP3 gene.Methods: Two unrelated Chinese cases with IPEX were investigated. In case 1, the proband was a 4 month-y...

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...

hrp0092p1-278 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

A Novel MAP3K1 Gene Mutation (c.556A>G) Associated with 46, XY Complete Gonadal Dysgenesis

Zhu Yilin , Chen Hong , He Minfei , Liang Li , Wang Chunlin

Introduction: Complex and ordered intracellular signal pathways play a significant role in sex determination in mammals, mediating the balance of gonadal development. A major pathway involved in the regulation of the male development is mitogen-activated protein kinase (MAPK) signaling pathway. To date, mutations of MAP3K1 gene have been found to account for approximately 15%-20% of 46, XY gonadal dysgenesis (46, XY GD)....

hrp0089lb-p15 | Late Breaking P1 | ESPE2018

A Novel Compound Heterozygous Mutation of the CYP17A1 Gene is Associated with Rhabdomyolysis: Demonstration of Combining 17α-hydroxylase/17,20-Lyase Deficiency

Chen Hong , Wang Chunlin , Liang Li , Yan Qingfeng

Objective: To investigate the clinical and molecular characteristics of a girl with 17α hydroxylase/17,20-lyase deficiency, of which, onset was as rhabdomyolysis and hypokalemia. And then we identified the functional consequences of two novel CYP17A1 mutations.Materials and Methods: A 11 years old girl, 46,XX karyotypes, presented with rhabdomyolysis, hypokalemia and hypertension. She had elevated levels of plasma adrenocorticotropic hormone, serum ...

hrp0082p3-d1-880 | Perinatal and Neonatal Endocrinology | ESPE2014

Persistent Hyperinsulinemic Hypoglycemia of an Infancy Carrying abcc8 arg598stop Mutation

Zhu Jianfang , Zhu Weifen , Wang Chunlin , Liang Li

Background: Congenital hyperinsulinism (CHI) is the most important causes of persistent hypoglycemia in infants during the first few days after birth.Objective and hypotheses: We report an 11-day-old female infant admitted with persistent hypoglycemia since 11 h after born.Method: Multiple tests and imageological examinations were used to detect the cause of hypoglycemia. A whole-body PET CT-scan with [⊃F]-L-di...

hrp0092p1-297 | Adrenals and HPA Axis (2) | ESPE2019

A Novel Compound Heterozygous Mutation in the CYP11B2 Gene, Including an Intron 7 Splice Site, is Responsible for Aldosterone Synthase Deficiency Type II

Zhu Jianfang , Chen Hong , Wang Chunlin , Fang Yanlan , Kong Yuanmei , Liang Li

Objective: To investigate the clinical and molecular characteristics of a girl with aldosterone synthase deficiency type II (ASDII). We also identified the consequences of a novel splice site mutation in the CYP11B2 gene.Materials and Methods: A4-month-old girl presented with vomiting, diarrhea, and failure to thrive. Her 17α-OHP, cortisol, renin, and aldosterone were all in the normal range, and the ACTH stimulatio...

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...

hrp0089p1-p237 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Premature Ovarian Insufficiency in Girls Caused by Autosomal Microdeletions: 3 Case Reports

Yuan Ke , He Minfei , Fang Yanlan , Zhu Jianfang , Liang Li , Wang Chunlin

Objectives: Premature ovarian insufficiency (POI) is mostly considered X chromosome abnormalities in child. Few of POI cases are associated with autosomal abnormalities. This study was to identify new genes involved POI in three girls.Methods: Three girls who came to the hospital because of no menstruation were investigated. They were 14, 15, and 14 years old. They did not find any breast tissue in their physical examination. Clinical data, sex hormones,...

hrp0092p2-121 | Fat, Metabolism and Obesity | ESPE2019

A Non-invasive Model for Detection of the Metabolic Syndrome in Children and Adolescents

Lin Hu , Derraik José , Hong Ye , Liang Li , Gong ChunXiu , Luo FeiHong , Liu GeLi , Xiong Feng , Chen ShaoKe , Dong Guanping , Huang Ke , Wang Chunlin , Chen Xuefeng , Yuan Jinna Jinna , Fu Junfen

Objectives: We aimed to develop a non-invasive model for the detection of metabolic syndrome (MetS) in school children and adolescents.Methods: Participants were 7,330 children and adolescents aged 10–18 years attending schools in eight Chinese cities. Participants had anthropometry measured by research nurses and underwent fasting blood tests. MetS was defined as central obesity (waist-to-height ratio ≥0.46 f...

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...