hrp0086p2-p271 | Diabetes P2 | ESPE2016

Abnormal Glucose Level in Patients with Thalassemia Major

Lao Wenqin , Liang Liyang , Ou Hui , Meng Zhe , Zhang Lina

Background: Abnormalities in glucose homeostasis are fairly common complications in thalassemia major (TM) patients. This study aimed at determining the incidence of diabetes mellitus (DM) and studying the potential factors responsible for secondary DM of TM patients.Objective and hypotheses: A total of 54 (33 male) transfusion-dependent TM patients were in the ‘TM group ’; 25 age- and gender-matched healthy children were recruited as the &#145...

hrp0086p2-p319 | Diabetes P2 | ESPE2016

The Relationship among Cardiac T2*, Liver T2* and Abnormal Glucose in Patients with Thalassemia Major

Lao Wenqin , Lliang Liyang , Meng Zhe , Ou Hui , Liu Zulin

Background: Abnormalities in glucose homeostasis are fairly common complications in thalassemia major (TM) patients. Previous studies had shown associations between some endocrinopathies and iron overload of the myocardium, liver as assessed by MRI techniques. This study aimed at determining the relationship among cardiac T2*, liver T2* and abnormal glucose in TM patients.Objective and hypotheses: A total of 34 (27 male) transfusion-dependent TM patients...

hrp0084fc10.1 | Perinatal Endocrinology | ESPE2015

Effect of Sonic Hedgehog Signalling on Regulation the Expression of 11β-HSD2 in the Placenta

Zou Chao Chun , Wu Xiao Hui , Xiong Wen-Yi

Objective: Excessive exposure to glucocorticoids (GCs) during gestation period not only causes fetal growth retardation but also increases the risk of adult metabolic diseases. 11 Beta-hydroxysteroid dehydrogenase (11β-HSD2) is a kind of glucocorticoid metabolic enzymes, which plays a role to the placental GCs barrier during gestation period. The aim of this study is to investigate the effect and mechanism of sonic hedgehog (Shh) signalling on regulation the expression of...

hrp0084p3-593 | Adrenals | ESPE2015

CYP21A2 Gene Mutations Analysis in 21 Chinese Patients with Salt-Wasting form of Congenital Adrenal Hyperplasia

Yao Hui , Yang Luhong , Huang Xiaoli , Chen Xiaohong

Background: Studies about the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) in Chinese children are less.Objective and hypotheses: Study the genotypes of Chinese probands with salt-wasting form of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and performed pedigree-based linkage analysis.Method: We have performed genetic-testing (Method...

hrp0089p3-p263 | Growth & Syndromes P3 | ESPE2018

A Patient with Turner Syndrome (45X/46XX) and Congenital Adrenal Hyperplasia

Wang Yirou , Ding Yu , Chang Guoying , Chen Yao , Shen Yiping , Wang Xiumin , Wang Jian

An association between Turner syndrome (TS) and Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency is rare. TS is caused by partial or complete loss of the second sexual chromosome which leads to genital system malformation and infertility. 21-hydroxylase deficiency is a well-known cause of disorder of sexual development in genotypic female neonates.The aim of our study is to report this patient and stress this rare possibility. A 8-month-old patient sufferi...

hrp0092p1-186 | Diabetes and Insulin (1) | ESPE2019

Efficacy of Autologous Hematopoietic Stem Cell Transplantation in the Treatment of Childhood Type 1 Diabetes

Pei Zhou , Wang Hongsheng , Luo Feihong

Objective: To observe and analyze the efficacy and safety of autologous stem cell transplantation (AHSCT) in children with type 1 diabetes.Methods: Twelve children were enrolled in our study who were newly diagnosed as type 1 diabetes in Children's Hospital of Fudan University from Sep. 2009 to Dec. 2011. Changes in the exogenous insulin requirement were observed and HbA1C and C peptide level were measured before and...

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...

hrp0082p2-d3-476 | Hypoglycaemia | ESPE2014

Glucagon Secretion in Response to Hypoglycemia in Patients with Congenital Hyperinsulinism

Wang Yi , Gong Chunxiu , Su Chang

Background: Hypoglycemia triggers the secretion of counter-regulatory hormones such as cortisol, GH, and glucagon, all of which are protective mechanisms to restore euglycemia. It has been suggested that CHI patients have abnormal glucagon secretion during hypoglycemia, but the data is limited.Objective and hypotheses: To investigate the secretion of counter-regulatory hormones including glucagon during hypoglycemia. It’s supposed that these hormone...

hrp0094p2-177 | Fat, metabolism and obesity | ESPE2021

A novel mitochondrial tRNAThr 15894G>A mutation is potentially risk factor in a Chinese family with obesity

Wang Jinling , Ji Yanchun , Fu Junfen ,

A Chinese family of Han with symptoms of matrilineally-inherited obesity was assessed and its clinical, genetic, and molecular profiling was conducted. Obesity was observed in matrilineal relatives (3 out of 14) of a single generation (of 3 alive generations) of this family. On pedigree analysis and sequencing of their mitochondrial DNA, a novel homoplasmic mutation of the mitochondrial tRNAThr gene (15894G>A) was identified in these individuals. This mutation c...

hrp0094p2-178 | Fat, metabolism and obesity | ESPE2021

Obesity is potentially associated with a novel mitochondrial tRNAGly 10029A>G mutation in a Chinese family

Wang Jinling , Ji Yanchun , Fu Junfen

In this study, we conducted a clinical, genetic, and molecular profiling of a Han Chinese family with evident of matrilineally-inherited obesity. Obesity was evident in 2/6 matrilineal relatives in a single generation of this family (of 3 available generations). When the mitochondrial DNA of these individuals was sequences and a pedigree analysis was performed, we were able to identify a novel homoplasmic mutation of the mitochondrial tRNAGly gene (10029A>G) in t...