hrp0086p1-p230 | Diabetes P1 | ESPE2016

Growth and Glucose Metabolism after Allogenic Bone Marrow Transplantation for Thalassemia Major

Lao Wenqin , Liang Liyang , Meng Zhe , Ou Hui , Hou Lele

Background: Growth failure and abnormal plasma glucose level are common in patients with thalassemia major (TM), which are usually due to iron overload after repeated blood transfusion. Patients after successful bone marrow transplantation (BMT) will be free from further blood transfusion and thus spared from complications of iron overload. This study aimed at determining the incidence of abnormal glucose level in TM patients and studying the height difference between the TM p...

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...

hrp0092p1-232 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Two Chinese Children with FBN1-Related Acromelic Dysplasia

Hou Lele , Lin Shaofen , Zhang Lina , Liu Zulin , Ou Hui , Meng Zhe , Liang Liyang

Background and Aims: Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are rare skeletal dysplasia belonging to the group of acromelic dysplasia and are both characterized by severe short stature, short hands and feet, stiff joints, facial anomalies and some radiological manifestations, including delayed bone age, shortened long tubular bones and ovoid vertebral bodies. Patients with GD clinically present the characteristic "happy" facial featur...

hrp0092p2-68 | Diabetes and Insulin | ESPE2019

Pancreatic β Cell Function and its Relationship with Iron Overload in Patients with β-Thalassemia Major

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

Objective: The functional status and influencing factors of pancreatic beta cells in patients with β-thalassemia major (β-TM) were investigated.Methods: A cross-sectional study was conducted in 88 patients with β-TM, with an average age of 11.3±5.6 years. Thirty-two healthy subjects were selected as the control group. FBG, FINS, HOMA-IRI, HMOA-ISIand HOMA-β FI were calculated between ...

hrp0092p3-89 | Diabetes and Insulin | ESPE2019

A Mitophagic Response to iron Overload-Induced Oxidative Damage Associated with the PINK1/Parkin Pathway in Pancreatic Beta Cells

ZHANG Lina , LIANG Liyang , LIU Zulin , HOU Lele , OU Hui , HUANG Siqi

An increased iron overload led to a disorder in glucose metabolism. However, the mechanism through which iron overload induces beta cell death remains unknown. The present study revealed that ferric ammonium citrate treatment inhibited cell viability in vitro, induced a decline in mitochondrial membrane potential, increased oxidative stress and activated mitophagy. These effects could be alleviated by a reactive oxygen species scavenger. In summary, we demonstrated th...

hrp0089p2-p006 | Adrenals and HPA Axis P2 | ESPE2018

Analysis of Phenotypes and Genotypes in 84 Patients with 21-hydroxylase Deficiency

Hou Lele , Lin Shaofen , Meng Zhe , Ou Hui , Liu Zulin , Zhang Lina , Jiang Zhuannan , Liang Liyang

Background and Aims: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2 gene is the most common form of CAH. This study aims to analyze the phenotype-genotype correlation and the characteristics of gene mutation frequency of 21-OHD patients in China, helping to provide evidence for clinical practice and genetic counseling of 21-OHD patie...

hrp0086p2-p409 | Gonads & DSD P2 | ESPE2016

Analysis of Clinical Manifestations and Gene Mutations of 5α-Reductase Type 2 Deficiency in 16 Cases

Hou Lele , Liang Liyang , Meng Zhe , Ou Hui , Zhang Lina , Liu Zulin

Background: 5α-reductase type 2 deficiency is a rare autosomal recessive hereditary disease. SRD5A2 gene defects lead to dysfunction of 5α-reductase type 2, that impair the conversion of testosterone to dihydrotestosterone and cause clinical features.Objective and hypotheses: To analyze the clinical manifestations and gene mutations of 5α-reductase type 2 deficiency in childhood.Method: The clinical features, laborat...

hrp0086p2-p675 | Growth P2 | ESPE2016

The Effects and Safety of Recombinant Human GH (rhGH) Treatment on Growth Hormone Deficiency in Children with Rathke’s Cleft Cyst

Liyang Liang , Zhe Meng , Lina Zhang , Hui OU , Lele Hou , Zulin Liu

Background: Rathke’s cleft cyst (RCC) has been reported rarely in children and adolescents. The occurrence of RCC with hypoplastic anterior pituitary can be explained by their common embryologic origin. However, the effects and sfety of recombinant human GH (rhGH) in GH deficient (GHD) children with RCC has not been previously reported.Objective and hypotheses: To assess the effects and safety of recombinant human GH (rhGH) in GH deficient (GHD) chi...

hrp0086p1-p833 | Syndromes: Mechanisms and Management P1 | ESPE2016

Analysis of Phenotype and HRAS Gene Mutation in a Chinses Girl with Costello Syndrome

Zhang Lina , Liang Liyang , Meng Zhe , Ou Hui , Hou Lele , Liu Zulin

Background: Costello syndrome is a rare congenital disorder with characteristic findings involving multiple organ systems. The Costello Syndrome Family Network estimates that the birth prevalence in the United Kingdom is at least 1/500,000. So far, there has been only one affected individual reported in China.Objective and hypotheses: Diagnose the case of autosomal dominant Costello syndrome by direct squencing of HRAS gene. Analyze the correlation betwe...