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...

hrp0092rfc4.5 | Fat Metabolism and Obesity Session | ESPE2019

GDF5 Increased White Adipose Tissue Thermogenesis Through p38 MAPK Signaling Pathway in Fatty Acid-binding Protein 4-GDF5 Transgenic Mice

LUO Feihong , ZHANG Wenting , PEI Zhou , WU Xiaohui

Growth differentiation factor 5 (GDF5) was reported to regulate brown adipogenesis, however, its effects on insulin sensitivity, full metabolic syndrome spectrum and the thermogenesis in subcutaneous white adipose tissue (sWAT) haven't been elucidated yet. We thus generated fatty acid-binding protein 4 (Fabp4)-GDF5 transgenic mice and showed that GDF5 transgenic mice developed a relative lean phenotype on a high-fat diet (HFD) and showed increased insulin sensitivity. Over...

hrp0092p3-24 | Adrenals and HPA Axis | ESPE2019

Clinical Characteristics and Genetic Analysis in one Patient with Congenital Lipoid Adrenal Hyperplasia

Xi Li , Chang Zhuo , Pei Zhou , Li Xiaojing , Luo Feihong

Objective: To explore the clinical and molecular genetic characteristics of congenital lipoid adrenal hyperplasia (CLAH), and to sequence the acute regulatory protein (steroid acute regulatory, StAR) gene of the infant patient and her pedigree.Methods: Physical examination, laboratory tests, and imaging examination of the 1-month- old patient with CLAH were collected. DNA was extracted from blood samples of the patient a...

hrp0092p3-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Chinese Girl Suffered Both Osteogenesis Imperfecta and Mucopolysaccharidosis: Trio WES Could Tell us More

Zheng Zhangqian , Yang Lin , Lu Wei , Luo Feihong

Case: A 7-year-old female revealed short bowed femurs and humeri with old fractures and bowed tibias and fibulas. Her height was 97cm and weight was 11kg. Her younger sister had the same phenotype as same as her mother. The Trio WES test showed that they all inherited from their mother's COL1A2 gene mutation (c.928G>A; p.G328S) and diagnosed Osteogenesis Imperfecta, type IV. Unfortunately, the 7-year-old girl also presents coarse face, short neck, limi...

hrp0089p1-p078 | Diabetes & Insulin P1 | ESPE2018

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

Pei Zhou , Sun Chengjun , Wang Hongsheng , Zhai Xiaowen , 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 after AHSCT.<p class="abstext"...

hrp0089p1-p256 | Thyroid P1 | ESPE2018

Mutation Screening in 60 Chinese Patients with Congenital Hypothyroidism

Zheng Zhangqian , Lu Wei , Wu Jing , Luo Feihong

Objectives: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder in infancy. The aim of this study was to screen for reported gene mutations among CH patients in our hospital and to illustrate a genetic mutation spectrum of CH in China.Methods: We designed a gene panel consisting of more than 20 relevant genes including TSHR and DUOX2. Blood samples were collected from 60 CH patients and their parents in Children’s Hospital ...

hrp0086p1-p377 | Gonads &amp; DSD P1 | ESPE2016

Effect and Safety Aspects of Percutaneous Administration of Dihydrotestosterone in Children with Micropenis with Different Genetic Background

Luo Feihong , Xu Dan , Xi Li , Cheng Ruoqian , Lu Liangsheng

Background: Micropenis may result from different aetiology and therapy data are still scarce.Objective and hypotheses: To investigate the effect and safety of dihydrotestosterone transdermal gel in children with micropenis.Method: Totally 23 agnogenic micropenis children with 46,XY karyotype were recruited to participate a perspective study. SRY, AR and SRD5A2 gene were sequenced. 2.5% DHT gel was applied individually based on the ...

hrp0082p3-d1-821 | Growth | ESPE2014

Study of GH Receptor exon 3 Polymorphism in Children With Prader–Willi Syndrome

Luo Feihong , Lu Wei , Pei Zhou , Zheng Zhangqian

Background: Prader–Willi syndrome (PWS) is a genomic imprinting disorder due to loss of paternally expressed genes in the 15q11–q13 region and characterized by hypotonia, a poor suck, hypogonadism, GH deficiency(GHD), learning and behavioural problems. GH acts as a ligand for the GH receptor (GHR) coded by a gene polymorphism for an exon-s deletion (d3) seen in about 50% of Caucasians and associated with an increased response to GH (GH) therapy.<p class="abstext"...

hrp0084p3-589 | Adrenals | ESPE2015

Deletion Mapping in Xp21 for a Family with Complex Glycerol Kinase Deficiency Using Array-Based Comparative Genomic Hybridisation

Zheng Zhangqian , Luo Feihong , Wu Bingbing , Zhang Miaoying

Aims: Complex glycerol kinase deficiency is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, adrenal hypoplasia congenita, Duchenne muscular dystrophy and intellectual disability. There are no definite dysmorphic features for this syndrome. The diagnosis is based on clinical and laboratory findings. Usually the first and most severe are the signs of adrenal hypoplasia, which, if not cured, may lead to death in a short tim...

hrp0092p2-95 | Diabetes and Insulin | ESPE2019

Diabetes Mellitus, Severe Acanthosis Nigricans and Short Stature: a Rare Association in Chinese Children

Zhang Miaoying , Pei Zhou , Xi Li , Zhao Zhuhui , Li Xiaojing , Wu Bingbing , Luo Feihong

Objectives: To report a case of concomitance of diabetes mellitus, severe acanthosis nigricans, short stature in a 6-year boy.Methods: Retrospective review of medical records of a patient with diabetes, acanthosis nigricans and short stature followed at the Departments of Endocrinology and Metabolism, Children's Hospital of Fudan University. This rare case was undergoing whole exome sequencing....