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....

hrp0089p2-p063 | Diabetes & Insulin P2 | ESPE2018

Detection of the Pathogenic Genes in the Diagnosis and Treatment of Hyperglycemia Infants and Children

Zhao Zhuhui , Cheng Ruoqian , Xi Li , Li Xiaojing , Zhang Miaoying , Pei Zhou , Sun Chengjun

Objectives: To explore the clinical value of common pathogenic gene detection in the diagnosis and treatment in hyperglycemia infants and children.Subjects and Methods: Subjects were in-patients with hyperglycemia, age of onset before 1 year-old, or insulin antibody negative and with family history of diabetes. Gene sequencing for ABCC8, KCNJ11, INS and GCK were performed and potential mutations were analyzed. The pati...

hrp0089p3-p110 | Diabetes & Insulin P3 | ESPE2018

Diabetes Mellitus, Autoimmune Hemolytic Anemia, Hepatosplenomegaly and Lymphadenopathy: A Rare Association in Chinese Children

Zhang Miaoying , Li Xiaojing , Xi Li , Zhao Zhuhui , Cheng Ruoqian , Wu Bingbing , Luo Feihong

Objectives: To report a case of concomitance of diabetes mellitus, autoimmune hemolytic anemia, hepatosplenomegaly and lymphadenopathy in a 7-year girl.Methods: Retrospective review of medical records of a patient with multiple autoimmune diseases followed at the Departments of Endocrinology and Metabolism, ChildrenÂ’s Hospital of Fudan University. This rare case was undergoing whole exome sequencing.Results: This girl 2 year w...

hrp0089p2-p258 | Growth & Syndromes P2 | ESPE2018

Clinical and Molecular Analyses of 24 Patients with Beckwith-Wiedemann SYNDROME

Lu Wei , Wu Bingbing , Zhou Wenhao , Zheng Zhangqian , Zhang Miaoying , Cheng Ruoqian , Luo Feihong

Objective: Beckwith-Wiedemann syndrome (BWS) is a genetic disorder that results from abnormal expression of function of imprinting genes. Clinical manifestations vary greatly. To study the molecular genetic mechanism of BWS by Methylation Specific Multiplex Ligation-dependent Probe Amplification (MS-MPLA) and to analyze the relationship between genotype and phenotype, that will be helpful to improve the understanding of this disease.Methods: The copy num...