ESPE Abstracts

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....

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...

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, Children’s Hospital of Fudan University. This rare case was undergoing whole exome sequencing.Results: This girl 2 year w...

Objective and hypotheses: To investigate the frequency distribution of exon 3 deleted (d3-GHR) genetic polymorphism of GH receptor (GHR) in GH deficient (GHD) Chinese children and to explore the correlation between the growth promoting effects of recombinant human GH (rhGH) and exon 3 genetic polymorphism of GHR in GHD children.Method: 111 GHD (excluded small for gestational age) children were treated with rhGH (0.20 mg/kg per week) for 6 months. The bod...