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...

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....

hrp0092p3-197 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Central Precocious Puberty in a boy with Prader-Willi Syndromeduring Growth Hormone Replacement Therapy

LU WEI , Zheng Zhangqian , Ni Jinwen , Li Xiaojing , Xi Li , Luo Feihong

Background: Prader-Willi syndrome is a genetic disorder characterized by obesity, short statue, hypotonia and hypogonadism. Delayed or incomplete puberty are usually found in PWS, whereas central precocious puberty is very rare.Objective: This study aimed to report the case of a boy with PWS who was diagnosed with precocious puberty during growth hormone replacement therapy.Methods...

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...

hrp0097p2-256 | Late Breaking | ESPE2023

Influencing Factors of Growth Hormone Treatment in Short Stature Children Born Small for Gestational Age in China: a single-center, cross-sectional survey

Cheng Ruoqian , Sun Chengjun , Wu Jing , Xu Zhenran , Ni Jinwen , Xi Li , Li Xiaojing , Luo* Feihong

Keywords: growth hormone, small for gestational age, genetic defects; Silver-Russell syndrome; growth hormone deficiencyObjectives: To evaluate the influencing factors of GH treatment in Chinese short stature children born SGA.Methods: This was a single-center, retrospective, cross-sectional survey in China. Of 101 patients were identified born SGA and 66 short stature children bor...

hrp0082p3-d2-823 | Growth (1) | ESPE2014

Correlation Between Initial Treatment Effect of Recombinant Human GH and Exon 3 Polymorphism of GH Receptor in Chinese GH Deficiency Children

Zheng Zhangqian , Cao Linfeng , Pei Zhou , Luo Feihong , Zhi Dijing , Zhao Zhuhui , Ye Rong , Cheng Ruoqian , Li Xiaojing

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...