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...

hrp0086p1-p377 | Gonads & 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 ...

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...

hrp0084p3-1139 | Puberty | ESPE2015

Multicentre Study of Early Screening and Prevention of Prader–Willi Syndrome

Lu Wei , Xi Li , Cheng Ruo-Qian , Li Xiao-Jing , Zhang Miao-Ying , Zheng Zhang-Qian , Ye Rong , Zhao Zhu-Hui , Shen Shui-Xian , Luo Fei-Hong

Background: The current diagnostic criteria for Prader–Willi syndrome (PWS) although widely accepted, is challenging to be implemented in Chinese population.Objective and hypotheses: The present study collected PWS cases from 12 centres across China. By analysing the clinical manifestation during early infancy, we aimed to provide data for clinical characteristics, screening strategy and effect of GH treatment in Chinese PWS patients.<p class="a...