hrp0092p2-27 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

The First Case Report of SEMD-JL1 in China

Huang Ke , Zhang Jianwei , Dong Guanpin

Background: Spondyloepimetaphyseal dysplasia with joint laxity type 1(SEMD-JL1) is a rare entity with a recessive inheritance. It is one of the genetic skeletal disorders (GSD) and B3GALT6 loss-of-function mutations were found in individuals with SEMD-JL1 from several families. However, there was no case described in China.Case report: An 8-year-old boy presented to our hospital with short stature, hyperlaxity w...

hrp0086p2-p587 | Perinatal Endocrinology P2 | ESPE2016

Permanent Neonatal Diabetes Mellitus Due to a G32S Heterozygous Mutation in the Insulin Gene

Xu Xiao-qin , Huang Ke , Hong Fang

Background: Permanent neonatal diabetes mellitus (PNDM) is a rare form of monogenic diabetes with onset less than 6 months of age. Together, activating mutations in KCNJ11 and ABCC8 genes, that encode the Kir6.2 andsulfonylurea receptor 1 (SUR1) subunits, respectively, account for nearly 50% of PNDM cases.Case report: We present a case reported a child diagnosed with PNDM resulting from a new mutation in the insulin (INS) gene, leading to severe hypergly...

hrp0092rfc4.1 | Fat Metabolism and Obesity Session | ESPE2019

Expression of miRNAs in Circulating Exosomes Derived from Patients with NAFLD

zhang jianwei , hu lin , huang ke , fu junfen

Nonalcoholic fatty liver disease (NAFLD),which represents the leading cause of hepatic damage worldwide,is modulated by epigenetic factors, in particular microRNAs (miRNAs), which control at post-transcriptional level many complementary target mRNA. However, the evidence for this is inconsistent. The high stability and expression of circulating exosomal miRNAs may allow their use as candidate biomarkers. For the discovery phase,exosomes were isolated from the serum of patients...

hrp0089p1-p097 | Fat, Metabolism and Obesity P1 | ESPE2018

Circulating Exosomal miRNAs Involved in the Pathogenesis of Children Nonalcoholic Steatohepatitis

Zhou Xuelian , Fu Junfen , Dong Guanping , Huang Ke , Wu Wei

Circulating Exosomal miRNAs involved in the Pathogenesis of Children Nonalcoholic Steatohepatitis.Background: The incidence of children non-alcoholic fatty liver disease (NAFLD) increased rapidly paralleled with the global burden of obesity and diabetes. Although most patients are nonalcoholic fatty liver, there are still a small part of them will progress to nonalcoholic steatohepatitis (NASH), fibrosis and cirrhosis. However, the diagnosis of NASH is b...

hrp0089p3-p406 | Growth & Syndromes P3 | ESPE2018

Two Siblings with Prader-Willi Syndrome Caused by Microdeletion Derived from the Paternal Grandmother

Dong Guanping , Dai Yangli , Huang Ke , Zou Chaochun , Chen Xuefeng

Prader-Willi syndrome (PWS) is a complex neurobehavioral disorder characterized by infantile significant hypotonia and feeding difficulties, followed by morbid obesity secondary to hyperphagia, short stature, functionally deficient gonads, intellectual disabilities and behavioral problems. It is caused by lack of expression of imprinting genes on the paternally inherited chromosome 15q11.2-q13 region. The genetic mechanism responsible for Prader-Willi syndrome can rarely be in...

hrp0086p2-p702 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Clinical Analysis of 24 Cases of Rathke’s Cleft Cysts in Children

Jiang You-jun , Huang Ke , Zou Chao-chun

Background: Rathke’s cleft cysts (RCC) are benign, epithelial lined cystic remnants of the craniopharyngeal duct, and are a common radiological differential for lesions involving the sellar and sellar/suprasellar region. RCC are not very common in children.Objective and hypotheses: To investigate the clinical characteristics of RCC in children.Method: A retrospective analysis was conducted in 24 patients with RCCs diagnosed be...

hrp0086p2-p784 | Pituitary and Neuroendocrinology P2 | ESPE2016

Body Mass Index and Body Fat Composition are Both Related to Central Precocious Puberty in Chinese Girls

Huang Ke , Fu Jun-fen , Dong Guan-ping

Background: Obesity in children and adolescents has become an increasing clinical and public health concern. It was reported that obesity is positively associated with sexual maturation in both boys and girls in China. However, the effect of obesity on pubertal development is incompletely elucidated.Objective and hypotheses: To evaluate the fat mass and body composition by dual-energy x-ray absorptiometry (DEXA) in Chinese precocious puberty girls, and t...

hrp0082p3-d2-887 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Permanent Neonatal Diabetes Mellitus in China

Huang Ke , Liang Li , Fu Junfen , Dong Guanpin

Introduction: Permanent neonatal diabetes mellitus (PNDM) is a rare disease which is defined as the onset of diabetes before the age of 6 months with persistence through life. Patients with KCNJ11 or ABCC8 gene mutations have the opportunity to switch to oral sulfonylurea therapy. There were limited studies about the genetic analysis and long-term follow-up of PNDM.Case report: We report four cases of this kind of PNDM, including their genetic mutations,...

hrp0097p1-354 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

The effect of leuprolide acetate 11.25mg 3-month formulation in children with central precocious puberty: A systematic review and meta-analysis

Wu Wei , Huang Ke , Dong Guanping , Fu Junfen

Background: Central precocious puberty (CPP) results from the premature pubertal activation of the hypothalamic-pituitary-gonadal axis before eight years for girls or nine years for boys. A systematic review and meta-analysis was conducted to evaluate the long-term efficacy and safety of leuprolide acetate (LA) 11.25mg 3-month formulation in children with CPP.Methods: A systematic search in PubMed and Embase was conducte...

hrp0092rfc4.2 | Fat Metabolism and Obesity Session | ESPE2019

Circulating Exosomal miRNAs in Children's Nonalcoholic Steatohepatitis and the Correlation with Serum Transaminase and Uric Acid

Zhou Xuelian , Huang Ke , Ni Yan , Yuan Jinna , Liang Xinyi , Lin Hu , Dong Guanping , Fu Junfen

Background: The incidence of non-alcoholic fatty liver disease (NAFLD) in children increased rapidly paralleled with the global burden of obesity and diabetes. Although most patients are nonalcoholic fatty liver (NAFL), once progress to nonalcoholic steatohepatitis (NASH), the risk of liver fibrosis and cirrhosis increase significantly. However, the pathogenesis of NAFLD, especially how NAFL progress to NASH is still unclear. Exosomal miRNAs have attracted att...