hrp0092p3-158 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

A Novel Variant of KAT6B Caused Say-Barber-Biesecker-Young-Simpson Syndrome

Weng Ying , Luo Xiaoping

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) is a rare and clinical well-described disease caused by de novo heterozygous mutations in KAT6B gene. Genitopatellar syndrome (GS) is also caused by the mutations of gene KAT6B and shares some common clinical symptoms with SBBYSS. The phenotypic spectrum caused by KAT6B is very broad that some patients cannot be classified as SBBYSS or GS. Herein, we report one de novo heterozygous KAT6B truncating variants c.5124delC (p.L17...

hrp0092p2-54 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Crouzon Syndrome: A rare case report of a 2-month old boy with Micrognathia and Proptosis

Zhang Cai , Luo Xiaoping , Hou Ling

Objective: To diagnose a 2-month old boy with micrognathia and proptosis.Method: We summarized the clinical manifestations of the patient. Blood tests and imaging examinations were performed. DNA was isolated from peripheral blood cells. Whole exosome sequencing (WES) was conducted. Copy number variation (CNV) and loss of heterozygosity (LOH) was analyzed by Affymetrix CytoScan.Result</stro...

hrp0089p3-p262 | Growth &amp; Syndromes P3 | ESPE2018

Deletion of 12q12 Increases the Risk of Growth Retardation and Intellectual Disability

Weng Ying , Luo Xiaoping , Hou Ling

Single-nucleotide polymorphism (SNP) arrays have been widely used to identify novel genomic imbalances. Many of these genomic imbalances have been confirmed to interact with developmental delays, intellectual disabilities and congenital defects. Here, we identified a Chinese girl with a 3.18 Mb deletion at 12q12 (human genome build 19: 43,418,911–46,601,627). Deletions at 12q12 are extremely rare chromosomal imbalances; only five cases involving a deletion of this type ha...

hrp0089p3-p216 | GH &amp; IGFs P3 | ESPE2018

Efficacy and Safety of Recombinant Human GH in Treating Chinese Children with Idiopathic Short Stature

Ying Yanqin , Hou Ling , Yan Liang , Wu Wei , Luo Xiaoping

This study aims to investigate the efficacy and safety of recombinant human GH (rhGH) in the treatment of idiopathic short stature (ISS).Methods: The data of 200 ISS children, who were treated with rhGH from January 2008 to December 2016, were collected and retrospectively analyzed. The data of height, bone age, blood glucose, insulin, thyroid function and IGF-1 were collected, and annual growth rate (AGR), height standard deviation score (HtSDS) and rel...

hrp0089p3-p217 | GH &amp; IGFs P3 | ESPE2018

Comparison the Recombinant Human GH (rhGH) Treatment in Children with Idiopathic Short Stature (ISS) and GH Deficiency (GHD)

Ying Yanqin , Hou Ling , Liang Yan , Wu Wei , Luo Xiaoping

Background: The efficacy and safety of rhGH treatment on ISS and GHD were not reported in Chinese children. In this study, we aimed to compare the efficacy and safety of rhGH therapy in ISS and GHD.Methods: The clinical data in children with ISS and GHD who were treated with rhGH for more than one year from 2005 to 2016 were retrospectively analyzed. Growth velocity (GV), HtSDS, IGF1 SDS, BMI and the incidence of fasting hyperglycemia, fasting hyperinsul...

hrp0095rfc9.4 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Association of Birth Size, Dehydroepiandrosterone Sulfate and Cardiometabolic Risk Factors in Idiopathic Central Precocious Puberty Girls

Zhang Guijiao , Yu Huan , Yu Shengxu , Luo Xiaoping , Wu Wei

Background: Early timing of puberty is associated with worse cardiometabolic health in adulthood. Furthermore, birth weight (BW) is recognized to have implications for pubertal development and cardiometabolic risk factors. The study aimed to examine the independent association between birth size, dehydroepiandrosterone sulfate (DHEAS) and cardiometabolic risk factors in idiopathic central precocious puberty (ICPP) girls.Methods:<...

hrp0092rfc1.5 | Diabetes and Insulin Session 1 | ESPE2019

Decreased Circulating Levels of MOTS-c in Individuals with Newly Diagnosed Type 1 Diabetes Children

Du Caiqi , Zhang Cai , Liang Yan , Wu Wei , Hou Ling , Luo Xiaoping

Background and Aims: A novel bioactive peptide, mitochondrial-derived peptide (MOTS-c), has recently attracted interests as a potential prevention or therapeutic option for obesity and type 2 diabetes mellitus in mice. MOTS-c profiles have not yet been reported in type 1 diabetes (T1DM). We aimed to determine circulating MOTS-c levels in T1DM and explore the association between MOTS-c levels and various metabolic parameters.Metho...

hrp0092p2-246 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Comparison of Growth Status, Level of Blood Glucose and Lipid Metabolism in SGA and AGA Girls with Central Precocious Puberty

Yang Xi , Yu Xiao , Zhao Yue , Luo Xiaoping , Liang Yan , Wu Wei , Ying Yanqin , Hou Ling

Background: Several studies have shown that born small for gestational age (SGA) children have earlier precocious puberty, progress faster, and are less likely to gain target height in adults than children born appropriate for gestational age (AGA). Moreover, SGA children are more prone to metabolic disorders - obesity, diabetes and cardiovascular disease.Objective: To compare the physical development status, serum lipid...

hrp0089p1-p101 | Fat, Metabolism and Obesity P1 | ESPE2018

Circulating Mots-C Levels are Decreased in Obese Male Children and Adolescents and Associated with Insulin Resistance

Du Caiqi , Zhang Cai , Wu Wei , Liang Yan , Hou Ling , Wang Anru , Ning Qin , Luo Xiaoping

Background and aims: A novel bioactive peptide, mitochondrial-derived peptide (MOTS-c), has recently attracted attention as a potential prevention or therapeutic option for obesity and type 2 diabetes mellitus (T2DM). MOTS-c profiles have not yet been reported in human obesity and T2DM. We aimed to determine circulating MOTS-c levels in obesity and explore the association between MOTS-c levels and various metabolic parameters. Methods: In this case-control study, 40 obese chil...

hrp0082lbp-d3-1010 | (1) | ESPE2014

Effect of Triptorelin 3.75 mg Subcutaneously Injection Every 6 Weeks on Adult Height in Girls with Idiopathic Central Precocious Puberty

Liang Yan , Wei Hong , Li Jie , Hou Ling , Zhang Jianling , Wu Wei , Ying Yanqin , Luo Xiaoping

Objective and hypotheses: To evaluate the long-term efficacy of triptorelin 3.75 mg subcutaneously injection every 6 weeks on final height in girls with ICPP.Method: Forty females with ICPP received triptorelin 3.75 mg every 6 weeks subcutaneously injection and reached FAH were collected. These patients were divided into two groups. Group A: GnRHa alone, n=17; group B: triptorelin+rhGH, n=23. During the treatment, height, weight, annual...