hrp0084p3-593 | Adrenals | ESPE2015

CYP21A2 Gene Mutations Analysis in 21 Chinese Patients with Salt-Wasting form of Congenital Adrenal Hyperplasia

Yao Hui , Yang Luhong , Huang Xiaoli , Chen Xiaohong

Background: Studies about the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) in Chinese children are less.Objective and hypotheses: Study the genotypes of Chinese probands with salt-wasting form of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and performed pedigree-based linkage analysis.Method: We have performed genetic-testing (Method...

hrp0095p2-268 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Case Report:Clinical and genetic features of 46, XY DSD caused by a mutation in DHX37 gene

Yang Yu , Huang Hui , Wu Tieniu , Yang Li

The DHX37 gene has been identified to cause 46, XY disorders of sex development (DSD), yet there are no reports in China. Here, we report a Chinese pediatric case of 46, XY DSD identified by Whole-exome sequencing which carried a heterozygous missense mutation c.2020 C > T (P.R674 W) in DHX37 gene (NM _ 032656) inherited from the mother. Gonadal pathology showed that the left gonad was structured with a vas deferens and epididymal duct, and the right gonad had vas deferens,...

hrp0092p2-121 | Fat, Metabolism and Obesity | ESPE2019

A Non-invasive Model for Detection of the Metabolic Syndrome in Children and Adolescents

Lin Hu , Derraik José , Hong Ye , Liang Li , Gong ChunXiu , Luo FeiHong , Liu GeLi , Xiong Feng , Chen ShaoKe , Dong Guanping , Huang Ke , Wang Chunlin , Chen Xuefeng , Yuan Jinna Jinna , Fu Junfen

Objectives: We aimed to develop a non-invasive model for the detection of metabolic syndrome (MetS) in school children and adolescents.Methods: Participants were 7,330 children and adolescents aged 10–18 years attending schools in eight Chinese cities. Participants had anthropometry measured by research nurses and underwent fasting blood tests. MetS was defined as central obesity (waist-to-height ratio ≥0.46 f...

hrp0092fc12.6 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

An Integrated Systems Biology Analysis of the Genome, Epigenome and Transcriptome Identifies a Distinct Pattern of Hypermethylation Associated with Low Childhood Growth

Garner Terence , Sellers Robert , Guo Hui , Whatmore Andrew , Clayton Peter , Stevens Adam , Murray Philip

Background: Current data from genome wide association studies (GWAS) explains 24.6% of the variation in adult height from 3290 single nucleotide polymorphisms (SNPs)1. Data on the genetic control of growth velocity during childhood is more limited and no previous studies have linked childhood growth to changes in the transcriptome (gene expression) or epigenome (DNA methylation). Here we present a systems biology approach to understand mid-child...

hrp0092p1-232 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Two Chinese Children with FBN1-Related Acromelic Dysplasia

Hou Lele , Lin Shaofen , Zhang Lina , Liu Zulin , Ou Hui , Meng Zhe , Liang Liyang

Background and Aims: Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are rare skeletal dysplasia belonging to the group of acromelic dysplasia and are both characterized by severe short stature, short hands and feet, stiff joints, facial anomalies and some radiological manifestations, including delayed bone age, shortened long tubular bones and ovoid vertebral bodies. Patients with GD clinically present the characteristic "happy" facial featur...

hrp0092p2-16 | Adrenals and HPA Axis | ESPE2019

A Case of Infantile Cushing's Syndrome from McCune Albright Syndrome: The Importance of Multiple-Site Sampling for Genetic Testing

Beng Hui Ng Nicholas , Tay Vanerry LQ , Ooi Delicia SQ , Loke Kah Yin

Case Description: We report a case of a 7-month old Vietnamese boy who presented with failure to thrive and a Cushingoid appearance from 1 month old. There was no history of exogenous steroid use. On examination, height and weight were <3rd centile. He was Cushingoid with motor development delay. There were multiple large café-au-lait lesions over the sacral region but no limb asymmetry to suggest fibrous dysplasia.En...

hrp0092p2-68 | Diabetes and Insulin | ESPE2019

Pancreatic β Cell Function and its Relationship with Iron Overload in Patients with β-Thalassemia Major

Zhang Lina , Liang Liyang , Jiang Zhuannan , Meng Zhe , Ou Hui , Liu Zulin , Hou Lele , Haung Siqi

Objective: The functional status and influencing factors of pancreatic beta cells in patients with β-thalassemia major (β-TM) were investigated.Methods: A cross-sectional study was conducted in 88 patients with β-TM, with an average age of 11.3±5.6 years. Thirty-two healthy subjects were selected as the control group. FBG, FINS, HOMA-IRI, HMOA-ISIand HOMA-β FI were calculated between ...

hrp0092p3-89 | Diabetes and Insulin | ESPE2019

A Mitophagic Response to iron Overload-Induced Oxidative Damage Associated with the PINK1/Parkin Pathway in Pancreatic Beta Cells

ZHANG Lina , LIANG Liyang , LIU Zulin , HOU Lele , OU Hui , HUANG Siqi

An increased iron overload led to a disorder in glucose metabolism. However, the mechanism through which iron overload induces beta cell death remains unknown. The present study revealed that ferric ammonium citrate treatment inhibited cell viability in vitro, induced a decline in mitochondrial membrane potential, increased oxidative stress and activated mitophagy. These effects could be alleviated by a reactive oxygen species scavenger. In summary, we demonstrated th...

hrp0089p2-p006 | Adrenals and HPA Axis P2 | ESPE2018

Analysis of Phenotypes and Genotypes in 84 Patients with 21-hydroxylase Deficiency

Hou Lele , Lin Shaofen , Meng Zhe , Ou Hui , Liu Zulin , Zhang Lina , Jiang Zhuannan , Liang Liyang

Background and Aims: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2 gene is the most common form of CAH. This study aims to analyze the phenotype-genotype correlation and the characteristics of gene mutation frequency of 21-OHD patients in China, helping to provide evidence for clinical practice and genetic counseling of 21-OHD patie...

hrp0089p2-p042 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

High Fibroblast Growth Factor (FGF) 23: An Unusual Cause of Severe Osteoporosis in a Patient with Chronic Liver Disease

Ng Nicholas Beng Hui , Lee Yung Seng , Sng Andrew Anjian , Aw Marion Margaret , Loke Kah Yin

Case description: A 14-year old boy with autoimmune hepatitis who was on long term oral steroids for 10 years, presented with acute onset lower back pain without preceding trauma. Lumbar spine radiograph showed severe osteopenia and compression fractures of vertebrae T12 to L1. Bone mineral density T-score at the lumbar region was −4.9. Biochemically, there was hypocalcaemia and severe hypophosphataemia with adjusted calcium 2.03 (2.20–2.65) mmol/l and phosphate 0.8...