hrp0092p3-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Chinese Girl Suffered Both Osteogenesis Imperfecta and Mucopolysaccharidosis: Trio WES Could Tell us More

Zheng Zhangqian , Yang Lin , Lu Wei , Luo Feihong

Case: A 7-year-old female revealed short bowed femurs and humeri with old fractures and bowed tibias and fibulas. Her height was 97cm and weight was 11kg. Her younger sister had the same phenotype as same as her mother. The Trio WES test showed that they all inherited from their mother's COL1A2 gene mutation (c.928G>A; p.G328S) and diagnosed Osteogenesis Imperfecta, type IV. Unfortunately, the 7-year-old girl also presents coarse face, short neck, limi...

hrp0089p1-p256 | Thyroid P1 | ESPE2018

Mutation Screening in 60 Chinese Patients with Congenital Hypothyroidism

Zheng Zhangqian , Lu Wei , Wu Jing , Luo Feihong

Objectives: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder in infancy. The aim of this study was to screen for reported gene mutations among CH patients in our hospital and to illustrate a genetic mutation spectrum of CH in China.Methods: We designed a gene panel consisting of more than 20 relevant genes including TSHR and DUOX2. Blood samples were collected from 60 CH patients and their parents in Children’s Hospital ...

hrp0082p3-d1-821 | Growth | ESPE2014

Study of GH Receptor exon 3 Polymorphism in Children With Prader–Willi Syndrome

Luo Feihong , Lu Wei , Pei Zhou , Zheng Zhangqian

Background: Prader–Willi syndrome (PWS) is a genomic imprinting disorder due to loss of paternally expressed genes in the 15q11–q13 region and characterized by hypotonia, a poor suck, hypogonadism, GH deficiency(GHD), learning and behavioural problems. GH acts as a ligand for the GH receptor (GHR) coded by a gene polymorphism for an exon-s deletion (d3) seen in about 50% of Caucasians and associated with an increased response to GH (GH) therapy.<p class="abstext"...

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-p258 | Growth &amp; Syndromes P2 | ESPE2018

Clinical and Molecular Analyses of 24 Patients with Beckwith-Wiedemann SYNDROME

Lu Wei , Wu Bingbing , Zhou Wenhao , Zheng Zhangqian , Zhang Miaoying , Cheng Ruoqian , Luo Feihong

Objective: Beckwith-Wiedemann syndrome (BWS) is a genetic disorder that results from abnormal expression of function of imprinting genes. Clinical manifestations vary greatly. To study the molecular genetic mechanism of BWS by Methylation Specific Multiplex Ligation-dependent Probe Amplification (MS-MPLA) and to analyze the relationship between genotype and phenotype, that will be helpful to improve the understanding of this disease.Methods: The copy num...

hrp0092p2-81 | Diabetes and Insulin | ESPE2019

A de novo Pathogenic Heterozygous Mutation of the Insulin Receptor gene in a Patient with type A Insulin Resistance Syndrome

Sun Manqing , Wang Wei , Lu Wenli , Zhang Lidan , Dong Zhiya , Xiao Yuan , Ma Xiaoyu , Ni Jihong , Wang Defen

Background: Defects of the insulin receptor gene (INSR) can cause genetic syndromes associated with a wide diverse range of congenital insulin resistance from milder insulin-resistant diabetes mellitus (Type A insulin resistance syndrome, TAIRS) to leprechaunism (Donahue syndrome). Clinical features in TAIRS vary due to the severity of damage in INSR, precise diagnosis is challenging.Materials and Methods</stron...

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...