hrp0082p1-d2-155 | Growth (1) | ESPE2014

Clinical Characteristics and Imprinting Analysis of Chinese Silver Russell Syndrome

Wu Di , Gong Chunxiu , Zhao Yang

Background: Silver Russell syndrome (SRS) is an imprinting defect disease.Objective: To study clinical characteristics and imprinting defects in Chinese children with SRS.Methods: Forty-nine SRS cases were studied retrospectively. Out of these 49 cases, 36 were available to be detected chromosome 11p15 imprinting defects and 21 cases were detected uniparental disomy of maternal chromosome 7 (UPD(7) mat).Resul...

hrp0084p3-792 | DSD | ESPE2015

Physical Assessment and Growth Curve of 46, XY Disorders of Sex Development Children Who Aged 0–16-Years-Old

Wu Di , Gong Chunxiu , Chen Hui

Background: The growth pattern of normal children was inappropriately used to evaluate those who with DSD.Objective: To understand growth and development of the 46, XY disorders of sex development (DSD) children, drawing height, weight and BMI curve of children with 46, XY DSD at the age of 0–16.Method: The registration database was used in this study. Non- CAH 0-16 years old 46, XY DSDs were collected. Growth curves were fitt...

hrp0092p3-154 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

NSD2 Mutation in a Family with a New Intellectual Disability and Short Stature Syndrome: a 7.5 Years Follow-Up

Hu Xuyun , WU Di , Li Yuchuan , Gong Chunxiu , Shen Yiping

Wolf-Hirschhorn syndrome is a genomic disorder caused by 4p16.3 deletion with facial dysmorphology, growth retardation, developmental/intellectual delay and seizures. After 165 kb critical region encompassing NSD2 was identified, most recently, three NSD2 loss of function variants was uncovered in patients with overlapping phenotype with Wolf-Hirschhorn syndrome. In our study, a NSD2 variant, c.1577dupG (p.Asn527fs*14) was identified in two patie...

hrp0086p1-p30 | Adrenal P1 | ESPE2016

Reference Intervals for the Steroid Hormones of 6 to 14 year Old Normal Male Children with LC-MS Method

Cao Bingyan , Gong Chunxiu , Guo Yongli , Wu Di

Objective and hypotheses: The purpose of this research is to establish reference intervals for the steroid hormones of 6 to14 year-old normal male children using LC-MS method; study the variation pattern of steroid hormones in terms of different ages and Tanner stages of puberty.Method: A total of 1175 male children from 6 to 14 years old from Shunyi District, Beijing, have participated in this research, with 820 children determined as normal-weight. Pre...

hrp0086p2-p712 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Clinical Assessment of Hypercalciuria and Hypomagnesemia in Patients with Bartter Syndrome and Gitelman Syndrome

Li Wenjing , Gong Chunxiu , Su Chang , Cao Bingyan , Wu Di

Background: Bartter syndrome (BS) and Gitelman syndrome (GS) have similar clinical manifestations. It’s hard to be distinguished by the symptoms and laboratory, even though the genetic analysis cannot identify them precisely. The precise diagnoses associate with the right treatment and prognosis. Hypercalciuria usually involved with neonate type Bartter syndrome, and hypomagnesemia with Gitelman syndrome.Objective a...

hrp0086p1-p827 | Syndromes: Mechanisms and Management P1 | ESPE2016

OSBPL5 Methylation Abnormalities may be Pathogenic in Silver Russell Syndrome Through Genomic Methylation Analysis

Wu Di , Gong Chunxiu , Su Chang , Cao Bingyan

Background: SRS is a typical epigenetic disease. Approximately 40% of patients can not be detected genetic and epigenetic disturbances.Objective and hypotheses: To analysis whether there is unknown genes or imprinted genes associated with pathogenicity of SRS and to detect the fine mapping SRS hypomethylation position through the Illumina Methylation 450K chip to detect genome-wide methylation differences.Method: To detect genome-w...

hrp0084p2-524 | Puberty | ESPE2015

Pulsatile GnRH is Superior to hCG in Therapeutic Efficacy in Adolescent Boys with Hypogonadotropic Hypogonadodism

Gong Chunxiu , Liu Ying , Qin Miao , Wu Di , Wang Xiaoling

Background: We investigate the efficacy and safety of two different treatments which have not been evaluated in peri-puberty boys with HH.Objective and hypotheses: To assess the effectiveness and safety of pulsatile GnRH or hCG treatment in adolescent boys with hypogonadotropic hypogonadodism.Method: 12 patients received 8–10 μg of GnRH, subcutaneously injected every 90 min using a pump. Another 22 patients received hCG, ...

hrp0084p3-1255 | Programming & Misc. | ESPE2015

Analysis of Gene Methylation Difference and Evaluation the Effect of GH in Silver–Russell Syndrome

Wu Di , Gong Chunxiu , Zhao Yang , Su Chang , Cao Bingyan

Background: Nearly half of SRS epigenetic etiology is unknown. Effect of GH in SRS is not exact.Objective: To determine novel gene or imprinted gene associated with pathogenicity of Silver–Russell syndrome (SRS) through detection genome-wide methylation differences. To observe GH efficacy in SRS and the relationship between GH and epigenetic changes.Method: To detect genome-wide methylation site through the Illumina 450K methy...

hrp0092p1-316 | Diabetes and Insulin (2) | ESPE2019

An Evaluation of the Accuracy of a Flash Glucose Monitoring System in Children with Diabetes in Comparison with Venous Blood Glucose

Cao Bingyan , Wang Rui , Gong Chunxiu , Wu Di , Su Chang , Chen Jiajia , Yi Yajun , Liu Min , Liang Xuejun , Li Wenjing

Aims: To evaluate the performance of a factory-calibrated flash glucose monitoring system in children with diabetes compared to venous blood glucose (BG).Methods: A total of 13 hospitalized participants newly diagnosed with type 1 diabetes, aged 1~14 years old, were involved in the study. Sensor glucose measurements on days 2, 3, 6, 7, 12 and 13 of wear were compared with venous BG. During these days, the venous BG ...

hrp0089p3-p229 | Growth & Syndromes P3 | ESPE2018

A Novel Heterozygous Pathogenic Variant in PORCN Gene Causing Focal Dermal Hypoplasia with Short Stature: Case Report and Literature Review

Wu Di , Hu Xuyun , Li Xiaoqiao , Wei Liya , Su Chang , Chen Jiajia , Qin Miao , Gong Chunxiu , Shen Yiping

Objective: To explore the clinical features and the genetic cause of a multiple malformation patient with short stature.Methods: The clinical data was collected in Beijing Children’s Hospital in November 2017. The disease-causing variant was identified using exome sequencing and confirmed with Sanger sequencing. Related literature was searched from Wanfang and Pubmed databases using the key word of ‘PORCN gene’ to identify the clinical fea...