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. ItÂ’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...

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...

hrp0092p2-177 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Five Novel Variants of KMT2D/KDM6A Found in Seven Chinese Patients with Kabuki syndrome and a Literature Review of 39 Patients Reported in China

Chen Ruimin , Gong Chunxiu , Shangguan Huakun , Su Chang , Ouyang Qian , Cao Bingyan , Wang Jian

Objective: Report 5 new variants of 7 KMT2D/KDM6A and summarize the clinical manifestations and the mutational spectrum of Kabuki syndrome (KS) by analyzing the reported Chinese cases.Methods: Blood samples were collected for whole-exome sequencing (WES) for 7 patients and their parents if available. Phenotypic and genotypic spectra of 39 previously published unrelated Chinese KS patients were summarized.<p ...

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 ...

hrp0089lb-p20 | Late Breaking P1 | ESPE2018

The Efficacy and Safety of Octreotide Treatment for Diazoxide-Unresponsive Congenital Hyperinsulinism in China

Cao Bingyan , Gong Chunxiu , Wu Di , Liang Xuejun , Su Chang , Liu Min , Liu Wenjing , Chen Jiajia , Li Xiaoqiao

Backgrounds: The treatment of diazoxide-unresponsive congenital hyperinsulinism (CHI) is a big challenge in clinical practice. Octreotide is an off-lable medicine for CHI but widely used nowadays. However, the efficacy and adverse effects have been reported varied in centers.Objective: To evaluate the efficacy and safety of the subcutaneous octreotide injection for diazoxide-unresponsive CHI in China.Subjects and methods: Diazoxide...

hrp0082p3-d1-878 | Perinatal and Neonatal Endocrinology | ESPE2014

Clinical and Genetic Analysis of 95 Cases of Congenital Hyperinsulinism

Huang Shuyue , Gong Chunxiu , Su Chang , Qi Zhan , Wu Di , Cao Bingyan , Gu Yi , Li Wenjing , Liu Min , Liang Xuejun

Background: We want to know the clinical presentation and genetic mutation of congenital hyperinsulinism (CHI) patients in our country.Objective and hypotheses: To investigate the clinical outcomes and gene mutations related to CHI in our patients.Method: We studied the therapeutic outcomes of 95 cases of CHI and analyzed the associations between gene mutations and clinical features in 55 cases.Results: Among...

hrp0084p2-248 | Diabetes | ESPE2015

Genetic Analysis and Follow-Up of 23 Neonatal Diabetes Mellitus Patients in China

Bingyan Cao , Chunxiu Gong , Di Wu , Chaoxia Lu , Fang Liu , Xiaojing Liu , Ying-xian Zhang , Yi Gu , Zhan Qi , Xiaoqiao Li , Min Liu , Wenjing Li , Chang Su , Xuejun Liang , Mei Feng

Objective: To study the clinical features and gene mutations of neonatal diabetes mellitus (NDM) in Chinese patients.Methods: Patients with clinically diagnosed NDM were subjected to genetic screening by targeted gene capture of the genes associated with glucose metabolism, and followed up.Results: Of the 23 cases of NDM studied, 16 (69.6%) were permanent neonatal diabetes mellitus (PNDM), 6 (26.1%) were transient neonatal diabetes...