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 ...

hrp0089fc11.4 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Using Patient Derived Induced Pluripotent Stem Cells to Model Multiple Epiphyseal Dysplasia

Woods Steven , Harley Peter , Soul Jamie , Kamprom Ni , Bates Nicola , Wang Qi , Mortier Geert , Hardingham Tim , Kimber Susan

Multiple epiphyseal dysplasia (MED) is a chondrodysplasia characterised by delayed epiphyseal endochondral ossification, resulting in disproportionate short stature and early onset osteoarthritis. MED can be caused by heterozygous mutations in COMP, MATN3, COL9A1, COL9A2 and COL9A3, or bi-allelic mutations in SLC26A2. Human induced pluripotent stem cells (hiPSCs) are reprogrammed somatic cells which can differentiate to form all body tissues and have excellent potential for ti...

hrp0089p3-p107 | Diabetes & Insulin P3 | ESPE2018

The Value of Continuous Hemodiafiltration in Rescuing Children with Severe Diabetic Ketoacidosis

Chen Lin QI , Zhang Dan Dan , Wu Hai Ying , Chen Ting , Chen Xiu Li , Wang Feng Yun , Xie Rong Rong

Objective: To explore the value of continuous hemodiafiltration in rescuing children with severe diabetic ketoacidosis.Method: Two children with severe diabetic ketoacidosis were studied in regard to clinical manifestation, laboratory examination and treatment and of the relevant literature was reviewed.Result: Case 1 was a girl of 13 years 5 months old, who was diagnosed as ‘Type 1 diabetes mellitus, Diabetic ketoacidosis and...

hrp0086p1-p248 | Diabetes P1 | ESPE2016

GCK Mutations in Chinese MODY2 Patients: A Family Pedigree Report and Review of Chinese Literature

Ping Xiao Yu , Xu Xiao Hua , Lan Fang Yan , Qiong Jiang Li , Chen Chun , Liang Li , Lin Wang Chun

Background: Maturity-onset diabetes of the young, type 2 (MODY2), caused by mutations in the glucokinase (GCK) gene is rare in a Chinese population.Objective and hypotheses: We report three Chinese families with MODY2 and sequenced the GCK gene to find novo mutation.Method: Three unrelated Chinese families with MODY2 and pedigrees were investigated. In Family 1, the proband was a 7-year-old girl with impaired fasting glucose (IFG) ...

hrp0097fc9.4 | Diabetes and insulin 2 | ESPE2023

The high proportion of INS-MODY in Chinese children with MODY

Ding Yu , Zhang Qianwen , Li Niu , Chang Guoying , Li Juan , Chen Yao , Yao Ru-en , Yu Tingting , Wang Xiumin

Background: The incidence rate of maturity onset diabetes of the young (MODY) and the proportion of different types of MODY will be different in different countries and races. GCK, HNF1A, and HNF4A are the three most common types of MODY, but the occurrence of other rare MODY subtypes in Chinese children is unknown. Therefore, studying the case group of MODY in Chinese children can help deepen understanding of MODY, early identification, and precise treatment....

hrp0097p1-134 | Multisystem Endocrine Disorders | ESPE2023

Molecular and Phenotypic Expansion of Bardet-biedl Syndrome in Chinese Patients

Gao Shiyang , Zhang Qianwen , Feng Biyun , Gu Shili , Yao Ru-en , Yu Tingting , Ding Yu , Wang Xiumin

Background: Bardet Biedl syndrome(BBS) is a type of non-motile ciliopathy primarily characterized by retinal dystrophy, obesity, polydactyly, cognitive impairment, urogenital anomalies and renal abnormalities. To date, 26 genes have been reported to be associated with BBS: BBS1-BBS21, IFT74, SCLT1, SCAPER and NPHP1. BBS is genetically heterogeneous with significant clinical overlap with other ciliopathies, further c...

hrp0097p1-553 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

A 12-month, open-label, single-arm, phase 3 trial of the efficacy and safety of triptorelin 3-month formulation in Chinese children with central precocious puberty (CPP)

Luo Xiaoping , Zhang Cai , Yang Yu , Xu Xu , Cheng Xinran , Wei Haiyan , Wang Lanying , Huang Frank , Cabri Patrick

Background: CPP is commonly treated with triptorelin, a gonadotropin-releasing hormone (GnRH) analogue. It is available as 1-month and 3-month prolonged-release (PR) formulations, but only the former is approved for CPP in China. Overseas studies have proved the efficacy and safety of triptorelin 3-month PR formulation; this study evaluated efficacy and safety in Chinese children with CPP.Methods: In this 12-month, open-...

hrp0098p2-1 | Adrenals and HPA Axis | ESPE2024

Compromised linear growth and Final adult height in children with classic CAH 21OHD

Huang Mengtian , Ma Huamei , Du Minlian , Chen Hongshan , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song , Zheng Rujiang , Wang Bing

Objective: To summarize the prevalence of compromised linear growth in 21OHD and its final adult height (FAH).Methods: Clinical data of children with CAH 21OHD from pediatric endocrinology clinics at the First Affiliated Hospital of Sun Yat-Sen University from January 1990 to February 2023 were included. The prevalence and types of compromised linear growth in 21OHD and related factors were discussed. FAH and its related...

hrp0095fc11.4 | Late Breaking | ESPE2022

CRN04777, an oral, nonpeptide selective SST5 receptor agonist, dose-dependently suppresses both fasting and stimulated insulin secretion: results from a first in human study

Ferrara-Cook Christine , Luo Rosa , De la Torre Eduardo , Wang Yang , Betz Stephen , Lagast Hjalmar , Struthers Scott , Hovelmann Ultike , Heise Tim , Krasner Alan

Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in neonates, infants, and children, and is caused by genetic mutations in pancreatic beta-cells. Current therapies are burdensome, have limited efficacy, and are associated with significant morbidity. CRN04777 is a potent, orally-bioavailable, selective SST5 agonist that suppresses insulin secretion in the terminal steps of the insulin secretion pathway and could be useful for patients with con...

hrp0095p2-191 | Growth and Syndromes | ESPE2022

A case report of gonadal Y-chromosome mosaicism 45, X Turner syndrome complicated by HCG-secreting gonadoblastoma

Zheng Rujiang , Ma Huamei , Liu Juncheng , Chen Huadong , Liang Jianbo , Chen Hongshan , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song , Wang Bing , Du Minlian

Objective: We report a case of a 5y3m patient who complained of breast development with "45, X Turner syndrome (TS) and HCG-secreting gonadoblastoma (Gb)" with Y chromosome mosaicism. Aim to understand the diagnosis of TS and improve the diagnosis and treatment of HCG-secreting tumors.Methods: The data of clinical diagnosis and treatment of this patient were summarized, and the literatures were reviewed.<p ...