ESPE Abstracts

Background: Thiamine-responsive megaloblastic anemia syndrome(TRMA) is a rare disease characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss. The disease can be accompanied by attack of stroke, which are rarely reported. To analyze the clinical characteristics of a case of thiamine-responsive megaloblastic anemia with attack of stroke in our hospital and review the related literature of this syndrome in order to improve the dia...

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 ...

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...

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...

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...

Objective: To explore the correlation of sex hormone-binding globulin (SHBG) and Total Testosterone (TT) with the development of Metabolic syndrome (MetS) in obese boys. To explore the relationship between components of MetS and TT levels in boys.Methods: A total of 439 boys aged 6-18 years old from April 2020 to February 2023, include boys who visited the Department of Endocrinology, Genetics and Metabolism in Jiangxi P...

Background: Partial thyroxine-binding globulin deficiency (TBG-PD) is an endocrine defect with a prevalence of 1:4 000 in newborns. Due to the presence of a single TBG gene on the X chromosome.Objective and hypotheses: To investigate the clinical characteristics of twins with thyroxine binding globulin deficiency and to find SERPINA7 gene mutations.Method: Data related to clinical characteristics, serum biochemistry, gene mutations...

Background: Bisphenol A (BPA) is one of high production-volume chemicals and used extensively in consumer products, including food containers and epoxy food-can coatings. The primary source of BPA exposure in adults is via food and beverages, while among infants breast milk and polycarbonate feeding bottles are the predominant source of BPA exposure.Objectives and hypotheses: To estimate the association between serum BPA A and premature thelarche in fema...

Background: Cardiovascular disease is one of the most prominent causes of mortality world widely. A key related factor of atherosclerotic cardiovascular disease is the presence of dyslipidemia. Together with elevated blood pressure, obesity, and diabetes mellitus, dyslipidemia is a component of metabolic syndrome and associated with an increasing incidence of coronary heart disease.Objective and hypotheses: The aim of this study was to investigate the co...

Objective: To report a family with MODY2 associated with GCK gene mutation and improve clinicians' understanding of this gene mutation.Methods: The clinical manifestations, laboratory examinations and genetic test results of a MODY2 family diagnosed and treated in our hospital were analyzed retrospectively, and the related literatures were reviewed.Results: The patient is a 6-...