ESPE Abstracts

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: 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...

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-...

Objectives: To present Chung-Jansen Syndrome or CHUJANS by a de novo variant in the pleckstrin homology domain-interacting protein (PHIP) gene and compare the clinical phenotype with previous case reports; ②To provide a novel genetic detection methods with whole-exome sequencing(WES) and whole genome sequencing(WGS) and Sanger sequencing for rare genetic diseases.Patients and methods: Following collecting clinical...

Objective: To report the clinical and gene mutation characteristics of a patient with lysine urinary protein intolerance (LPI) characterized by lupus nephritis, lupus encephalitis and extreme short stature, so as to improve understanding of the clinical characteristics of LPI caused by SLC7A7 gene mutation.Methods: The clinical manifestation, laboratory examination and gene test results of a child with LPI diagnosed and ...

Background: Insulin resistance in obesity and type 2 diabetes is associated with abnormalities in mitochondrial oxidative phosphorylation in skeletal muscle. Whether mitochondrial function changes in hepatocytes with hereditary insulin resistance is not clear. Type A Insulin Resistance Syndrome (TAIRS) is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone ins...

Objective: Thyroxine binding globulin (TBG) is the most important thyroid hormone transporter in humans and is encoded by the SERPINA7 gene located on chromosome Xq22.2. By analyzing the genes of TBG-deficient patients, we aim to find a new molecular basis for the possible etiology of the disease.Design and Methods: 10 groups of subjects were enrolled in the pediatric department of the First Affiliated Hospital of Zhejia...