ESPE Abstracts

Background and Aims: A novel bioactive peptide, mitochondrial-derived peptide (MOTS-c), has recently attracted interests as a potential prevention or therapeutic option for obesity and type 2 diabetes mellitus in mice. MOTS-c profiles have not yet been reported in type 1 diabetes (T1DM). We aimed to determine circulating MOTS-c levels in T1DM and explore the association between MOTS-c levels and various metabolic parameters.Metho...

To investigate the effect of metformin on the PERK-eIF2a pathway in PGRN - induced insulin - resistant cell model. METHODS: The 3T3-L1 Insulin-resistance cell model was constructed by dexamethasone and PGRN. Metformin was used to act on the cell model to screen out the optimal concentration group for reducing PGRN,The experiment was divided into the normal control group, dexamethasone group, and PGRN group. 4-PBA and metformin were used to act respectively.Western Blot was use...

Ferritin is a widely used iron storage indicator. At the same time, it is also viewed as an indicator of inflammation. Chronic low-grade inflammation in obese individual, especially in the one with metabolic disorders, related to comorbidities and poor prognosis. Both hyperglycemia and iron overload can induce inflammation and result in vascular endothelial dysfunction. To study the role of ferritin in obese children and its impact on artery and liver, the present study invest...

Background and Aims: Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are rare skeletal dysplasia belonging to the group of acromelic dysplasia and are both characterized by severe short stature, short hands and feet, stiff joints, facial anomalies and some radiological manifestations, including delayed bone age, shortened long tubular bones and ovoid vertebral bodies. Patients with GD clinically present the characteristic "happy" facial featur...

Objective: The functional status and influencing factors of pancreatic beta cells in patients with β-thalassemia major (β-TM) were investigated.Methods: A cross-sectional study was conducted in 88 patients with β-TM, with an average age of 11.3±5.6 years. Thirty-two healthy subjects were selected as the control group. FBG, FINS, HOMA-IRI, HMOA-ISIand HOMA-β FI were calculated between ...

Objectives: To report a case of concomitance of diabetes mellitus, severe acanthosis nigricans, short stature in a 6-year boy.Methods: Retrospective review of medical records of a patient with diabetes, acanthosis nigricans and short stature followed at the Departments of Endocrinology and Metabolism, Children's Hospital of Fudan University. This rare case was undergoing whole exome sequencing....

Objective: We sought to evaluate the role of long-term HRT on the lipid profile and glucose metabolism in girls with TS.Design: A pre-test/post-test observational study.Seting: Pediatric TS clinic in The First Affiated Hospital, Sun Yat-sen University.Patients: 56 girls with TS had accurate maintenance HRT data....

Background: Cantu´ syndrome is rare disease characterized by characterized by congenital hypertrichosis, neonatal macrosomia, cardiomegaly and several other abnormalities. Gain-of-function mutations in either KCNJ8 or ABCC9 have been identified as the causative gene for Cantu´ syndrome. Here we report the first genetically diagnosed Cantu´ syndrome case in China and describe the full clinical features of the case.<p class="...

Background: okur-chung neurodevelopmental syndrome was confirmed to be associated with developmental disorders attributed to germline CSNK2A1 pathogenic missense variants. Only 26 cases and 22 kinds of genotype have been reported in the world so far. All reports highlighted the recognizable facial features of the syndrome as well as frequently occurring clinical features including neurodevelopmental delay, short stature, gastrointestinal, musculoskeletal and i...

Objective: To understand the clinical characteristics, etiological distribution and related metabolic problems of children with premature pubarche.Methods: The clinical data of 55 cases of premature pubarche were summarized. All the children were tested by ACTH stimulation test and GnRHa stimulation test, of which 17 cases were detected by CYP21A2 gene,and 16 cases of Premature Adrenarche (PA) and 14 cases of Isolated Pr...