ESPE Abstracts

Background: Abnormalities in glucose homeostasis are fairly common complications in thalassemia major (TM) patients. Previous studies had shown associations between some endocrinopathies and iron overload of the myocardium, liver as assessed by MRI techniques. This study aimed at determining the relationship among cardiac T2*, liver T2* and abnormal glucose in TM patients.Objective and hypotheses: A total of 34 (27 male) transfusion-dependent TM patients...

Background: Adrenoleukodystrophy (ALD) is a genetic disease associated with demyelination of the CNS, adrenal insufficiency, and accumulation of very long-chain fatty acids in tissue and body fluids.Objective: To research the clinical features, laboratory tests, imaging examinations and treatment on children who suffer from X-linked ALD. Also aim at revealing the correlation between the severity of disease and level of very long chain fatty acids (VLCFAs...

Background: Because ghrelin is closely linked to insulin resistance and type 2 diabetes mellitus in adults, ghrelin might also participate in the development and progression of pathological changes in insulin resistance in SGA infants.Objective and hypotheses: This study aimed to determine insulin sensitivity index (ISI), variation in ghrelin levels, and their relationship in small for gestational age (SGA) rats.Method: The SGA ani...

Background: Notch1 – Delta-like ligand 4 (Dll4) signaling pathway has a biological effect of negative feedback regulation to VEGF in retinal vascular development process. There are few studies on the inhibition of Notch1-Dll4 signaling pathway in ROP and the regulatory pathway of VEGF.Objective and hypotheses: 67-day-old mice were divided into oxygen-induced retinopathy group and control group. We took ten mice from each group at postnatal day 7 (p7...

Background: We investigate the efficacy and safety of two different treatments which have not been evaluated in peri-puberty boys with HH.Objective and hypotheses: To assess the effectiveness and safety of pulsatile GnRH or hCG treatment in adolescent boys with hypogonadotropic hypogonadodism.Method: 12 patients received 8–10 μg of GnRH, subcutaneously injected every 90 min using a pump. Another 22 patients received hCG, ...

Background: A 8-year-old Chinese girl was referred by the endocrinologist of our hospital because of ambiguous external genitalia.Physical examination revealed breast and axillary hair and pubic hair at Tanner stage 1, There had two mass located within two side of inguinal regions,labia fusion, the size of clitoris was 2.0×1.0 cm, there was a vaginal opening. US images revealed a solid nodile suggestive of testicular tissue located in both inguinal regions. The MRI exam c...

Background: Notch1-Delta-like ligand 4 (Dll4) signalling pathway has a biological effect of negative feedback regulation to VEGF in retinal vascular development process. There are few studies on the inhibition of Notch1-Dll4 signalling pathway in ROP and the regulatory pathway of VEGF.Objective and hypotheses: To investigate the role that Notch1-DLL4 signal pathway played in the oxygen-induced retinal neovascularization of mice by analyzing the expressio...

Objective: To recognize Schimke immune-osseous dysplasia from a case of spinal epiphyseal dysplasia.Method: Summarize the characteristics of one case of Schimke immune-ossesous dysplasia, and increase awareness of this disease.Result: The patient, male, with non-consanguineous parents, was born on May 8, 2012. He was hospitalized in our hospital in January 2020 due to his short stature for more tha...

Key words: Type 1 diabetes mellitus; Intestinal flora; metagenomic sequencing; cytokines; AutoimmunityObjective: This study aims to verify the effect of intestinal microbiota diversity on the disease development of T1DM mice model, and to explore the mechanism of intestinal microbiota in the development of type 1 diabetes mediated by related cytokines.Method: T1DM mouse model was e...

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...