ESPE Abstracts

Introduction: Complex and ordered intracellular signal pathways play a significant role in sex determination in mammals, mediating the balance of gonadal development. A major pathway involved in the regulation of the male development is mitogen-activated protein kinase (MAPK) signaling pathway. To date, mutations of MAP3K1 gene have been found to account for approximately 15%-20% of 46, XY gonadal dysgenesis (46, XY GD)....

Objective: To investigate the prevalence of hypogonadism in patients with β-Thalassemia Major (β-TM) and explore the risk factors.Method: 42 β-TM patients (≥= 10 years old) were investigated by questionnaire, physical examination and laboratory examination to evaluate their stages of puberty development and sex hormone level.And then,effects of age, the beginning age of chelation, iron overload, geno...

Objective: To establish INS-1 cell iron overload model, and study the effect on proliferation, insulin-secretion and oxidative stress change.Methods: INS-1 cells were cultured in either normal or high glucose medium. Both groups were treated with different concentrations of (5, 10, 20, 40, 80 μmol/l respectively) of ferric ammonium citrate (FAC). Number and state of the cells were detected by trypan blue staining. Labile iron pool (LIP) were calcula...

This study aims to investigate the efficacy and safety of recombinant human GH (rhGH) in the treatment of idiopathic short stature (ISS).Methods: The data of 200 ISS children, who were treated with rhGH from January 2008 to December 2016, were collected and retrospectively analyzed. The data of height, bone age, blood glucose, insulin, thyroid function and IGF-1 were collected, and annual growth rate (AGR), height standard deviation score (HtSDS) and rel...

Background: The efficacy and safety of rhGH treatment on ISS and GHD were not reported in Chinese children. In this study, we aimed to compare the efficacy and safety of rhGH therapy in ISS and GHD.Methods: The clinical data in children with ISS and GHD who were treated with rhGH for more than one year from 2005 to 2016 were retrospectively analyzed. Growth velocity (GV), HtSDS, IGF1 SDS, BMI and the incidence of fasting hyperglycemia, fasting hyperinsul...

Objective: To investigate the clinical and molecular characteristics of a girl with 17α hydroxylase/17,20-lyase deficiency, of which, onset was as rhabdomyolysis and hypokalemia. And then we identified the functional consequences of two novel CYP17A1 mutations.Materials and Methods: A 11 years old girl, 46,XX karyotypes, presented with rhabdomyolysis, hypokalemia and hypertension. She had elevated levels of plasma adrenocorticotropic hormone, serum ...

Background: Growth failure and abnormal plasma glucose level are common in patients with thalassemia major (TM), which are usually due to iron overload after repeated blood transfusion. Patients after successful bone marrow transplantation (BMT) will be free from further blood transfusion and thus spared from complications of iron overload. This study aimed at determining the incidence of abnormal glucose level in TM patients and studying the height difference between the TM p...

Background: Abnormalities in glucose homeostasis are fairly common complications in thalassemia major (TM) patients. This study aimed at determining the incidence of diabetes mellitus (DM) and studying the potential factors responsible for secondary DM of TM patients.Objective and hypotheses: A total of 54 (33 male) transfusion-dependent TM patients were in the ‘TM group ’; 25 age- and gender-matched healthy children were recruited as the &#145...

Background: Dopa-responsive dystonia is a genetic disease that rarely reported in domestic and foreign. Its clinical characteristics is so complex and diverse that it is easy to lead to misdiagnosis and delayed treatment. However, early diagnosis and timely and appropriate treatment can completely improve symptoms. Fortunately, now we can take advantage of gene sequencing to diagnose this rare disease.Objective and hypotheses: Understand the research pro...

Background: IDF-2007 MS definition (MS-IDF2007) for children and adolescents has been challenged frequently in clinical practice and should be improved further. Therefore, it becomes imminent to explore an accessible and effective tool to screen obese children with the metabolic syndrome components.Objective and hypotheses: To investigate the optimal cut-off values and compare the accuracy for the triglycerides and HDL cholesterol ratio and homeostasis m...