ESPE Abstracts

Background: Type 1 diabetes is characterised by destruction of islet β cell by autoimmune insulitis and islet cell apoptosis. This study analysed the microRNA 125b how to regulate pancreatic β-cells dysfunction, aiming to elucidate the association between miRNA125b and type 1 diabetes.Objective and hypotheses: Recent study indicate miRNA may have role in the development of type 1 diabetes, so this study analyse the miRNA expression profile in t...

Background: BMI has a negative impact on spontaneous and stimulated GH secretion in children, but the impact of BMI and free fatty acids (FFA) on peak stimulated GH values in Han children with short stature is unknown.Objective and hypotheses: To assess the effects of BMI and FFA on peak GH values in Han children with short stature.Method: This was a retrospective, cross-sectional study. We used arginine–clonidine test to anal...

Background: Adolescent growth spurt is the fast and intense increase in the rate of growth in height and weight that occurs during the adolescent stage of the human life cycle.Objective and hypotheses: To investigate the changes of hormone levels and body composition in pubertal children with growth retardation.Method: A non-randomised clinical controlled study was conducted in 208 cases (males 122, 10–14 years and females 86,...

Background: Despite the importance of hypercholesterolemia in children, it is overlooked, and there are currently few metabolomics-based approaches available to understand its molecular mechanisms.Methods: Children from a birth cohort had their cholesterol levels measured with the aim of identifying the metabolites for the molecular biological pathways of childhood hypercholesterolemia. One hundred and twenty-five childr...

Background: Glycogen storage disease (GSD) is an inherited metabolic defect of metabolic defect of glycogenolysis and gluconeogenesis. Patients with GSDs are associated with endocrine abnormalities such as short stature, delayed puberty, fasting hypoglycemia, and dyslipidemia. In addition, patients with GSD 1b are also at risk of autoimmune hypothyroidism. Therefore, this study was performed to investigate endocrine complications in patients with GSD.<p cl...

Purpose: Patients with mixed gonadal dysgenesis (MGD) and ovotesticular disorders of sex development (DSD) usually present with asymmetric gonads. Differential diagnosis of these conditions is based on karyotype and pathological findings of gonads. However, it is difficult to determine sex of rearing and to predict long-term outcomes. This study investigated the clinical features, karyotype, sex of rearing, and pubertal outcomes of patients with MGD and ovotesticular DSD.<...

Background: The incidence of congnenital hypothyroidism (CH) differs significantly among different ethnicity and regions, and early differentiation of transient CH is important to avoid unnecessary prolonged treatment with L-T4, it is also helpful for predicting prognosis and alleviating families’ psychological burden.Objective and hypotheses: To investigate the incidence of CH based on the newborn screening program in Guangxi Zhuang Autonomous Regi...

Background: Turner syndrome, a condition that affects only girls and women, result when the X chromosome is missing or partially missing. Ornithine transcarbamylase (OTC) deficiency, the most common inherited urea cycle disorder, is transmitted as a partially dominant X-linked trait. The OTC gene maps to Xp21.1 and spans approximately 73 kb, containing 10 exons and 9 introns. OTC deficiency is diagnosed using a combination of clinical findings and biochemical testing, while co...

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...

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by a defect in cortisol biosynthesis. The most common form of CAH is the 21-hydroxylase deficiency (21-OHD), however, the incidence and the etiologic spectrum of other forms of CAH were not reported.Objective and hypotheses: This study describes the etiological distribution and clinical characteristics of CAH in a single academic centre.<p class...