ESPE Abstracts

Background: Several studies have shown that born small for gestational age (SGA) children have earlier precocious puberty, progress faster, and are less likely to gain target height in adults than children born appropriate for gestational age (AGA). Moreover, SGA children are more prone to metabolic disorders - obesity, diabetes and cardiovascular disease.Objective: To compare the physical development status, serum lipid...

An increased iron overload led to a disorder in glucose metabolism. However, the mechanism through which iron overload induces beta cell death remains unknown. The present study revealed that ferric ammonium citrate treatment inhibited cell viability in vitro, induced a decline in mitochondrial membrane potential, increased oxidative stress and activated mitophagy. These effects could be alleviated by a reactive oxygen species scavenger. In summary, we demonstrated th...

Background and Aims: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2 gene is the most common form of CAH. This study aims to analyze the phenotype-genotype correlation and the characteristics of gene mutation frequency of 21-OHD patients in China, helping to provide evidence for clinical practice and genetic counseling of 21-OHD patie...

Background and aims: A novel bioactive peptide, mitochondrial-derived peptide (MOTS-c), has recently attracted attention as a potential prevention or therapeutic option for obesity and type 2 diabetes mellitus (T2DM). MOTS-c profiles have not yet been reported in human obesity and T2DM. We aimed to determine circulating MOTS-c levels in obesity and explore the association between MOTS-c levels and various metabolic parameters. Methods: In this case-control study, 40 obese chil...

Objective: To study the relationship between serum uric acid (SUA) and metabolic syndrome (MS) factors in simple obesity children.Methods: Data of 70 simple obesity children (50 boys and 20 girls, ages 10.50±3.44) and 30 age- and sex-matched children (17 boys and 13 girls, ages 9.96±2.48) with normal body mass index (BMI) were studied. Anthropometrics, SUA, lipid profiles, glucose and insulin concentration were determined. The differences of pa...

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a X-linked enzymopathy. Hemolysis during type 1 diabetes mellitus (T1DM) treatment in patients with G6PD deficiency has been reported, but the underlying pathogenesis is not fully clarified.Objective and hypotheses: We try to explore the association between the two diseases.Method: We report a girl in whom hemolysis occurred after diabetic ketoacidosis (DKA) treatme...

Background: 5α-reductase type 2 deficiency is a rare autosomal recessive hereditary disease. SRD5A2 gene defects lead to dysfunction of 5α-reductase type 2, that impair the conversion of testosterone to dihydrotestosterone and cause clinical features.Objective and hypotheses: To analyze the clinical manifestations and gene mutations of 5α-reductase type 2 deficiency in childhood.Method: The clinical features, laborat...

Background: Rathke’s cleft cyst (RCC) has been reported rarely in children and adolescents. The occurrence of RCC with hypoplastic anterior pituitary can be explained by their common embryologic origin. However, the effects and sfety of recombinant human GH (rhGH) in GH deficient (GHD) children with RCC has not been previously reported.Objective and hypotheses: To assess the effects and safety of recombinant human GH (rhGH) in GH deficient (GHD) chi...

Background: Costello syndrome is a rare congenital disorder with characteristic findings involving multiple organ systems. The Costello Syndrome Family Network estimates that the birth prevalence in the United Kingdom is at least 1/500,000. So far, there has been only one affected individual reported in China.Objective and hypotheses: Diagnose the case of autosomal dominant Costello syndrome by direct squencing of HRAS gene. Analyze the correlation betwe...

Background: Secondary diabetes in children, often rising from the treatment of the primary disease. However, not enough attention has been paid. We analyze the cases of secondary diabetes in children identified from 2002 to 2010 in our hospital for the frequency and clinical features, so as to gain a better understanding of the disease.Objective and hypotheses: To investigate the prevalence and association factors of secondary diabetes in Chinese hospita...