ESPE Abstracts

Objective: Maturity onset diabetes of the young (MODY)5 is a type of monogenic diabetes. Primary autosomal recessive microcephaly (MCPH)3 is a rare microcephaly caused by depletion of neuronal progenitor cells characterized by mostly normal brain structure, mental retardation, and premature closure of the frontal cranial suture. To report a case of MODY5 combined with MCPH3, in order to increase the clinical attention to this disease.<st...

Objectives: The aim was to clarify the associations of Irisin with obesity and early onset metabolic and vascular sequelae in Chinese children, and to examine whether the association between obesity and endothelial dysfunction and vascular Inflammation was mediated by Irisin.Methods: We quantified Irisin serum levels in 85 lean and 120 obese children and assessed associations with metabolic and cardiovascular parameters ...

Objective: Asprosin, a novel peptide that has recently discovered as an important regulatory adipokine, is relevant to obesity in animals and adult humans. Little is known about its roles in children. The aim of the current study was to determine the potential role of asprosin and explore its relationship to various obesity-related markers in children with obesity.Methods: A cross-sectional study was conducted among 119 ...

Objective: The aim was to investigate the mechanism for impaired control of lipolysis in obesity by investigating the effect of PID1 on insulin-induced activation of AKT/PKA/HSL pathway and lipolysis.Methods: First, CIDEC expression was detected in adipose tissue and blood insulin and glycerol levels were measured in high-fat diet-induced obese rats. Next, we examined the effect of different concentrations of insulin on lipolysis and AKT/PKA/HSL pathway ...

Background: The dysregulation of adipocytokines with increasing fat mass may directly contribute to hypertension. It has been confirmed that chemerin and adiponectin can affect BP. However, the effect of other adipocytokines on the development of hypertension is still poorly understood.Objective and hypotheses: The aim was to evaluate the associations of Sfrp5 and Wnt5a with blood pressure (BP), and to examine whether BP can be influenced by changes in a...

Background: Androgen insensitivity syndrome (AIS) is a common 46XY disorders of sex development (DSD), which is mainly caused by mutations in the androgen receptor (AR) gene. The clinical manifestations vary among patients, depending on residual androgen receptor activity.Methods: Five patients with different degrees of masculinization of external genitalia were selected as the research objects. As well as the detailed m...

Objective: The aim of this study was to detect potential gene mutation of Noonan Syndrome in a Chinese family.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The PTPN11, KRAS, SOS1, RAF1, NRAS, BRAF, RIT1, SOS2, LZTR1, SHOC2, CBL, NF1 gene was sequenced to identify the pathogenic mutation responsible for the development of Noonan Syndrome by P...

Objective: The aim of this study was to detect potential gene mutation of idiopathic hypogonadotropic hypogonadism Syndrome (IHH) in a Chinese family.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A Disorder of Sexual Development (DSD) gene panel was applied to identify the pathogenic mutation responsible for the DSD and verified by Sanger.</...

Background: Permanent neonatal diabetes mellitus (PNDM) is a rare form of monogenic diabetes with onset less than 6 months of age. Together, activating mutations in KCNJ11 and ABCC8 genes, that encode the Kir6.2 andsulfonylurea receptor 1 (SUR1) subunits, respectively, account for nearly 50% of PNDM cases.Case report: We present a case reported a child diagnosed with PNDM resulting from a new mutation in the insulin (INS) gene, leading to severe hypergly...

Background: Cell death-inducing DFF45-like effector C (CIDEC) is a novel lipid droplet-coating protein that promotes triglyceride accumulation and inhibits lipolysis. TNFα downregulates CIDEC levels to enhance basal lipolysis, while CIDEC overexpression could block this effect. However, the signalling mechanism by which TNFα regulates CIDEC expression in human is still unknown.Objective and hypotheses: The aim of this study was to investigate t...