ESPE Abstracts

Objective: X-linked agammaglobulinemia (XLA) is a kind of primary immunodeficiency disease caused by mutations in the gene encoding Bruton agammaglobulinemia tyrosine kinase (BTK). This study, we identified a novel in frame deletion mutation in exon11, c.902 _ c.904 delAAG(p.e301 _ g302 delinsG) in BTK gene and evaluated the function of BTK.Methods: A five-year-old boy presented with recurrent respiratory tract infections. His height wa...

Background: Genome-wide association studies have identified rs314276, rs314263, rs7759938 and rs314280 in or near the LIN28B gene as associated with age at menarche. To date, the effect of polymorphisms in this gene on idiopathic central precocious puberty (ICPP) in Chinese girls have not been reported.Objective and hypotheses: The aim of this study was to evaluate the association of the four loci with ICCP in Chinese girls.Method:...

Background: Steroid 5-α reductase type 2 (SRD5A2) deficiency is an rare inherited disorder resulting from mutations in the SRD5A2 gene, causing 46,XY DSD (Disorder of Sex Development). The mutated SRD5A2 enzyme can no longer convert testosterone to dihydrotestosterone, which is needed for virilisation of external genitalia.Objective and hypotheses: To describe the phenotype, investigations and management of SRD5A2 deficiency.<p class="a...

Nonalcoholic fatty liver disease (NAFLD),which represents the leading cause of hepatic damage worldwide,is modulated by epigenetic factors, in particular microRNAs (miRNAs), which control at post-transcriptional level many complementary target mRNA. However, the evidence for this is inconsistent. The high stability and expression of circulating exosomal miRNAs may allow their use as candidate biomarkers. For the discovery phase,exosomes were isolated from the serum of patients...

Wolf-Hirschhorn syndrome is a genomic disorder caused by 4p16.3 deletion with facial dysmorphology, growth retardation, developmental/intellectual delay and seizures. After 165 kb critical region encompassing NSD2 was identified, most recently, three NSD2 loss of function variants was uncovered in patients with overlapping phenotype with Wolf-Hirschhorn syndrome. In our study, a NSD2 variant, c.1577dupG (p.Asn527fs*14) was identified in two patie...

Central precocious puberty (CPP) is the endocrine disorder triggering by many factors those can activate the hypothalamic-pituitary-gonadal axis early which controlled GnRH secretion. However, the mechanism of CPP has not been elucidated. The study of patients with familial CPP helped understanding the complex physiological processes. Recently, loss-of-function mutations in human Makorin ring finger protein 3 (MKRN3) were found to contribute to over 30% of cases of familial CP...

Background: The correlation between free thyroid hormones and poor diabetic control in children with diabetic ketoacidosis (DKA) and the effects of thyroid hormone therapy on euthyroid sick syndrome (ESS) remain unclear.Objective and hypotheses: To investigate characteristics of ESS in children with DKA and the effects of thyroid hormone therapy on ESS. In children with DKA, free thyroid hormones may be associated with the severity of DKA and thyroid hor...

Background: It remains unclear whether specimen repeated freeze-thaw cycles can influence urinary lutenising hormone (LH) and follicular stimulating hormone (FSH) assayed by immunochemiluminometric assays (ICMA).Objective and hypotheses: To investigate the effect of specimen repeated freeze-thaw cycles on urinary LH and FSH determined by ICMA.Method: The first morning-voided urine was collected and divided two parts. One part was s...

Background: The incidence of non-alcoholic fatty liver disease (NAFLD) in children increased rapidly paralleled with the global burden of obesity and diabetes. Although most patients are nonalcoholic fatty liver (NAFL), once progress to nonalcoholic steatohepatitis (NASH), the risk of liver fibrosis and cirrhosis increase significantly. However, the pathogenesis of NAFLD, especially how NAFL progress to NASH is still unclear. Exosomal miRNAs have attracted att...

Objective: We aimed to investigate the usefulness of abdominal adiposity and total body fat as predictors of cardiometabolic health, especially insulin sensitivity, in children and adolescents.Methods: Participants were 479 children and adolescents with obesity (322 boys and 157 girls) aged 3 to 18 years attending the Children's Hospital at Zhejiang University School of Medicine (Hangzhou, China). Participants underw...