ESPE Abstracts

Background: Early timing of puberty is associated with worse cardiometabolic health in adulthood. Furthermore, birth weight (BW) is recognized to have implications for pubertal development and cardiometabolic risk factors. The study aimed to examine the independent association between birth size, dehydroepiandrosterone sulfate (DHEAS) and cardiometabolic risk factors in idiopathic central precocious puberty (ICPP) girls.Methods:<...

Background: Fibroblast growth factor receptor 3 (FGFR3) is a negative regulator of skeletal development. Gain-of-function point mutations in FGFR3 are responsible for hypochondroplasia (HCH), one of the most common forms of dwarfism in humans. Autophagy is an evolutionarily conserved catabolic process, which is indispensable for cell homeostasis maintenance and stress responses. Dysregulation at the level of autophagic activity consequently disturbs the chondr...

Type 1 diabetes mellitus is autoimmune T cells mediated destruction of β-cells. Mesenchymal stem cells (MSCs) are considered a promising treatment for T1DM due to the strong immunosuppressive and regenerative capacity. However, the comprehensive mechanism is still unclear. Our previous study indicated that the transforming growth factor beta-induced gene (TGFBI) is highly expressed in human umbilical cord derived mesenchymal stem cells (hUC-MSCs), which is also implicated...

The DHX37 gene has been identified to cause 46, XY disorders of sex development (DSD), yet there are no reports in China. Here, we report a Chinese pediatric case of 46, XY DSD identified by Whole-exome sequencing which carried a heterozygous missense mutation c.2020 C > T (P.R674 W) in DHX37 gene (NM _ 032656) inherited from the mother. Gonadal pathology showed that the left gonad was structured with a vas deferens and epididymal duct, and the right gonad had vas deferens,...

Growth differentiation factor 5 (GDF5) was reported to regulate brown adipogenesis, however, its effects on insulin sensitivity, full metabolic syndrome spectrum and the thermogenesis in subcutaneous white adipose tissue (sWAT) haven't been elucidated yet. We thus generated fatty acid-binding protein 4 (Fabp4)-GDF5 transgenic mice and showed that GDF5 transgenic mice developed a relative lean phenotype on a high-fat diet (HFD) and showed increased insulin sensitivity. Over...

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...

Objective: To investigate the early predictors of serum IGF-1, DHEAS, AMH and BMP-6 in rapidly progressive puberty girls.Methods: 750 cases of central precocious puberty(CPP), early puberty(EP) and rapidly progressive puberty(RPP) in Children's hospital of Soochow university were recruited from August 2017 to December 2018. After follow-up six months to one year, 138 girls were divided into CPP(n=32), EP...

Circulating Exosomal miRNAs involved in the Pathogenesis of Children Nonalcoholic Steatohepatitis.Background: The incidence of children non-alcoholic fatty liver disease (NAFLD) increased rapidly paralleled with the global burden of obesity and diabetes. Although most patients are nonalcoholic fatty liver, there are still a small part of them will progress to nonalcoholic steatohepatitis (NASH), fibrosis and cirrhosis. However, the diagnosis of NASH is b...

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...