ESPE Abstracts

Abstract Withdrawn...

Background: Mosaic variegated aneuploidy syndrome（MVA）is a rare genetic disease characterized by mosaic aneuploidies, intrauterine growth restriction, developmental delay, microcephaly, facial dysmorphism, mental retardation, and susceptibility to tumor. It is autosomal recessive and caused by mutations in BUB1B, CEP57, and TRIP13. This study hereby presents a 9-year-old girl with intrauterine growth restriction, short stature, microcephaly, faci...

Objective: To investigate the role of serum anti-mullerian hormone (AMH) and inhibin-B (INHB) in central precocious puberty precocious puberty (CPP) and early and fast puberty (EFP).Methods: A total of 423 girls with CPP, EFP, premature thelarche (PT) and undeveloped healthy who were treated in our Hospital from October 2020 to December 2022 were collected. General data, sex hormones, AMH, INHB levels and gonad ultrasoun...

Objective: To investigate the characteristics of glucose metabolism in children with β-thalassemia major (β-TM) after allogeneic hematopoietic stem cell transplantation (HSCT), and to identify the factors that influence abnormal glucose metabolism after HSCT for children with β-TM.Methods: A total of 41 children with β-TM who underwent HSCT at Hematopoietic Stem Cell Transplantation Department of Chil...

Background: Congenital sodium diarrhea (CSD) is a monogenic disorder caused by specific genetic defects that increase sodium content in the stool, resulting in intractable diarrhea. There are two categories of CSD depending on whether it involves other congenital malformations: non-syndromic congenital sodium loss diarrhea (non-sCSD) and syndromic congenital sodium loss diarrhea (sCSD). For non- sCSD, the identified causative genes include SLC9A3 and GUCY2C, w...

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:<...

Objectives: To present Chung-Jansen Syndrome or CHUJANS by a de novo variant in the pleckstrin homology domain-interacting protein (PHIP) gene and compare the clinical phenotype with previous case reports; ②To provide a novel genetic detection methods with whole-exome sequencing(WES) and whole genome sequencing(WGS) and Sanger sequencing for rare genetic diseases.Patients and methods: Following collecting clinical...

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...

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...

Objective: We aim to investigate the association among progranulin (PGRN), high-mobility group box 1 (HMGB1), and obesity related markers in young rat model of high fat diet-induced obesity.Materials and Methods: 20 Male Sprague-Dawley (SD) rats at the age of 21 days were divided into two groups randomly. The rats were fed with normal diet (NC group) or high-fat diet (OB group). The NC group and OB group were sacrificed ...