ESPE Abstracts

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: Accumulated evidence indicates that the GH-IGF-1 pathway might be one of the crucial mechanisms of ISS. Insulin-like growth factor-1 receptor (IGF-1R) is the effector molecule that regulates the cascade reaction of hormone receptors in the GH–IGF-1 axis.Objective and hypotheses: To investigate the role of IGF-1R gene polymorphisms with regard to susceptibility to Idiopathic short stature risk in the Chinese population of Jiangxi area.</p...

Objective: To report a family with MODY2 associated with GCK gene mutation and improve clinicians' understanding of this gene mutation.Methods: The clinical manifestations, laboratory examinations and genetic test results of a MODY2 family diagnosed and treated in our hospital were analyzed retrospectively, and the related literatures were reviewed.Results: The patient is a 6-...

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...

Objective: To report the clinical and gene mutation characteristics of a patient with lysine urinary protein intolerance (LPI) characterized by lupus nephritis, lupus encephalitis and extreme short stature, so as to improve understanding of the clinical characteristics of LPI caused by SLC7A7 gene mutation.Methods: The clinical manifestation, laboratory examination and gene test results of a child with LPI diagnosed and ...

Objective: To retrospectively analyze the clinical data, laboratory examination, gene test results, diagnosis and treatment of a case of small gestational age, short stature and microcephaly in the department of Endocrinology, Genetics and Metabolism of Jiangxi Children's Hospital.Methods: The detailed clinical symptoms and family history of the children and their families were evaluated. 2ml peripheral blood of the...

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,...

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...

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 ...

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...