ESPE Abstracts

Background: Recently, progranulin (PGRN) was a novel adipokine which is a key adipokine insulin resistance in adipose tissue. While GH was closely related to glucose metabolism and insulin resistance.Objective and hypotheses: We suspected that there maybe some positive relationship between GH and PGRN. Our study was to detect expression and regulation of PGRN in mouse 3T3-L1 cells follow the treatment with GH.Method: The mRNA was m...

Introduction: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It was demonstrated that ZnT family plays an important role in the synthesis and secretion of many hormones. Moreover, recently ZnT8 was described as a newly islet autoantigen in type 1 diabetes.Materials and methods: We studied the expression of ZnT8 transporter in thyroid tissues from patients with im...

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: Loss of function mutations in KISS1R, which encodes kisspeptin receptor have been reported in very few patients with normosmic isolated hypogonadotropic hypogonadism (nIHH).Objective and hypotheses: To describe the phenotype of the nIHH female patient with a novel homozygous KISS1R mutation and to characterize functionally this mutation. The patient was a 28 year-old Senegalese woman with primary amenorrhea. She was the seco...

Background: The two most commonly known types of Diabetes Mellitus (DM) are DM type 1 and DM type 2, characterized by insulin deficiency and insulin insensitivity, respectively. DM can also be associated with rare mutlisystemic syndromes such as Alstrom, Bardet-Biedl, Wolfram and pigmentary hypertrichosis insulin dependent diabetes (PHID) syndromes.Objectives: To understand the genetic and molecular basis of syndromic DM in a large cohort of patients.</p...

Background: Steroidogenic factor-1 (SF-1), denominated as nuclear receptor subfamily five group A member 1 (NR5A1), is an orphan receptor that regulates several steps of adrenal and gonadal development. Mutations in its gene are responsible for different phenotypes of disorders of sex development (DSD).Objective and hypotheses: To study the functional impact of two novel NR5A1 mutations, the p.C247* and p.K396Rfs*34, both identified within the l...

Background: Insulin/IGF1 signaling plays a critical role in central glucose bioavailability and lipid metabolism. An increase in glucose disposal can generate reducing agents through the pentose-phosphate pathway necessary for the synthesis of free fatty acids (FFA). Disturbances in lipid synthesis are related to the appearance of insulin resistance and diabetes. The insulin receptor substrate 2 (IRS2) deficient mice (IRS2−/−) is an excellent model to st...

Background: Orthodenticlehomeobox 2 (OTX2) is a transcription factor implicated in pituitary, ocular, and craniofacial development. To date, more than 30 mutations in OTX2 have been described in congenital hypopituitarism (CH) with or without ocular malformation. The pituitary phenotype varied from isolated GH deficiency (IGHD) to Combined Pituitary Hormone Deficiency (CPHD). However, CPHD including ACTH deficiency from neonatal period was rare among the previous reports. Here...

Background: IGF1R gene mutation usually cause IUGR. The children born with IUGR were prone to some kinds of brain function disorders.Objective and hypotheses: The dysfunction of the brain was caused by the abnormal oligodendrocyte development.To establish lentivirus vector of IGF1R gene mutation (R709Q) and transfect oligodendrocyte precursors (Ge6). Observe the IRS/MAPK and PI3K/Akt/PKB signaling pathway and the change of proliferation, differentiation,...

Objective: Excessive exposure to glucocorticoids (GCs) during gestation period not only causes fetal growth retardation but also increases the risk of adult metabolic diseases. 11 Beta-hydroxysteroid dehydrogenase (11β-HSD2) is a kind of glucocorticoid metabolic enzymes, which plays a role to the placental GCs barrier during gestation period. The aim of this study is to investigate the effect and mechanism of sonic hedgehog (Shh) signalling on regulation the expression of...