ESPE Abstracts

Background: Autoimmune thyroid disease (AITD) is the most common organ-specific autoimmune disorder. Genetic background, environmental and endogenous factors are play important roles in determining the activation of immune cells or the efficacy of the immunoregulatory pathways. Recently emphasizes the immunosuppressive role of B regulatory cells (phenotype CD19+CD24hiCD27+IL-10+, CD19+IL-10+) in regulation of immune respon...

Objective: We try to investigate the polymorphisms and amino acid variants of HLA-A, -B, -C, -DRB1, -DQB1, -DPB1 molecules in early-onset AITD.Methods: The genotypes of HLA-A, B, C, DRB1, DQB1, and DPB1 on AITD were analyzed in 102 Korean children with AITDs (Graves’ disease (GD)=62, Hashimoto’s disease (HD)=40) and 142 healthy control using sequence-based typing. Analysis of variant amino acids was performed across the genotyping results with ...

Background: Little is known about the pancreatic changes during type 1diabetes (T1D) progression. Recently shear wave elastography (SWE) has emerged as a tool of pancreatic stiffness assessment in chronic pancreatitis and pancreatic cancer with few studies assessing it in diabetes. Objective: to compare the pancreatic SWE in children with recent-onset and long standing T1D to healthy controls and to correlate it to diabetes-duration, glycemic control (HbA1C), ...

Background: B-Lymphocyte kinase gene (BLK) gene acts on insulin synthesis and secretion, and mapped locus on chromosome 8p23. Monogenic diabetes due to BLK gene mutation is very rare and it’s named as MODY11. We aimed to present differences in clinical, laboratory and treatment of the patients with BLK mutations.Methods: OGTT performed in six patients. A panel of 23 MODY genes was screened. Patients with BLK</e...

Background: Anti-Müllerian hormone (AMH) and inhibin B (INHB) are two hormones investigated as markers of ovarian reserve in female. serum AMH and INHB levels change through the progression of puberty, and might be markers for identifying pubertal progression rate in girls.Objective and hypotheses: To invetigate serum AMH and INHB levels as markers of pubertal progression rate in girls with central precocious puberty (CPP).Met...

Background: Transient generalized glucocorticoid hypersensitivity is a rare disorder characterized by increased tissue sensitivity to glucocorticoids and compensatory hypoactivation of the hypothalamic–pituitary–adrenal (HPA) axis. The condition itself and the molecular mechanisms that underlie its pathophysiology have not been elucidated as yet. Adenovirus 36 has been reported to cause obesity in various animal species.Objective and Hypotheses...

Background: Sea-blue histiocytosis is a morphological finding that can be associated both with acquired conditions of increased cellular turnover and inborn errors of lipid metabolism.Objective and hypotheses: To present a Chinese boy of hypertension and sea-blue histiocytosis secondary to Niemann–Pick disease type B.Methods: Diagnosis was confirmed by the bone marrow aspiration and the specific enzyme assay of leukocytes (def...

Background: Decreased reproductive rates have been reported in men born prematurely. This potentially relates to an impaired Sertoli cell proliferation during the postnatal hypothalamic-pituitary-gonadal activity, which has been suggested to have a role in later reproductive capacity.Objective and hypotheses: To compare the levels of Sertoli cell markers in premature (PT) and full-term (FT) boys in infancy.Method: Serum AMH and inh...

Background: Hypogonadism is one of the most frequent endocrine complication after hematopoietic stem cell transplantation (HSCT). In some patients hypogonadism could be transient, but very often coexists with prematury ovarian failure. Classical methods used in the diagnostics of hypogonadism have limitations for the prognosis of ovarian reserve.Objective: The aim of the study was to assess ovarian reserve in patients after HSCT using ev...

Background: Nutrition is an important factor to regulate reproductive function. Some studies showed that high fat diet (HFD) may influence to puberty onset and irregular estrous cycles in the female rats. However, underlying regulation mechanism of nutrition on pubertal maturation and reproductive function is not well-known. Kisspeptin and neurokinin B (NKB) are an essential factor for regulation of pubertal development.Objective and hypotheses: In this ...