ESPE Abstracts

Backgroud: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inherited disorder of gluconeogenesis, which caused by the mutations in the FBP1 gene. FBPase deficiency is characterized by recurrent episodes of hypoglycemia with metabolic and lactic acidosis. If diagnosed early, the prognosis of this disorder is excellent by the prevention of hypoglycemia and avoidance of intake of fructose and sucrose. However, the misdiagnosis of FBPase defi...

Key words: Type 1 diabetes mellitus; Intestinal flora; metagenomic sequencing; cytokines; AutoimmunityObjective: This study aims to verify the effect of intestinal microbiota diversity on the disease development of T1DM mice model, and to explore the mechanism of intestinal microbiota in the development of type 1 diabetes mediated by related cytokines.Method: T1DM mouse model was e...

Background: It is now widely accepted that chemical pollutants in the environment can interfere with the endocrine system. The impact of endocrine disrupting chemicals on puberty disorders is concerned. bisphenol-A (BPA) has been measured in fetal plasma. There are different toxic effects with different doses of BPA.Objective and hypotheses: To observe vaginal opening day (VOD) hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression ...

Background: Male genital abnormalities may be associated with environmental endocrine disruptors.Objective and hypotheses: To observe the hypothalamic kiss-1 gene and the testis androgen acceptor (AR) gene expression level changes and the level of serum luteinizing hormone (LH), follicle stimulating hormone (FSH); testosterone (T) and Inhibin B (INH B) in neonatal rats which exposure to different doses of bisphenol-A (BPA). In order to explore the effect...

Background: Androgen insensitivity syndrome (AIS) is a common 46XY disorders of sex development (DSD), which is mainly caused by mutations in the androgen receptor (AR) gene. The clinical manifestations vary among patients, depending on residual androgen receptor activity.Methods: Five patients with different degrees of masculinization of external genitalia were selected as the research objects. As well as the detailed m...

Cornelia de Lange syndrome (CdLS) is a multisystem organ developmental disorder characterized by growth and cognitive deficits and premature aging, caused by mutations in genes coding for the cohesin complex. CdLS cells presented with gene expression dysregulation, genomic instability, decreased energy production and oxidative stress. Variants in the cohesin loading factor Nipped-B-like (NIPBL) gene can be identified in approximately 70% of cases and the ...

Objective: To explore the clinical characteristics of diagnosis and treatment in patients with congenital tufting enteropathy.Method: A rare case of congenital tufting enteropathy was diagnosed at West China Second University Hospital, Sichuan University in July 2016, the clinical data of congenital tufting enteropathy was analyzed retrospectively, and the related literature were reviewed. Original papers on congenital tufting enteropathy published until...

Objective: To investigate the relevant prognostic factors and long-term safety of gonadotropin-releasing hormone analogs (GnRHa) in the treatment of idiopathic central precocious puberty (ICPP).Methods: This was a retrospective study. Data analysis included 142 girls with ICPP who reached final adult height (FAH). Among them, 101 girls were treated with GnRHa while 41 girls were untreated. The Pearson and Spearman correl...

Inherited thyroxine binding globulin (TBG) disorder can be identified incidentally or through neonatal screening test. TBG excess is characterized by high levels of thyroxine (T4) but normal level of free T4 (fT4), while TBG deficiency presents with low T4 levels and normal fT4 levels. TBG excess is caused by TBG gene duplication or triplication. A 27 day old newborn was brought to the hospital because of hyperthyroxinemia that was identified through neonatal screenin...

Background: Silver Russell syndrome (SRS) is an imprinting defect disease.Objective: To study clinical characteristics and imprinting defects in Chinese children with SRS.Methods: Forty-nine SRS cases were studied retrospectively. Out of these 49 cases, 36 were available to be detected chromosome 11p15 imprinting defects and 21 cases were detected uniparental disomy of maternal chromosome 7 (UPD(7) mat).Resul...