ESPE Abstracts

DAX-1 is Dosage-sensitive sex reversal - Adrenal hypoplasia congenita critical region on the X chromosome 1, caused by mutation of NR0B1. It commonly presents X-Linked adrenal hypoplasia congenital, hypogonadotropic hypogonadism and infertility. However, we observed two patients whose testosterone elevated in their early infancy. Both of them are males with uneventful gestation and birth, and have a primary symptom as jaundice. For patient 1, poor feeding and pigment genital a...

Background: Data on the effect of cryptorchidism on hormones of androgen insensitivity syndrome (AIS) and 5alpha-reductase type 2 deficiency (5α-RD2) are still limited.Methods: We retrospectively evaluated 47 patients with AIS and 79 with 5α-RD2 to investigate the effect of cryptorchidism on hormone levels.Results: Anti-Müllerian hormone (AMH) levels in the AIS gro...

Objective: To explore the clinical and molecular genetic characteristics of congenital lipoid adrenal hyperplasia (CLAH), and to sequence the acute regulatory protein (steroid acute regulatory, StAR) gene of the infant patient and her pedigree.Methods: Physical examination, laboratory tests, and imaging examination of the 1-month- old patient with CLAH were collected. DNA was extracted from blood samples of the patient a...

Background: Type 1 diabetes (T1D) is an autoimmune disease (AID) whose primary features include progressive pancreatic β cell damage and absolute insufficient endogenous insulin secretion. Recent studies have shown that a Th1/Th2 cell subset unbalance and excessively activated B lymphocytes are important pathogenic mechanisms.Objective and hypotheses: To investigate the protective effects of Adenovirus-mediated IL-10 gene and anti-CD20 monoclonal an...

Introduction: To investigate the protective effects of combined intervention with adenovirus vector mediated interleukin 10 (IL10) and IGF1 genes on islet β cells in nonobese diabetes (NOD) mice with type 1 diabetes mellitus (T1D) at early stage.Methods: Twenty-four female NOD mice at onset of diabetes and aged 17–20 weeks old were randomly divided into four groups. Mouse 1, 2, and 3 groups were i.p. injected 0.1 ml of Ad-mIGF1, Ad-mIL10, and c...

Background: 3-Ketothiolase deficiency (3KTD) is an inherited error of metabolism affecting isoleucine catabolism and ketone body utilization. This disorder is clinically characterized by intermittent ketoacidotic episodes with no clinical symptoms.Objective and hypotheses: To research the gene mutation of 3 acetoacetyl-CoA thiolase in non-diabetic ketoacidosis and provide a basis for diagnosis of 3KTD.To reveal the role of 3 acetoacetyl-CoA thiolase in i...

Background: Notch1 – Delta-like ligand 4 (Dll4) signaling pathway has a biological effect of negative feedback regulation to VEGF in retinal vascular development process. There are few studies on the inhibition of Notch1-Dll4 signaling pathway in ROP and the regulatory pathway of VEGF.Objective and hypotheses: 67-day-old mice were divided into oxygen-induced retinopathy group and control group. We took ten mice from each group at postnatal day 7 (p7...

Background: Notch1-Delta-like ligand 4 (Dll4) signalling pathway has a biological effect of negative feedback regulation to VEGF in retinal vascular development process. There are few studies on the inhibition of Notch1-Dll4 signalling pathway in ROP and the regulatory pathway of VEGF.Objective and hypotheses: To investigate the role that Notch1-DLL4 signal pathway played in the oxygen-induced retinal neovascularization of mice by analyzing the expressio...

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...

Introduction: Treatment with recombinant human growth hormone (rhGH) is useful for growth failure in short stature children. But there are some reports of renal disease or complication occurring during rhGH treatment. GH and insulin-like growth factor-1 (IGF-1), together with other growth factors and cytokines, have important roles in adaptive morphological and functional changes in the kidney. This study was aimed to reveal the renal complication of hematuria...