ESPE Abstracts

Introduction: To investigate the protective effects of combined intervention with adenovirus vector mediated interleukin 10 (IL-10) and insulin-like growth factor 1 (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 intraperitoneally ...

Background: To evaluate potential function of visfatin in SW872 adipocytes under the conditions which produce insulin resistance by free fatty acids (FFAs). Then to explore the mechanism of visfatin on the level of signal molecules.Objective and hypotheses: To evaluate the effects of visfatin on the mRNA expressions of the insulin signal molecules including insulin receptor substrate 1 (IRS1), IRS2, and phosphatidylinositol 3 kinase (PI3K) on the states ...

Context: Data and studies based on exome sequencing for the genetic evaluation of short stature are limited, and more large-scale studies are warranted. Some factors increase the likelihood of a monogenic cause of short stature, including severe short stature (<–3 standard deviation scores) and small for gestational age (SGA) without catch-up growth. However, whether these factors can serve as predictors of molecular diagnosis remains unknown.<p c...

Background: In Brazil, specially in the south, there is a high prevalence of p53 mutations – 1:300 compared to 1:5000-1:20000 incidence worldwide. (1) As a consequence, adrenocortical carcinoma as a cause of virilization in children is much more common in our practice.Clinical Case: M.P.O., a 32-month-old girl, was referred to our institution - Hospital de Clínicas de Porto Alegre - in May 2022 due to progre...

Background: In Brazil, specially in the south, there is a high prevalence of p53 mutations – 1:300 compared to 1:5000-1:20000 incidence worldwide. (1) As a consequence, adrenocortical carcinoma as a cause of virilization in children is much more common in our practice.Clinical Case: M.P.O., a 32-month-old girl, was referred to our institution - Hospital de Clínicas de Porto Alegre - in May 2022 due to progre...

Though most ophthalmologic emphasis has been stressed on the influence of retinopathy on the young diabetic community, lesser known is the complication of cataract, which has resulted in more than half of the blindness worldwide. This study attempts to stratify the epidemiology and risk factors of cataract in the type 1 diabetes mellitus (T1DM) population using data extracted from the National Health Insurance Research Database (NHIRD) in Taiwan.A two-st...

Objective: 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia due to CYP21A2 gene mutation. The aim of study is to expand CYP21A2 mutational spectrum in the Chinese population and to provide novel genetic information in terms of ethnic diversity.Methods: 95 Chinese suspected 21-OHD patients with phenotypes varying from salt-wasting (SW) to nonclassic symptoms w...

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...