ESPE Abstracts

Background: Hypospadias in boys may be associated with a lack of androgen exposure during the masculinisation programming window. As testosterone has effects on the vasculature, we assessed whether boys with hypospadias show any evidence of vascular dysfunction.Methods: Excess foreskin tissue was obtained from boys undergoing hypospadias repair (cases) or circumcision (controls) and small arteries dissected from this tissue. Vascular contractility was as...

Background: Hypogonadism has been associated with cardiovascular disease. However, little is known about the cardiovascular impact of hypogonadism during development. Using hypospadias as a surrogate of hypogonadism, we investigated whether hypospadias is associated with vascular dysfunction during childhood and whether it is a risk factor for adult cardiovascular disease.Methods: Our human study spanned molecular mechan...

Introduction: Mitochondrial-derived peptide (MOTS-c) is originated from the 12S ribosomal region of mitochondrial DNA. MOTS-c functions as an activator of AKT and AMPK, which are involved in the insulin signaling pathway. In experimental studies, MOTS-c administration was shown to reduce insulin resistance and obesity. Besides, MOTS-c levels were decreased and negatively correlated with insulin resistance in obese male children. In male cases, the MOTS-c</...

Introduction: Residual C-peptide secretion has been associated with less hypoglycemic events and lower glycemic variability in patients with Diabetes Mellitus type 1 (DM1), primarily in adults. The authors sought to evaluate the association between residual C-peptide secretion in pediatric patients with DM1 and glycemic control variables.Methods: Cross-sectional study conducted in a level II hospital, in DM1 patients you...

Background: Preservation of C-peptide is important and has become regarded a relevant endpoint as already a quite small residual C-peptide seems to be related to both less acute and late diabetes complications.Objective: To assess the residual C-peptide secretion in pediatric patient with T1D.Method: Cross-sectional study of 157 patients with T1D. We analyzed: age at diagnosis, age at time of study (years), sex, diabetes duration (...

Introduction: Variants in the N-terminal of the Indian-hedgehog gene (IHH) have been associated with Brachydactyly type-A1 (AD) and Acrocapitofemoral dysplasia (AR), only three of which have been functionally studied. However, heterozygous IHH variants, majority classified as variants of unknown significance (VUS) are being increasingly identified, not only in the N-terminal but also in the uncharacterized C-terminal, by NGS, in individuals with short...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

Background: The hallmark of congenital hyperinsulinism (CHI) is the demonstration of detectable plasma insulin during hypoglycaemia. Insulin can be undetectable in a significant proportion of patients with CHI. Plasma samples for insulin requires rapid and careful handling for reliable results. There is little published data on the value of C-peptide in the diagnosis of CHI.Objective and hypotheses: To assess the usefulness of C-peptide in the diagnosis ...

Introduction: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the Fas apoptotic inhibitory molecule 2 (FAIM2) gene, the high-affinity alpha subunit (CD25) of the interleukin-2 receptor (IL-2RA) gene, the cytotoxic T cell antigen 4 (CTLA-4) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective: To estimate...

Background: C-peptide secretion is the most accurate measurement of residual β-cell function in type 1 diabetes (T1D) and even residual levels seem to positively correlate with a lower probability of complications.Objective and hypotheses: Identify key determinants to the evolution of the β pancreatic cell function, measured by fasting C-peptide (FCP).Method: Prospective study of patients diagnosed with T1D, with evaluati...