ESPE Abstracts

Background: Vitamin D, mainly important in calcium phosphate homeostasis and bone health, has been recently suggested as an important factor in pathogenesis of numerous chronic conditions such as type 2 diabetes, metabolic syndrome and polycystic ovarian syndrome (PCOS).Objective and hypotheses: The aim of this study is to investigate the relation between PCOS and premature adrenarche (PA), suggested as predictor of PCOS.Method: A ...

Background: Aldosterone synthase deficiency (ASD) caused by mutations in the CYP11B2 gene is characterized by isolated mineralocorticoid deficiency. Data is scarce regarding clinical and biochemical outcomes of the disease in the follow-up.Objective: Assessment of the growth and steroid profiles of patients with ASD at the time of diagnosis and after termination of treatment.Design an...

Purpose: Our study aimed to examine the effects of blue light exposure on prepubertal male rats’ puberty and testis tissue.Methods: Eighteen 21-day-old male Sprague Dawley rats were divided into three groups consisting of six rats in each group: Control Group (CG), Blue Light-6 hours (BL-6), and Blue Light-12 hours (BL-12). CG rats were maintained with 12/12-hour light-dark cycles. The rats of BL-6 and BL-12 were e...

Introduct&idot;on: Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by damage to β cells in the pancreas. Neopterins and indolamine 2,3-dioxygenase (IDO) activity, which is shown by the ratio of kynurenine to tryptophan, can be used as an indicator in the regulation of cellular immunity. Oxidative stress produced by xanthine oxidoreductase has been shown to be associated with vascular endothelial dysfunction. It uses the conversion of p...

Keywords: diabetes, MODY, atypicalIntroduction: Type 1 Diabetes (T1D) is the most common cause of diabetes in childhood, but Type 2 Diabetes (T2D) and monogenic diabetes has attracted increasing attention recently. Cases with atypical diabetes may be challenging for diagnosis, treatment and follow-up management. The purpose of this study was to present the characteristics of atypical diabetes cases from a tertiary referr...

Keywords: Syndromic Obesity, Child, GeneticsObjective: Syndromic obesity is accompanied by dysmorphic findings, motor and mental retardation, and organ anomalies. In this study, we aimed to evaluate the patients who were followed up with a diagnosis of syndromic obesity in our clinic.Materials and Methods: Demographic, clinical, and biochemical data of the patients followed up betwee...

Introduction: Prader-Willi Syndrome (PWS) is characterized by severe neonatal hypotonia and feeding difficulty with subsequent hyperphagia, hypogonadism, and short stature. PWS has a prevalence of 1 in 10,000-30,000. Obesity-related complications occur from early childhood onwards. Liraglutide is a glucagon-like peptide-1 (GLP-1) analog that reduces appetite and body weight and improves glycemic control. Scarcity of oxytocin-producing neurons in the hypothalam...

Background: Next-generation sequencing (NGS) technologies have improved our knowledge about the genetic basis of congenital hypothyroidism (CH). The objective of our study was to evaluate the molecular genetic etiology in our primary CH cohort by using the NGS-based panel.Subjects and Methods: The clinical and genetic characteristics of 147 patients (61 female) from 129 unrelated families were evaluated. The patients wer...

Background: Co-occurrence of type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) denote variant of autoimmune polyglandular syndrome type 3 (APS3v). Thyroid autoimmunity in T1D was widely studied, but a few studies examined β-cell autoimmunity among AITD patients. Several susceptibility genes for APS3v have been identified: HLA class II, CTLA-4 and PTPN22 gene.Objective and hypotheses: To investigate β-cell autoimmunity and genetic poly...

Objective: Postprandial hyperinsulinaemic hypoglycaemia (PPHH) or “late dumping syndrome” is a well-recognised complication following gastrointestinal surgery and has been less commonly identified idiopathically in paediatric patients. This study describes and compares the characteristics, diagnosis, management and outcomes of paediatric idiopathic and surgical PPHH.Design: Retrospective chart review of child...