ESPE Abstracts

Introduction: The heterozygous activating mutations in the KCNJ11 and ABCC8 are the commonest causes of permanent neonatal diabetes mellitus (PNDM). The most severe clinical form of NDM is DEND syndrome. Besides diabetes mellitus such patients show severe developmental delay, hypotonia and therapy-resistant epilepsy. To our knowledge only some cases of DEND syndrome due to ABCC8 mutations are sulfonylurea-responsive. Here we report case of DEND syndrome due t...

Background: Recently kisspeptins are considered as a key gatekeepers of the regulation of the gonadotropic axis.Objective and hypotheses: To investigate the impact of experimentally induced hypogonadism on kisspeptins signaling in androgen-dependent tissues and blood.Method: Wistar male rats (29 in total) were used. Rats were divided into four groups. Group 1 (control, prepubertal rats aged 2 months, n=7). Group 2 (control...

Background: In hypogonadotropic hypogonadism (HH), hypophyseal follicle-stimulating and luteinizing hormones, normally released with GnRH stimulation, are detected low. Since kisspeptin (KP) is a strong stimulant of GnRH neurons, it is considered to have a role in HH aetiology. It may be hypothesized that abnormal plasma levels of KP are indicative of HH.Aim: Evaluation and comparison of plasma KP levels in boys of pre-p...

Background: Currently, only two centers for diagnosis and treatment of growth disorders are operating in the Western and Eastern parts of Bulgaria. About 200 children are currently GH treated while at least as many children with growth disorders from mostly Central Northern and Southern Bulgaria are presumably not diagnosed. Thus inequalities in children's access to health care are created. In order to correct this and to quickly align practices between ex...

Background: Insulin pumps are widely used in the treatment of type 1 diabetes mellitus (T1D) in children because of numbers of advantages in compare with multiple daily insulin injections (MDI). However, the long-term efficacy of continuous subcutaneous insulin infusion therapy (CSII) in achieving and maintaining of diabet stability is still not resolved.Purpose: Determine the feffectiveness-related factors of glycemic c...

Background: Kisspeptins, ligands of G protein-coupled receptor 54 (GPR54) encoded by the KiSS-1 gene, have recently emerged as key players of the gonadotropic axis. It was found that KiSS-1/GPR54 system plays an important role in the neuroendocrine control of gonadotropin secretion, brain sex differentiation, puberty onset and fertility. It is important to know if the kisspeptin serum level could be used as a diagnostic criterion to the stage of puberty or impairment of it in ...

Although type 1 diabetes (T1D) is most common autoimmune chronic metabolic disease in childhood, data about the role of T-Lymphocytes (T-Ly) and B-Lymphocytes (B-Ly) in children after the diabetes onset are still controversial. The aim of the study was to evaluate the serum levels of T– and B-Ly in children with T1D as a predisposing factor for genital candidiasis (GC).Material: We studied 71 children with T1D at the age of 6 to 18 years, divided in...

Purpose: To assess the prevalence of pancreatic autoantibodies (Ab) and their impact on the course of type 2 diabetes mellitus (DM2) in adolescents.Materials and methods: ICA, GADA, IA-2 and IAA were measured in 66 patients with DM2. Depending on the presence of autoantibodies (Ab) patients were divided into 2 groups: Ab- and Ab+. HLA-typing was carried out in 45 patients. The secretion of C-peptide in the standard carbohydrate brea...

Introduction: The impact of gestational diabetes mellitus (GDM) on fetal development and the future health of the child need further studying. In accordance to the criteria by Hyperglycemia and Adverse Pregnancy Outcome Study, GDM can lead to a number of negative consequences, including the impact on disturbance of metabolic parameters.Aim: To compare the impact of glycemia during pregnancy on the children’s metabolic status.M...

Turner syndrome (TS) is characterized by partly or completely missing of an X chromosome and variability of clinical signs. We present tree Caucasian mosaic TS girls with unusual clinical course and discuss some literature.Case 1: A girl referred first to paediatric endocrinologist at the age of 8.5 y. for metabolic problems (an excessive weight gain, acanthosis nigricans, impaired glucose tolerance, hyperinsulinemia). The height was not a concern (Media...