ESPE Abstracts

Background and Aims: In patients with congenital hyperinsulinism (CHI), recurrent hypoglycaemia can lead to longstanding neurological impairments. At present, glycaemic monitoring is with infrequent fingerprick tests; a practice which can miss hypoglycaemic episodes between tests. Continuous glucose monitoring (CGM) is a promising alternative method which has the utility to identify risk and patterns of hypoglycaemia. Although CGM is well established in type 1...

Prader Willi Syndrome (PWS) is a rare neuro-genetic disorder inherited as a result of lack of expression in 15q11-13 gene and 70% are paternally inherited. Characteristic features are dysmorphism, behavioural problems, infantile hypotonia, short stature, hypothalamic dysfunction, hyperphagia and morbid obesity. The long-term morbidity and mortality depend on hypothalamic dysfunction and obesity. While multidisciplinary care is essential, growth hormone (GH) is a recognized...

Introduction: Primary hypogonadism is stated as one of major features in patients with Turner Syndrome (TS), however it is not a constant finding. Variable markers of ovaries failure in TS patients are still missing. The present study aimed to evaluate the usefulness of atymullerian hormone and inhibin B assessment in predicting spontaneous puberty in patients with TS.Methods: The study included 35 TS patients. Gonadal a...

Background: One of the speculated causes of the decreasing age of onset of type 1 diabetes is the increase in body weight in children. This so-called accelerator hypothesis is, however, controversial. The aim of the study was to test whether younger age of type 1 diabetes onset is associated with higher BMI-SDS at the time of diagnosis.Methods: Retrospective data analysis from medical records of all patients und...

Background: Pseudohypoparathyroidism type Ib (PHP-Ib) is due to a maternal loss of GNAS exon A/B methylation and leads to decreased expression of the stimulatory G protein (Gsα) in specific tissues. Evidence suggests an increased incidence of imprinting disorders in children conceived by Assisted Reproductive Technologies (ART). Nevertheless, no associations between ART and PHP – Ib have been found to date.Clinical case: 7.4-years-old male with...

Background: The link between obesity and dysregulation of adipocytokines, inflammatory cytokines, and oxidative status has been found to underline the pathogenesis of obesity-related complications, such as cardiovascular disease and type 2 diabetes.Objective and hypotheses: The objectives were i) to evaluate the effect of a group-based lifestyle modification program on adipocytokines, inflammatory cytokines, oxidative status, and brachial-ankle pulse wav...

Background: The combination of type 1 diabetes mellitus (T1DM) and GH deficiency is uncommon. In a previous study (1) we found that in children with T1DM and GHD with adequate adaptation of insulin dosage, the metabolic control of T1DM did not worsen during GH treatment. However, decreased catch-up growth was observed and no data on GH dose was available.Objective: To analyse first year treatment growth response and GH dosage in prepubertal patients with...

Background: Cardiovascular disease (CVD) is the major cause of mortality in diabetes mellitus type 1 (T1DM). Dyslipidemia will increase this risk. Several guidelines have been published, how to treat dyslipidemia in T1DM, yet some studies have shown that the number of patients who are treated according to these guidelines is low.Objective and hypotheses: To investigate the frequency of dyslipidemia in children and adolescents with T1DM and if they are tr...

Background: Granulosa cell tumors (GCT) originate from sex cord/stromal tissue in the gonad. They are typically located in an ovary, but extra-gonadal localisation exists. These tumors are extremely rare in children and no systematic review has been published. The objective of this systematic review is to examine the following questions: What is the clinical picture of girls with a GCT? How are these patients treated and what is their prognosis?<p class="a...

Glutamic acid decarboxylase (GAD) is the enzyme that catalyzes the conversion of L-glutamat into GABA, one of the classical neurotransmitters with neuroinhibitory function. GAD is present in GABAergic neurons and in pancreatic beta cells. It is remarkable that Anti-GAD antibody(Anti-GADab) can have different disease manifestations, i.e., Type 1 diabetes mellitus (T1DM), Stiff-Person Syndrome, limbic encephalitis (LE), epilepsy. Cooccurence of T1DM and LE is reported in the lit...