ESPE Abstracts

Introduction – Scope: Childhood cancer has an impact on the neurocognitive functions of growing children and adolescents. The aim of this study, which is the first of its kind in Greece, was to examine the differences in neurocognitive abilities between children and adolescents survivors of brain tumors (BT), and survivors of other types of cancer.Method: Study participants were cancer survivors aged 7 to 15 years,...

Introduction: CPHD is characterized by GH and at least one other pituitary hormone deficiency. Mutations in genes expressed in the developing head, hypothalamus, and/or pituitary cause CPHD. To date around 30 genes have been identified to be related to CPHD, however the 85% of the cases remain with unknown aetiology. Whole Exome Sequencing (WES) enables parallel searching for pathogenic variants of CPHD in targeted known gene panels as well as the identifi...

Background and aim: Epidemiologic observations suggest that women with type 1 diabetes mellitus (T1DM) often suffer from menstrual cycle disorders. There may also be a negative association between the age of onset of T1DM and the age of menarche. Delayed menarche, in turn, may be associated with increased risk for diabetic complications. The aim of this study was to prospectively investigate pathologic manifestations of reproductive function in young women with T1DM and their ...

Background: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD). It is characterized by early onset, autosomal dominant inheritance and a defect in β cell insulin secretion. To date 14 different MODY subtypes have been reported each one with a distinct genetic aetiology. However four are the most common subtypes, namely MODY 1 (HNF4A), MODY2 (GCK), MODY3 (HNF1A), MODY...

Background: There are studies supporting the seasonality of diabetes according to date of diagnosis and date of birth, with most T1D children being diagnosed in fall and winter and most of them been born in the same period. That is in concordance with previously published data from 1978 to 2008 in our country.Objective and hypotheses: To assess whether there is a seasonal variation of diabetes onset according to date of diagnosis and date of birth of inc...

Background: Diabetic Ketoacidosis (DKA) in newly diagnosed children with Type 1 Diabetes (T1D) has been associated in previous studies with several factors, such as age or season of diagnosis.Objective and hypotheses: The aim of the present study was to assess the impact of age, gender, birth order and seasonality in DKA occurrence in newly diagnosed T1D pediatric patients.Method: Data of children aged 0–14 years newly diagnos...

Background: Since the initiation of neonatal screening-programs for congenital hypothyroidism (CH) in the 1970’s, an increase in the incidence of CH has been observed. This change has been attributed to the gradual use of lower TSH cut-offs that lead to the detection of milder cases of CH. Based on currently used screening cut-offs, CH occurs in approximately 1:2 000 to 1:4 000 newborns, varying by geographic location and ethnicity. A female predominance, approaching a 2:...

Background and Purpose: Previous studies have shown that autoimmunity in patients with type 1 diabetes mellitus (T1DM) begins long before the onset of clinical manifestations. Viruses, such as Coxsackie virus, play an important role in the complex and multifactorial etiology of T1DM. Human hair grows by 1 cm per month. A variety of endogenous molecules such as proteins, metabolites and hormones are incorporated during hair growth, so that a hair sample can pro...

Background/aim: Congenital hyperinsulinism (CHI) is a group of genetic disorders characterized by impaired insulin secretion, resulting in recurrent hypoglycemia. CHI is the most common cause of severe and persistent hypoglycemia in infancy and childhood that is associated with an increased risk of seizures, developmental delay and permanent brain damage, with lifelong neurodisability if treatment is delayed. The incidence of CHI is estimated to be approximate...

Introduction: ROHHAD syndrome (Rapid-onset Obesity with Hypoventilation, hypothalamic and autonomic dysregulation) is a rare and complex disease with potential fatal outcome. To this day there have been 158 cases reported in the literature while whole exome sequencing has not yet revealed any responsible genes. It usually presents at the age of 2-4 years and the diagnosis is based on the following criteria: 1) rapidly progressive obesity that develops at the a...