ESPE Abstracts

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...

Introduction: Glucagon-like peptide 1 (GLP-1) receptor agonists have been successfully used in adults with hypothalamic obesity, showing a BMI decrease and metabolic profile improvement. Data on GLP-1 receptor agonist treatment for children and adolescents is limited. Herein, we present a clinical case of a male adolescent treated with GLP-1 receptor agonist for hypothalamic obesity, secondary to craniopharyngioma.Case report: A 15.8 year-old boy (Height...

Background: Testicular adrenal rest tumours (TART) may develop in males with congenital adrenal hyperplasia (CAH), with a widely variable prevalence. Having no malignant features, there seems to be no need to remove them. However, these lesions may increase in size and number when exogenous hormone therapy is inadequate. Untreated, may lead to infertility and irreversible damage of the surrounding testicular tissue.Case report: We present two cases, diag...

Background: Chronic hemolytic anemias may compromise growth through multiple mechanisms. To date, no data exist on growth and body composition (BC; bone, muscle and fat mass) of children and adolescents with chronic hemolysis.Purpose: To evaluate growth and BC of patients with thalassemia intermedia (not on regular transfusions; thal-intermedia), alpha-thalassemia and congenital spherocytosis....

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: Testicular Adrenal Rest Tumours (TARTs) are benign tumours that frequently occur in male patients with congenital adrenal hyperplasia. They exhibit both testicular and adrenal characteristics, but their aetiology is unknown. Additionally, TART resembles Leydig cell tumours (LCTs), while no marker exist to discriminate between these testis tumours. GATA transcription factors play an important role in eukaryotic development and are expressed in foetal and adult adren...

Background: Obesity in childhood and adolescence represents a major health problem of our century, and accounts for a significant increase in morbidity and mortality in adulthood. In addition to the increased consumption of calories and lack of exercise, accumulating evidence suggests that childhood obesity is strongly associated with prolonged and excessive activation of the stress system.Objective and hypotheses: The aim of our study was to assess the ...

Background: POU1F1 encodes a pituitary-specific homeodomain transcription factor that is crucial for development and differentiation of anterior pituitary cell types. Mutations in this gene result in GH, TSH and prolactin (PRL) deficiencies.Objective and hypotheses: To describe a male newborn of a mother with known dominant p.R271W mutation in the POU1F1 gene.Methods: Case report with clinical follow up, endocrine investigations, n...

Background: Most children with idiopathic short stature (ISS) have a delayed bone age (BA). ISS with advanced BA is far less common. We studied three families with autosomal dominant short stature, unexplained BA acceleration, and premature growth cessation.Objective and hypotheses: To identify the genetic cause of this condition and describe its clinical spectrum.Method: Whole exome sequencing was performed in selected individuals...