ESPE Abstracts

Background: Routine screening for Coeliac disease (CD) beyond the first year of diagnosis with Type 1 Diabetes Mellitus (T1DM) is controversial due to a paucity of high-quality evidence. The UK guidelines (NICE) only recommend screening at diagnosis with T1DM or if subsequently symptomatic; whereas the International Society for Paediatric and Adolescent Diabetes (ISPAD) recommends routine screening every 1 to 2 years.Objective and hypotheses: We hypothes...

Background: Autoimmune polyendocrine syndrome (APS) type 1 is a rare autosomal recessive disease. The classic features are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Several non-classic presentations of the disease has been described over the last few years. Authors present a case of 14-year old girl with a new serious non-classic presentation.Case presentation: Patient was diagnosed with a mucocutaneous candidiasis...

Background: Puberty is a time of hormonal changes that are associated with insulin resistance. Although insulin sensitivity is restored at the end of puberty in healthy youth, it does not resolve in obese adolescents leading to an increase of cardio metabolic disease such as type 2 diabetes. In response to an increase in insulin demand, as during pregnancy or obesity-induced insulin resistance, β-cells increase their functional mass to maintain glucose homeostasis. Howeve...

Background and Objectives: Chronic administration of synthetic glucocorticoids affects 1% of the world population and is responsible for secondary adrenal insufficiency for 40% of the patients. In pediatrics, glucocorticoid-induced adrenal insufficiency (GI-AI) diagnosis is based on the Low Dose Synacthen Test (LD-SST). Screening for glucocorticoid-induced adrenal insufficiency implies medical and economical costs due to the necessity of an intravenous line an...

Background: Children with structural hypothalamic-pituitary anomalies, e.g. ectopic posterior pituitary (EPP) with/without pituitary stalk interruption syndrome, septo-optic dysplasia (SOD), and isolated anterior pituitary aplasia/hypoplasia (AP/HP) usually have more severe GHD and better auxological outcomes with GH therapy than those with normal hypothalamic-pituitary magnetic resonance imaging findings. However, adult height data is limited.Objective:...

Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of respiratory control resulting from heterozygous polyalanine repeat expansions within the Paired-Like Homeobox 2B (PHOX2B) gene. A hypoglycaemic seizure in a 4-year-old girl with CCHS, lead to a more detailed examination of glycaemic control in a cohort of children with CCHS.Objective: To describe glucose homeostasis in children with CCHS.M...

Background: Knowing the changes of cardiovascular risk factors (CRF) in relation to weight loss would be helpful to advise overweight children and their parents and to decide whether drugs should be prescribed in addition to lifestyle intervention.Objective and hypotheses: The aim of the study was to determine the degree of overweight reduction to improve CRFs in overweight children.Method: We studied changes of blood pressure (BP)...

Background: Neonatal Cushing syndrome is a rare and severe condition, mostly associated with the McCune-Albright (MCA) syndrome. Management options include medical treatment (with ketoconazole or metyrapone resulting in 11-beta-hydroxylase blockade) and radical treatment with bilateral adrenalectomy. Spontaneous regression in late infancy has been reported.Objective and hypotheses: To report on the outcome of a 14 month-old girl with severe neonatal Cush...

Background: Boys with delayed puberty represent one of the main cause for pediatric endocrine referrals. Although the majority of them have constitutional delay of growth and puberty (CDGP), it is important to identify isolated hypogonadotropic hypogonadism (IHH) for optimal management.Objective and hypotheses: The aim of the study was to evaluate the usefulness of inhibin B and AMH as biological markers for distinguishing between CDGP and IHH.<p cla...

Background: Brain MRI is an essential tool in the diagnosis of neuroendocrine disorders and aims at detecting anatomical abnormalities and tumors. However, it may lead to the identification of unrelated or questionably related abnormalities in the hypothalamic-pituitary region and/or the rest of the brain parenchyma.Objective and hypotheses: To establish the prevalence of causal lesions on brain MRI of children evaluated for hypopituitarism, assess the f...