ESPE Abstracts

Preterm and low birth weight(LBW) newborns are at risk of thyroid dysfunction during a critical period for neurodevelpment and this dysfunction can be missed in congenital hypothyroidism screening program(CHSP). Consequently, reassessment of thyroid function has been promoted in neonatal units, added to CHSP.Objectives: To evaluate prevalence and risk factors of thyroid dysfunction in≤32weeksGA and/or 1500g newborn, and compare differ...

Background: Neuroendocrine tumors (NETs) represent a complex entity of neoplasm arising from different cell types of neural crest origin. They can produce and/or secrete various hormones or vasoactive substances. Usually sporadic, they can occur in association with other cancers, as part of a multiple endocrine neoplasia type 1 (MEN1), von Hippel–Lindau disease, von Recklinghausen, tuberous sclerosis.Case report: We report a case of neuroendocrine t...

Background: ROHHAD/ROHHADNET syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation with or without neural tumor - NET) – has been reported in association with cerebral venous thrombosis events, as reported also in central hypoventilation syndrome. It is not clear whether thrombotic risk represents a cause or a consequence of hypoventilation and hypothalamic dysfunction. Aim of our study was to chara...

Background: Craniopharyngioma is a non-malignant embryonic tumour in the pituitary-hypothalamic area, associated with hypothalamic obesity. Dysfunctional parasympathetic nervous system activity has been proposed as one mechanism underlying alterations in energy metabolism. Arterial spin labelling (ASL) is a non-invasive MRI technique that quantifies brain tissue perfusion as a proxy for functional activity. Here, we measure cerebral perfusion in patients with ...

Background: Craniopharyngioma is a non-malignant, embryological brain tumour in the sellar and parasellar region. Hypothalamic damage is common and accompanied by development of obesity in at least 50% of cases. Mechanisms underlying hypothalamic obesity in craniopharyngioma patients however remain unclear and treatment options are invasive and limited. This feasibility study included a novel application of functional neuroimaging, an established method in obe...

Introduction: Recombinant Growth Hormone (GH) has changed the lives of many patients with Prader-Willi Syndrome (PWS). GH treatment has beneficial effects on body composition, physical performance, cognition, psychomotor development, respiratory function and quality of life of patients with PWS. Due to the narrow therapeutic range, GH treatment is subject to strict limits. Clinicians measure serum immunoreactive Insulin-like Growth Factor 1 ('total IGF-I&#...

Background: The management of MEN1 in CYP<19 years is challenging due to its rarity, and diverse presentations of its component tumours to several adult and paediatric medical and surgical specialists. There is little high quality evidence for treatment recommendations.Aim: To ensure age- and tumour-specific paediatric and adult teams are involved in co-ordinated discussions to improve high quality care and hence survival and reduce long term morbidi...

Background: Transient Generalized Glucocorticoid Hypersensitivity (TGGH) is a rare disorder characterized by increased tissue sensitivity to glucocorticoids and compensatory hypoactivation of the hypothalamic–pituitary–adrenal (HPA) axis. The condition itself and the underlying molecular mechanisms have not been fully elucidated.Objective and hypotheses: To present the clinical manifestations, endocrinologic evaluation and molecular studies in ...

Background: Diabetic ketoacidosis (DKA), a frequent complication of type 1 diabetes (T1D), is characterized by hyperosmolar hypovolemia. The response of water-regulating hormones to DKA treatment in children is not well known. While arginine vasopressin (AVP) is thought to respond to changes in osmolality, aldosterone and atrial natriuretic peptide (ANP) are expected to respond to volume changes (dehydration and overhydration, respectively). The objective of t...

Background: Neonatal vitamin D deficiency (VDD) can result in symptomatic hypocalcemia, seizures and cardiomyopathy and has been associated with reduced bone mineralization in childhood, but is potentially preventable with antenatal cholecalciferol supplementation. Single nucleotide polymorphisms (SNP) in the vitamin D metabolism pathway are associated with serum 25-hydroxyvitamin D [25(OH)D] in adulthood. We assessed whether maternal and/or offspring SNPs in ...