ESPE Abstracts

Background: Mild TSH elevations are frequently observed in obese patients, in the absence of any detectable thyroid disease.Aims and objective: To evaluate possible causes for the raised TSH levels and to verify possible biochemical and clinical consequences of this condition.Methods: We evaluated 779 (325 males/454 females) obese children, chronological age 14.38±2.56 (range 5.25 to 18.50), height SDS 0.27±1.04 (range &#...

Introduction: Central diabetes insipidus (CDI) is a rare disorder in children. The etiology of CDI in childhood is heterogeneous: tumors or surgery in the hypothalamic-pituitary region, head trauma, vascular and inflammatory diseases. Neuroimaging plays an important role in the differential diagnosis of CDI in children and adolescents. The MRI may detect brain malformations, but also is the gold standard when evaluating the sellar-suprasellar region in CDI.</p...

Introduction: Diabetic ketoacidosis (DKA) is a potentially fatal hyperglycemic emergency primarily associated with type 1 diabetes mellitus (T1D). The association between DKA and severe hypertriglyceridemia has already been previously discussed with a prevalence ranging between 7.1%-25%, with pancreatitis present in the majority of cases. Epidemiological data in the pediatric age are scarce and not well established. Its etiology is not yet fully known. The &qu...

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) are closely linked to the European Reference Networks on Rare Bone Diseases (ERN BOND) and Rare Endocrine Conditions (Endo-ERN) and with its registry EuRRECa. It is open to all professionals involved in the care of individuals with rare bone and mineral conditions. EuRR-Bone offers an electronic reporting tool (e-REC) for capturing newly encountered cases without collecting ...

Background: Monogenic diabetes represents a group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction in the number of beta cells. Despite the classification of monogenic diabetes according to age of onset, with neonatal DM (<6 months of age) and maturity onset diabetes of young (MODY) (>6 months and <25 years of age); not every case can be classified into those groups.Objective and hypot...

Background: GAIA is a health service of Meyer Children Hospital composed of a multidisciplinary team specialized in the management of children victims of child abuse. Sexual abuse occurs when a child is engaged in sexual activities that cannot comprehend, for which the child is developmentally unprepared and cannot give consent, and/or that violate the law or social taboos of society. The sexual activities may include all forms of oral-genital, genital, or anal contact by or t...

Background: Hypoglycemia in the neonate occurs in approximately one to five per 1000 live births. Common causes may be due to sepsis, IUGR or LGA. Rarer causes are congenital hyperinsulinism, panhypopituitarism, GHD, cortisol deficiency, insulinoma, insulin-receptor stimulating antibodies, BWS, and congenital disorders of glycosylation. We present a case of hypoglycemia in a neonate secondary to intraductal papillary mucinous neoplasm of the pancreas (IPMN). IPMN was first rep...

Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.Objective: To determine the extent of engagement in registries of Endo-ERN members.<p cl...

Background: Hypophysitis is a rare inflammatory condition of the pituitary that can mimic a neoplastic lesion. Histopathology subtypes include lymphocytic, granulomatous, xanthomatous, plasmacytic or a mixed picture. Among these, xanthomatous hypophysitis (XH) is the least common with an unknown aetiology. Unlike lymphocytic hypophysitis, which is believed to be autoimmune in origin, XH is rarely reported to be associated with other autoimmune diseases and res...

Introduction: Autoimmune polyendocrinopathy syndrome (APS) is an inherited rare autosomal recessive disorder caused by mutations of the AIRE (autoimmune regulator) gene with organ-specific autoimmune destruction of several, mostly endocrine. APS patients may develop autoimmune enteropathies and other intestinal dysfunctions.Aim: We describe a case of eosinophilic ascites in a nine-year-old girl with APS.<p c...