ESPE Abstracts

A 16-year-old boy was admitted to the Emergency Department for a painless laterocervical swelling, dysphagia and an ultrasound suspect of thyroiditis. On examination he presented facial asymmetry due to maxillary bones hypoplasia and facial nerve palsy of recent onset. There was also a history of hearing loss, hypospadias, Arnold-Chiari malformation and vertebral defects according to a clinical phenotype of Goldenhar Syndrome (GHS). Blood exams showed TSH 7.46 μU/ml (0.68-4...

Background: Pain represents one of the most stressful experiences for children undergoing medical therapies (Kortesluoma, 2008), but is under represented in literature for what concerns pediatric endocrinology. Children consider Injections one of the most painful, frighteningand distressing procedures (Fassler, 1985). The treatment for patients with Growth Hormone Deficiency requires daily subcutaneous injection, performed by parents or patients themselves. Th...

Background: Neonatal hypocalcemia is a common disorder, occurring more often in premature, low birth weight and asphyxiated infants, as in infants born to mothers with diabetes. Nevertheless its aetiology is heterogeneous ranging from iatrogenic, idiopathic and inherited metabolic abnormalities. Among these, Autosomal Dominant Hypocalcemia (ADH) is a rare syndrome characterized by the presence of inappropriately low concentration of circulating parathyroid hor...

Background: Vitamin-D-dependent rickets 1A (VDDR-1A) is a extremely rare, autosomic recessive genetic form of rickets caused by a defect in vitamin D 1α-hydroxylase enzyme which leads to low levels of 1,25-(OH) vitamin D.Herein, we report two Moroccan sisters R.E. and N.E. (respectively 3 and 15 months old), born from consanguineous parents, who presented with psychomotor retardation and failure to thrive.<str...

Craniopharyngioma is a rare, embryonic malformation of the sellar/parasellar region with low histological grade. In childhood-onset craniopharyngioma (CoCR), endocrine dysfunctions, severe obesity and metabolic syndrome (MetS), neurological impairment and reduced quality of life have been described as consequences of both localization and treatment. To characterize a population with CoCR and to correlate endocrine/metabolic sequelae with different surgery approach we performed...

Background: Increasing incidence of pediatric obesity has been observed worldwide. Metabolic syndrome, characterized by visceral obesity, dyslipidemia, hypertension and impaired glucose metabolism, is associated with obesity.Objective and hypotheses: To evaluate early ocular signs of hypertension by retinography in a cohort of overweight (BMI>85th)/obese (BMI>95th) children, in order to define the prevalence of retinal alterations and characteriz...

Background: Insulin degludec (IDeg; Tresiba®) is a novel basal insulin with an ultra-long, flat and stable action profile. In adults, it provides a more consistent glucose-lowering effect and lower rates of hypoglycaemia than glargine (IGlar). Data on children and adolescents are scarce.Objective and hypotheses: To assess efficacy of IDeg among children and adolescents affected by type 1 diabetes (T1DM) previously on IGlar.Met...

Background: The use of international or local growth charts for the definition of pediatric obesity is still debated. Inappropriate reference standards may lead to under/over-estimation of the prevalence and consequently of the number of patients to be included in diagnostic work-up.Objective and hypotheses: To define the differences between patients considered obese according to either CDC or Italian growth charts.Method: A single...

Background: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases associated with an increase of inflammatory cytokines that may to influence child growth. However this is already known, to date auxological data published of JIA patients during biologic treatment are incomplete and very heterogeneous.Objective and hypotheses: To evaluate the auxological features in a selected cohort of patients with JIA treated with biologic drugs....

Background: Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue. Cardinal features affect cardiovascular system, eyes and skeleton. It is caused by mutations of FBN1 gene, which encodes the extracellular matrix protein fibrillin 1. The improper activation of TGFβ, due to defective fibrillin-1, is the pathophysiological mechanism. The altered modulation leads to overgrowth of long bones (disproportionate stature) and altered bone morphology.<p ...