ESPE Abstracts

Cystic fibrosis related diabetes (CFRD) is one of the main complications of cystic fibrosis (CF), following inflammatory-degenerative damage of the pancreas. Aim of our study was to evaluate the effects of replacement insulin therapy in patients with cystic fibrosis complicated by overt diabetes or pre-diabetes on BMI and respiratory function. We selected a sample of 17 insulin treated patients (Group T) and a sample of 17 controls with CF but normal glucose metabolism (Group ...

Background: Polyuria and polydipsia must never be underestimated.Objective and hypotheses: A 7-year-old girl presented with polyuria, polydipsia and nocturia of 1 year duration, during which she underwent outpatient follow up with her general practitioner and urologist. No weight loss or other endocrine signs.Method: Polyuria was confirmed by water balance (120 ml/kg per 24 h), urinary osmolality (222 mmol/kg), plasma osmolality (2...

Background: Xhantogranuloma of the sellar region (XG) is a very rare brain tumor and is clinically and pathologically distinct from classical adamantinomatous craniopharyngioma, but the differential diagnosis is difficult because there are no typical neuroradiological signes. The characteristic and the outcome of XG in children remain still unclear.Objective and hypotheses: We aimed to describe a case report of XG and multiple pituitary hormone deficienc...

Background: Low birth weight is associated with cardiometabolic risk in adulthood. To date, there is no evidence of a relationship between birth length and metabolic risk.Objective and hypotheses: To evaluate the relationship between birth size and risk of metabolic syndrome (MetS) in obese children.Method: 41 obese children were studied (23 females/18 males, 13.2±1.26 years). All patients underwent anthropometric, biochemical...

Introduction: Endocan is a soluble dermatan sulfate PG (50kDa), composed by 165 amino acid core protein, that is expressed and secreted by endothelial cells of dermal microvasculature, coronary, pulmonary arteries, and capillaries from adipose tissue. It plays an important role in the pathogenesis of vascular disorders, inflammation, and neoangiogenesis. Endocan biosynthesis is upregulated by inflammatory cytokines like TNF-α,IL-1, TGF-β1, and by pro...

Introduction: Type 1 Narcolepsy is a rare pediatric condition characterized by central hypersomnia secondary to hypocretin deficiency. It can also involve the neuroendocrine axis, in particular determining obesity and central precocious puberty (CPP).Objectives: The primary aim of this study is the evaluation of endocrine and auxological aspects at diagnosis and during follow-up in children affected with T1N, in treatmen...

Background: GLUT1 deficiency syndrome (GLUT1DS) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. Clinical features comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly, and a movement disorder with ataxia, dystonia, and spasticity. While it is known that ketogenic diet may cause growth retardation, GH deficiency (GHD) may represent anot...

Achondroplasia is a rare genetic condition caused by a recurrent pathogenetic variant in the FGFR3 gene resulting in short limb skeletal dysplasia. Due to the wide-ranging anomalies associated with achondroplasia (both peculiar clinical features and complications), a multidisciplinary team is often required for ongoing care, although the nature of specialists involved differs among countries. Despite a European consensus on principles for the management of achondropla...

Background: Children born small for gestational age (SGA) are at risk for metabolic syndrome (MetS) as adults and show a higher prevalence of MetS components.Objective and hypotheses: To define the association between low birth weight and the presence of MetS in a cohort of obese Italian children and adolescents.Method: The presence of MetS was studied in a cohort of obese (BMI >90th centile) children and adolescents consisting...

Background: Children with neurofibromatosis type 1 (NF1) have an increased risk of developing optic pathway gliomas (OPGs) during childhood. Although these tumors usually have a benign course, some cases result in significant clinical symptoms, including endocrinological disorders.Objective and hypotheses: The aim of this study is to evaluate the endocrinological complications of OPGs involving the chiasm in children with NF1.Metho...