ESPE Abstracts

Introduction: Knowledge of changes in bone-mineral metabolism in patients with inflammatory bowel disease (IBD) is of particular interest, since in many patients bone metabolic disease is an epiphenomenon of the underlying pathology. Impaired bone mineralisation and diminished spinal bone mineral density (BMD) are reported in children with IBD, together with increased incidence of vertebral fracture. The short- and long-term implications of reduced BMD are especially important...

Background: Diabetes is associated with increased risk of vascular disease. In children and adolescents with type 1 diabetes (T1D), clinical manifestations of vascular complications are infrequent; however, a pro-inflammatory state and endothelial disturbance could appear early. A subclinical inflammation state result in increased plasma levels of adhesion molecules, inflammatory cytokines as tumor necrosis factor alpha (TNFα), and acute phase proteins as C-reactive prote...

Background: Cleidocranial dysplasia (CCD; MIM 119600) is a rare congenital autosomal dominant skeletal dysplasia characterized by hypoplastic or aplastic clavicles, late closure of the fontanelles, open skull sutures, dental anomalies, moderately short stature and a variety of other skeletal features. CCD is caused by mutations, deletions or duplications in the runt-related transcription factor 2 gene (RUNX2), which encodes for a protein essential for osteoblast differentiatio...

Background: The concentration and conformation of carotenoids and blood plasma in girls with Turner syndrome (TS) were observed.Objective and hypotheses: The level and conformation of blood plasma carotenoids could be used as markers of overall condition of patients. The obtained data was compared with the parameters of antioxidant status before and after 1 year of GH therapy.Method: 12 prepubertal girls (median 13.2 years) with TS...

Background: GH treatment requires regular, daily s.c. injections for very long periods of time when not virtually for a lifelong period. The mean final height attained with GH therapy is influenced by poor adherence to treatment.Objective and hypotheses: The main aim of this study was to identify non-adherent patients to GH therapy and to determine the influence of compliance in response to the treatment (IGF1 serum levels and growth velocity). We also e...

Background: AAAS is an autosomal recessive disorder characterized by adrenal insufficiency, alacrimia, achalasia and neurological symptoms. The disease-causing AAAS gene encodes for the ALADIN nuclear pore protein.Case presentation: Case 1: A girl (born to unrelated parents) presented at age 3.9 years with fatigue and hyperpigmented skin. Clinical examination was normal, clumsy gait was noted. Endocrine studies confirmed adrenal insufficiency (F=9 mg/ml,...

Background: Preterm newborns due to their immaturity, a higher incidence of mortality and increased susceptibility to iodine, are at risk of decreased thyroid function. Low levels of thyroid hormones during a critical period for the development of the central nervous system may negatively affect their psychomotor development. Screening for congenital hypothyroidism with capillary TSH is invalid for preterm babies and would require an specific thyroid function control.<p cl...

Background: X-Linked Adrenoleucodystrophy (X-ALD) is a rare neurodegenerative disorder characterised by impaired peroxisomal beta-oxidation of very long chain fatty acids (VLCFA; ≧C22) which is reduced to about 30% of control levels. Consequently, there is an accumulation of VLCFA in plasma and tissues, including the white matter of the brain, the spinal cord and adrenal cortex. It is caused by mutation in the ABCD1 gene encoding a peroxisomal transmembrane protein (ALD...

Background: Data regarding the prevalence of metabolic syndrome (MS) in Greek adolescents and the effect of school interventions are scarce.Objective and hypotheses: To study the prevalence of MS in a representative sample of Greek adolescents and evaluate the impact of a 6-month educational-behavioral intervention.Method: Cross-sectional anthropometric data ((height, weight, waist circumference (WC)), blood pressure (BP), fasting ...

Background: Optimising adherence to treatment in paediatric patients is important, since non-adherence may lead to incorrect interpretation of growth results and in the treatment course. It has been found that injection frequency is correlated with growth response and final height among children treated with rhGH.Objective and hypotheses: The main aim of this study was to evaluate IGF1 levels and growth velocity before and after a medical intervention in...