ESPE Abstracts

Introduction: Lipid disorders are a common complication of anticancer therapy. These disorders may be included in both the metabolic syndrome or also may be associated with increased risk of cardiovascular disease. The aim of our study is to evaluate lipid profile in children after anticancer treatment.Materials and methods: Study group consisted of 44 patients (aged 3.25–16 years) with solid tumors, at least one year after cessation of anticancer t...

Background: Severe GH deficiency (GHD) is associated with significant body composition abnormalities. However there is no data assessing initial body composition parameters in the children with partial GHD.Objective and hypotheses: Study objective was initial body composition assessment in the short stature children diagnosed for GHD.Method: 54 consecutively diagnosed for GHD short statured children (40 boys) in the mean age 10.83&...

Background: The incidence of gonadal tumor development varies significantly between subsets of patients with disorder of sex development (DSD). In some female patients with Y chromosome too early gonadectomy is perceived as overtreatment.Objective and hypotheses: The aim of the study was to analyze the gonadal tumor incidence in DSD female patients with 45,X/46,XY or 46,XY.Method: 15 patients, managed at single institution between ...

Key words: Primary hypoaldosteronism, aldosterone synthase deficiency, salt-wasting, failure to thrive, CYP11B2 gene mutationIntroduction: Aldosterone synthase deficiency is a rare autosomal recessive inherited disorder. The patients carry mutations in the CYP11B2 gene. It is primary hypoaldosteronism presented in early childhood with electrolyte abnormalities (hyponatremia, hyperkalemia, and metabolic ...

Background: Lipodystrophy syndromes comprise a large group of extremely rare diseases characterized by loss or dysfunction of adipose tissue. Due to their extreme rarity and variability, research in the field of lipodystrophy is difficult for single centres warranting larger co-operations.Methods: Therefore, the European Consortium of Lipodystrophies decided to found an international registry in 2016. This registry is ba...

Background: Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is characterized by arginine vasopressin (AVP) deficiency resulting from mutations in the AVP-NPII genePatients and Methods: We analyzed AVP-NPII gene in 13 kindreds with familial NDIAim: To describe the clinical and molecular features of Italian kindreds with adNDIResults</str...

Background: DCA 2000 is still a very popular device to determine HbA1c levels in diabetes practices through a finger stick. It allows clinicians to give immediate feedback to patients and to make changes in diabetes management during the three-monthly assessment.Objective and hypotheses: To compare HbA1c values measured with DCA 2000 with corresponding values measured with IFCC (considered as the reference method) in a single paediatric centre, to assess...

Background: According to international guidelines Prader-Willi children during GH treatment must be closely monitored by polysomnography, ENT evaluation and IGF1 levels.Objective and hypotheses: The study aims to determine whether the modulation of GH therapy in children and adolescents with Prader-Willi Syndrome with a specific decisional score (POI score; Salvatoni A., Horm Res Paediatr. 2012) changes and to what extent the results of the therapy.<...

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder among women of reproductive age and is characterised by chronic low-grade inflammation, ovulatory dysfunction and hyperandrogenism, and often by insulin resistance. The IGF system is involved in glucose metabolism regulation and is altered in chronic inflammation where both IGF-I and –II can be reduced. We previously described increased HMGB1 content in follicular fluid (FF) in P...

Elevated chemerin level is observed in obese patients with metabolic syndrome and arterial hypertension but it is not known if measurement of this hormone have any prognostic value before the occurrence of clinically overt complications of obesity. The aim of the study was to investigate the relationship between serum chemerin level and 24h blood pressure monitoring (ABPM), and intima media thickness in obese children.Methods: The study ...