ESPE Abstracts

Background and Aims: A pre-clinical stage of type 1 diabetes (T1D) often precedes by many years the overt clinical symptoms. Diagnosis during this period is often difficult and is based on the presence of specific islet autoantibodies in the subject's blood. First-degree relatives of patients with T1D were tested using the 3 Screen ICA TM ELISA (RSR Ltd) for combined testing for autoantibodies to GAD65 (glutamic acid decarboxylase, 65kDa isoform), ZnT8 (z...

Introduction: Short stature is the most common symptom of Turner Syndrome (TS). The height below the 3rd percentile is an indication for recombinant human growth hormone (rhGH) treatment. TS is also associated with gonadal failure and increased risk of fracture. Spinal trabecular bone score (TBS) is a novel bone imaging tool that can offer better bone evaluation in TS.Aim: To evaluate TBS in TS, its association with rhGH...

Background: X-linked congenital adrenal hypoplasia (adrenal hypoplasia congenita, AHC) is a rare life-threating disorder due to pathogenic variants in the NR0B1 gene. It encodes DAX-1, an orphan nuclear hormone receptor, that acts as a transcription factor and is expressed in the adrenals and hypothalamus-pituitary-gonadal (HPG) axis. Therefore, apart from primary adrenal insufficiency, patients present incomplete or absent puberty and infertility due...

Background: Once-daily growth hormone (GH) therapy is an effective treatment for children with growth hormone deficiency (GHD), but compliance wanes with ongoing treatment. A once -weekly GH, somatrogon (hGH-CTP), is being developed to reduce the treatment burden of daily dosing for children and caregivers and potentially improve compliance and long-term efficacy. The impact of once-weekly somatrogon on long-term safety, local tolerability and immunogenicity w...

Therapeutic interventions in obesity in addition to the weight loss, seek to improve the profile of cytokines. It is believed that physical activity, even in the absence of significant weight loss, may favorably increase the concentration of irisin and decrease the concentration of chemerin. The aim of the study was to compare the impact of a standard lifestyle intervention (SI) with an intense intervention (II) including controlled increase of daily physical ...

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: Patients born small for gestational age (SGA) with additional syndromic features to short stature are likely to present with genetic causes.Aim: To perform a clinical and genetic-molecular investigation of a group of syndromic SGA patients without catch-up growth.Methods: We selected 118 patients born SGA [birth weight and/or length standard deviation score (SDS) ≤−2 for gestational age] without catch-up gro...