hrp0092p3-280 | Late Breaking Abstracts | ESPE2019

Short, but Daily and Controlled Physical Activity of Children with Obesity has a Positive Effect on The Irisin and Chemerin Levels

Wójcik Małgorzata , Kozioł-Kozakowska Agnieszka , Januś Dominika , Furtak Aleksandra , Starzyk Jerzy

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 ...

hrp0086p1-p472 | Fat Metabolism and Obesity P1 | ESPE2016

Risk factors for Atherosclerosis after Anticancer Treatment in Childhood: The Assessment of Lipid Parameters and Indicators of Susceptibility to Atherosclerosis in a Group of Pediatric Patients after Anticancer Treatment

Połubok Joanna , Jasielska Olimpia , Gonera Aleksandra , Kozicka Marta , Sęga-Pondel Dorota , Kazanowska Bernarda , Barg Barg

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...

hrp0082p2-d3-444 | Growth Hormone (2) | ESPE2014

Baseline Body Composition of Children with Short Stature Diagnosed for GH Deficiency

Matusik Pawel , Barylak Aleksandra , Cholewka Patrycja , Klesiewicz Marta , Klos Karolina , Stasiulewicz Martyna , Cetera Maria , Malecka-Tendera Ewa

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&...

hrp0082p2-d3-497 | Endocrine Oncology | ESPE2014

Gonadal Tumor in 46,XY and 45,X/46,XY Female Patients: One Clinical Center Experience

Gawlik Aneta , Antosz Aleksandra , Kudela Grzegorz , Drosdzol-Cop Agnieszka , Zachurzok Agnieszka , Matusik Pawel , Kaminska Halla , Koszutski Tomasz , Malecka-Tendera Ewa

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 ...

hrp0097p2-217 | Adrenals and HPA Axis | ESPE2023

Primary hypoaldosteronism due to aldosterone synthase deficiency in a small for gestational age born infant

Janchevska Aleksandra , Tasic Velibor , Antonievska Simona , Bujarovska Ivana , Iliev Blagorodna , Daniloski Darko , Jordanova Olivera , Gucev Zoran , Plaseska-Karanfilska Dijana

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 ...

hrp0098p2-203 | Multisystem Endocrine Disorders | ESPE2024

Hyperthyroidism and type 1 diabetes mellitus in a girl with down syndrome

Sapundzija Felina , Sandeva Dragana , Beadini Narcize , Nonkulovski Danilo , Naunova Timovska Silvana , Jordanova Olivera , Abazi Nora , Janchevska Aleksandra

Introduction: Autoimmune endocrinopathies are associated with Down syndrome (DS), especially in pubertal female patients. Coexistence of hyperthyroidism and insulin-dependent diabetes mellitus (IDDM) is very rare in patients with DS. But, the possibility of their occurrence emphasizes the importance of annual screening.Patient and methods: An 11-year-old girl with Trisomy 21 (DS), BMI=20,7 kg/m2 and BMI z scor...

hrp0092p2-212 | Multisystem Endocrine Disorders | ESPE2019

Unusual Ovary Formation in a Girl with McCune-Albright Syndrome

Makazan Nadezhda , Orlova Elizaveta , Artemova Alla , Vladimirova Victoria , Vorontsov Aleksandr , Kareva Maria , Peterkova Valentina

McCune-Albright syndrome (MAS) is a rare disorder caused by somatic mutations in GNAS gene leading to fibrous dysplasia (FD), cafe-au-lait spots and hyperfunctioning endocrinopathies. The common feature of MAS in girls is peripheral precocious puberty (PP) with the recurrent ovary cysts. Few cases of ovary tumors have been described to date.8,5 year-old girl with MAS is closely observed in our centre since the age 4,5, when the diagnosis was est...

hrp0094fc7.3 | Fetal Endocrinology and Multisystem Disorders | ESPE2021

European Training Requirements for Competency in Paediatric Endocrinology and Diabetes 2021

Busiah Kanetee , Peet Aleksandr , Tornese Gianluca , Weintrob Naomi , Patel Leena , Hamza Rasha ,

Background: A Europe-wide training program in Paediatric Endocrinology and Diabetes (PED) was initiated by Professor Leo Van den Brande in 1976. PED was recognised as a subspecialty in 1996 by the European Board of Paediatrics (EBP), which is a section of the Union of European Medical Specialists (UEMS). UEMS aims to ensure high standards for training across Europe and the minimum requirements are set out in the European Training Requirements (ETR). The first ...

hrp0089p1-p177 | Growth & Syndromes P1 | ESPE2018

Genetic Investigation of Children with Syndromic Prenatal Onset Short Stature

Homma Thais , Freire Bruna , Ronjo Rachel , Dauber Andrew , Funari Mariana , Lerario Antonio , Arnhold Ivo , Canton Ana , Sugayama Sofia , Bertola Debora , Kim Chong , Malaquias Alexsandra , Jorge Alexander

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...

hrp0094p2-87 | Bone, growth plate and mineral metabolism | ESPE2021

A rare presentation of Dysplasia Epiphysealis Hemimelica combined with Familial Hypocalciuric Hypercalcemia – Is this association possible?

Toledo Arthur H. T. , Diesendruck Benjamin , Rodrigues Marcela , Baches Jorge Rafael , Akkari Miguel , Santili Claudio , Baratela Wagner A. R. , Goiano Ellen de Oliveira , Malaquias Alexsandra C. ,

Background: Familial Hypocalciuric Hypercalcemia (FHH) type 1 is a benign condition of hypercalcemia with autosomal dominant inheritance caused by pathogenic variants in the calcium-sensing receptor gene (CASR). CaSR plays a crucial role in the regulation of calcium balance. Inactivating mutations in CASR result in altered calcium-sensing and inappropriate parathyroid hormone (PTH) release concerning the calcium concentration. Dysplasia Epiph...