hrp0089p2-p154 | Fat, Metabolism and Obesity P2 | ESPE2018

Hair Cortisol Concentrations in Overweight and Obese Children and Adolescents

Genitsaridi Sofia , Karampatsou Sofia , Papageorgiou Ifigeneia , Mantzou Aimilia , Paltoglou Georgios , Kourkouti Christie , Papathanasiou Chryssanthi , Kassari Penio , Nicolaides Nicolas C , Charmandari Evangelia

Background: Obesity in childhood and adolescence represents a major health problem of our century that has reached epidemic proportions globally during the last decades. In obese subjects, a relatively high cortisol output in urine has been observed compared to nonobese individuals. However, cortisol concentrations in blood, saliva, and urine in association with obesity have not been consistent across studies. Hair cortisol concentrations (HCC) determined in scalp hair provide...

hrp0095p1-80 | Fat, Metabolism and Obesity | ESPE2022

Obesity and overweight increased in pre-school Swedish children during the COVID-19 pandemic

Holmgren Anton , Nejat Sahar , Edvinsson Sollander Sofia , Durbeej Natalie , Fäldt Anna

Background: The COVID-19 pandemic has had wide effects on child health globally. Increased prevalence of childhood obesity has been observed during the pandemic. The absence of a formal societal lockdown during the pandemic, made Sweden stand out compared to other countries. Several studies have shown increases in obesity in children during the COVID-19 pandemic. These studies mainly focused on school age children and adolescents in countries that underwent pe...

hrp0095p1-481 | Fat, Metabolism and Obesity | ESPE2022

Non-traditional cardiometabolic risk factors in obese children and adolescents with Metabolic Syndrome

Tragomalou Athanasia , Paltoglou George , Tsitsiloni Ourania , Loukopoulou Sofia , Binou Maria , Ramouzi Eleni , Kassari Penio , Charmandari Evangelia

Background: The prevalence of obesity in childhood has increased dramatically during the last decades. Dyslipidemia, hypertension and insulin resistance – all components of the metabolic syndrome (MS) and well-known cardiometabolic risk factors – predispose to the development of inflammation and premature atherosclerotic cardiovascular disease in childhood.Aim: To determine “non- traditional” card...

hrp0095p1-541 | Multisystem Endocrine Disorders | ESPE2022

Severe Systemic Pseudohypoaldosteronism Type 1: 10 years of evolution

Luísa Carvalho Ana , Miguel Gomes Maria , Martins Sofia , Marques Olinda , Antunes Ana

Background: Type 1 pseudohypoaldosteronism (PHA1) is a rare syndrome characterized by unresponsiveness to aldosterone. Diagnosis is established by high levels of aldosterone and plasma renin activity, associated with findings of hypoaldosteronism (hyponatremia, hyperkalemia and metabolic acidosis). When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease and the mortality rate is high, especially in the neonatal period....

hrp0095p1-189 | Thyroid | ESPE2022

Resistance to Thyroid Hormone β in an infant with a novel de novo mutation of the THRB gene

Sertedaki Amalia , Dolianiti Maria , Sakka Sofia , Siahanidou Sultana , Kanaka-Gantenbein Christina

Introduction: Resistance to Thyroid Hormone (RTH) is a clinical syndrome characterized by impaired end-organ responsiveness to Thyroid Hormone (TH). The cardinal features of this syndrome are elevated serum levels of free THs with normal or high TSH, often with goiter and no clear symptoms of thyrotoxicosis. Mutations in the Thyroid Hormone Receptor beta (THRB) gene constitute the most frequent cause of RTH, defined as RTHβ.<p class="abstext"...

hrp0095p2-177 | Growth and Syndromes | ESPE2022

Effects of Somatropin treatment in different groups of patients with indication for replacement therapy: isolated growth hormone deficiency, small for gestational age, Turner syndrome and Prader-Willi syndrome

Afonso Nuno , Luísa Carvalho Ana , Martins Sofia , Antunes Ana , Miguel Gomes Maria

Introduction: Somatropin has been the standard treatment for Growth hormone deficiency (GHD) since 1985. Nowadays, has been approved for the treatment of other diseases, as: Small for gestational age (SGA), Turner syndrome (TS) and Prader-Willi syndrome (PWS).Aims: Assess the efficacy of somatropin in children followed in a tertiary Hospital, at 12 and 24 months of treatment, and to compare the results based on the patie...

hrp0092p1-432 | Thyroid (2) | ESPE2019

Levothyroxine Effect on Thyroid Volume in Children with Autoimmune Hashimoto Thyroiditis (AHT) Presenting Subclinical (SH) or Overt (Oh) Hypothyroidism

Leka-Emiri Sofia , Petrou Vassilios , Evangelopoulou Cathrine , Vakaki Marina , Fotinou Aspasia , Vlachopapadopoulou Elpis , Michalacos Stefanos

Objectives: Assess thyroid volume in relation to TSH and FT4 at diagnosis of AHT and 2.9 years of follow up in children with SH or OH.Methods: wo hundred one children (155 girls) with AHT were divided according to TSH and FT4 levels [SH-FT4 >1.0 ng/dl: Group 1: TSH: 5-7.5 mU/l, Group 2: TSH: >7.5 mU/l, OH: Group 3: TSH>7.5 mU/l and FT4 ≤1.0ng/dl]. Mean L-T4 dose is reported in µg/Kg/day. Thyroid...

hrp0092p2-251 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

3β-HSD2 Deficiency Due to Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and a Frameshift Deletion (p.Lys273ArgFs*7) in an Under-Virilized Infant Male with Salt Wasting

Leka-Emiri Sofia , Taibi Ludmia , Fotinou Aspasia , Vlachopapadopoulou Elpis , Michalacos Stefanos , de Roux Nicolas

Objectives: To describe clinical, hormonal and genetic findings of an under-virilized infant male, 13 month old, of afghani origin, presented at the emergency department with salt-wasting adrenal crisis.Case report: The patient, a 13 month old male infant, presented at the emergency department with complaints of vomiting and fever. Physical examination was significant for severe dehydration along with perineal hypospadia...

hrp0092p3-318 | Late Breaking Abstracts | ESPE2019

Novel Mutation in HNF4-Alpha Gene and Reclassification of Diabetes in a Family

Miguel Gomes Maria , Lemos Manuel C. , Marques Olinda , Martins Sofia , Antunes Ana

11-year-old female, admitted in the emergency room due to postprandial hyperglycemia (350 mg/dL) in her father´s glucometer without ketosis or acidosis. She referred one-month evolution of mild symptoms, as polydipsia, polyuria, sporadic abdominal pain and nocturia.She was the first child of non-consanguineous parents, born full term at vaginal delivery with a birth weight of 3760g (90th percentile). Since 5-years-old her weight was betwe...

hrp0089fc7.1 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Expression and Localisation of Insulin, Glucagon, Amylin, Pancreatic Polypeptide and PDX-1 in Pancreatic Tissue of Children with Congenital Hyperinsulinism

Guemes Maria , Rahman Sofia , Solanky Nita , Gilbert Clare , Morgan Kate , Shah Pratik , Hussain Khalid

Backgound: There is insufficient knowledge about the characterisation of insulin, glucagon, amylin, pancreatic polypeptide (PP) and Pancreas/Duodenum Homeobox Protein 1 (PDX-1) in pancreatic tissue of children with diffuse (DCHI) and focal (FCHI) congenital hyperinsulinism (CHI).Objective(s): To understand the expression profile and localisation of insulin, glucagon, amylin, PP and PDX-1 in pancreatic tissue of children with DCHI and FCHI.<p class="a...