hrp0089rfc6.6 | Fat, Metabolism and Obesity | ESPE2018

Effects of Cherry’s Extract on Increased Osteclastogenesis in Obese Children

Faienza Maria Felicia , Corbo Filomena , Carocci Alessia , Catalano Alessia , Piacente Laura , Clodoveo Maria Lisa , Bortolotti Sara , Storlino Giuseppina , Colucci Silvia , Grano Maria , D'Amato Gabriele , Brunetti Giacomina

The accumulation of adipose tissue, especially visceral fat, represents a risk factor for reduced bone mineral density and spontaneous fractures. Several mechanisms have been proposed to explain the complex relationship between adipose tissue and bone. Obesity is associated with the production of inflammatory cytokines both by adipocytes and immune cells which may stimulate bone resorption and reduce bone strength. Studies in vitro and in vivo have reported t...

hrp0089p1-p025 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Intrauterine Growth Restriction, Antenatal Steroids, Gestational Age and Breast Feeding Influence Bone Health in Prepubertal Children Born Preterm

Iorgi Natascia Di , Calcagno Annalisa , Diana Paola , Notarnicola Sara , Allegri Anna Maria Elsa , Napoli Flavia , Cangemi Giuliana , Calevo Mariagrazia , Ramenghi Luca , Maghnie Mohamad

Objectives: To assess the long-term impact of prematurity on bone and body composition by using Dual-energy X-ray absorptiometry (DXA).Methods: DXA scans were performed in 100 preterm (PT) (n=42F, n=58M, mean weeks’gestation 31.5±2.6; range 26−36) and 51 born at term (BT) healthy infants (n=28F, n=23M). DXA measures of total body and lumbar spine mineral density (TB/L1-L4 BMD, g/cm2 and Z...

hrp0089p3-p251 | Growth & Syndromes P3 | ESPE2018

Mosaicism 47XXX/45X0, a Case Report

Pinto Renata Machado , Duarte Sabrina Sara Moreira , Cunha Damiana Miriam da Cruz e , Ribeiro Cristiano Luiz , Silva Claudio Carlos da , Cruz Aparecido Divino da , Cruz Alex Silva da

Background and Aims: Turner Syndrome (TS), 45X0, is the most common chromosomal pathology affecting females, occurring in 1:2500 to 1:5000 female infants. The typical phenotype includes short stature, gonadal dysgenesis leading to sexual infantilism, low-set ears, low rear hairlin, mamary hypertelorism, neck webbing, gothic palate, irregular rotation of the elbows, shield chest, shortening of the 4th metacarpal, low hairline, shortening of lower extremities, renal disorders a...

hrp0089p2-p343 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Clinical, Biochemical, Structural and Functional Characterization of a Novel P450 Oxidoreductase Mutation Causing Virilization in a 46,XX Patient

Camats Nuria , Benito-Sanz Sara , Parween Shaheena , Lopez-Siguero Juan-Pedro , Fernandez-Cancio Monica , Fluck Christa E , Udhane Sameer S , Kagawa Norio , Audi Laura , Pandey Amit V

Background: Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a form of congenital adrenal hyperplasia (CAH) and results in steroid-production loss from cytochrome P450 proteins. Mutations in POR cause mild to severe forms of CAH with/without bone malformation symptoms resembling Antley-Bixler syndrome. We report a novel POR Arg550Trp mutation identified in a 46,XX patient with signs of aromatase (ARO) deficiency. Child (first pregnancy) and mother pr...

hrp0089p3-p344 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

A Case Report: A Girl with 46,XY Karyotype and Disorder of Androgen Synthesis

Šuput Omladič Jasna , Bertok Sara , Žerjav Tanšek Mojca , Kovač Jernej , Battelino Tadej , Hartmann Michaela F. , Wudy Stefan A , Avbelj Stefanija Magdalena

Background: Disorders of androgen synthesis are rare causes of 46,XY disorder of sex development (DSD) that present with undervirilization or sex reversal.Objective: A history of a female adolescent with 46,XY DSD, initially suspected to have complete androgen insensitivity is presented.Methods: Patient history was obtained from the medical records. Urinary steroid profile was preformed using gas chromatography/mass spectrometry. T...

hrp0086rfc11.3 | Thyroid | ESPE2016

Germline and Somatic DICER1 Mutations in Familial Papillary Thyroid Carcinoma and Multinodular Goiter

Lumbreras Cesar , Chueca Maria Jesus , Arribas Laura , de Randamie Rajdee , Alonso Angel , Fernandez Pilar , Berrade Sara , Anda Emma , Regojo Rita Maria , Mendiola Marta , Moreno Jose Carlos

Background: The inheritable component of familial Papillary Thyroid Cancer (fPTC) was recently attributed to monogenic defects in a reduced number of genes including DICER1. DICER1 codes for a ribonuclease of the RNaseIII family essential for the biogenesis of microRNAs.Objective and hypotheses: We aimed to identify germline and/or somatic mutations in DICER1 in a familial pedigree with PTC, multinodular goiter (MNG) and other ...

hrp0086p1-p614 | Growth P1 | ESPE2016

Serum α-Klotho Levels are not Informative for the Evaluation of GH Secretion in Short Children

Elsedfy Heba , Meazza Cristina , Radetti Giorgio , Khalaf Randa I. , Pagani Sara , Sessa Nicodemo , Albertini Riccardo , De Stefano Anna Maria , Navarra Antonella , Lupi Fiorenzo , El Kholy Mohamed , Bozzola Mauro

Background: α-klotho is a transmembrane protein which can be cleaved and act as a circulating hormone. Since low α-klotho levels were found in organic GH deficiency (GHD) and high levels in acromegaly, an interaction between α-klotho, GH and linear growth has been suggested.Objective and hypotheses: We investigated the role of α-klotho protein as a reliable marker of GH secretion in short children and the factors influencing its secre...

hrp0082fc8.1 | Fat Metabolism | ESPE2014

Activation of the ER Stress Response in Cultured Human Umbilical Vein Endothelial Cells by Plasma Obtained from Prepubertal Obese Children

de Giorgis Tommaso , Di Silvestre Sara , Mohn Angelika , Di Pietro Natalia , Marcovecchio Maria Loredana , Cordone Vincenzo , Mandatori Domitilla , Chiavaroli Valentina , Bologna Giuseppina , Pandolfi Assunta , Chiarelli Francesco

Background: Childhood obesity is commonly associated with signs of endothelial dysfunction, characterized by impairment of insulin signaling and vascular NO availability. Recently both these features have been associated with endoplasmic reticulum (ER) stress, however the role of ER stress in the mechanism/s leading to vascular dysfunction in childhood obesity remains still to be established.Objective and Hypotheses: To evaluate ER stress and insulin-sti...

hrp0082p2-d3-345 | Diabetes (2) | ESPE2014

Improvement in Type 1 Diabetes Mellitus Metabolic Control: From Conventional to Functional Insulin Therapy

Serra-Caetano Joana , Ferreira Sara , Lourenco Helena , Aveiro Lina , Batista Nanci , Freitas Filomena , Simao Luisa , Cardoso Rita , Dinis Isabel , Mirante Alice

Background: Type 1 diabetes mellitus (1DM) is a common chronic disease of childhood. Treatment targets the best metabolic control in order to prevent long-term complications.Objective: To evaluate metabolic control in children and adolescents with 1DM along the years. Methods: Retrospective study including 1DM children and adolescents with more than 2 years of disease. Data were collected at 2005 and at 2012: sex, age at diagnosis, therapy in the last ye...

hrp0082p2-d3-350 | Diabetes (2) | ESPE2014

Wellbeing of Adolescents with Type 1 Diabetes: Influence of Metabolic Control and Family Factors

Vanbesien Jesse , Berlanger Laurence , Bohler Susanne , Laridaen Jolien , Gies Inge , Van Aken Sara , De Waele Kathleen , Cools Martine , Maris Ellen , Vanderfaeillie Johan , De Schepper Jean

Background: Adolescence is often a period of worse metabolic control and less wellbeing in diabetic children. We studied global (GW) and diabetic-related (DRW) wellbeing in diabetic adolescents and the influence of sex, age, ethnic origin, family composition (single- or two-parent family), family income and metabolic control.Method: 133 (71 girls, 120 autochthonous, 20 treated with CSII, 107 from a two-parent family, 68 from families with a monthly incom...