hrp0082fc3.1 | Diabetes | ESPE2014

High Mobility Group Box-1 Serum Concentrations Increase at Onset of Diabetes in Cystic Fibrosis Patients

Montanini Luisa , Smerieri Arianna , Pisi Giovanna , Giardino Ida , Ziveri Maria Angela , d'Apolito Maria , Cesari Silvia , Spaggiari Cinzia , Merli Silvia , Bernasconi Sergio , Street Maria E

Background: The DNA-binding High Mobility Group Box-1 (HMGB1) is an intracellular gene regulator that can be secreted also in response to inflammatory mediators, including interleukins, binding subsequently to both RAGE and Toll-like receptors forming a self-reinforcing inflammatory circle. Cystic fibrosis (CF) is a condition characterized by chronic inflammation. Elevated serum HMGB1 concentrations were described in serum of obese children and to be associated with the metabo...

hrp0082p2-d3-360 | Diabetes (2) | ESPE2014

‘My Diabetes’ Application for Android Devices as a Diabetes Management Tool

Ballester Maria Jose , Santillana Luis Alberto , Varvanov Rossen , Buch-Gasz Katarzyna , Gasz Adam , Sanchez Maria Jose , Lopez Carmen Maria , Martin Elena , Palomo Enrique

Introduction: A fundamental element in the successful diabetes management is the education of patients. Modern technology opens new horizons and provides new tools in empowering patients in their learning process.Objectives: Presentation, evaluation and critical medical review of ‘My Diabetes’ application whose Spanish version has been studied, reviewed and analysed in detail by our endocrinology unit and D-parents. Provide insight into its pot...

hrp0084p2-539 | Puberty | ESPE2015

GnRH Infusion in Females with Hypogonadotropic Hypogonadism

Freire Analia , Arcari Andrea , Grinspon Romina , Ballerini Maria Gabriela , Sanguineti Nora , Bergada Ignacio , Escobar Maria Eugenia , Ropelato Maria Gabriela , Gryngarten Mirta

Background: Hypogonadotropic hypogonadism (HH) in females is an uncommon and heterogeneous condition. There is little data regarding biochemical profile of gonadotropins to further substantiate the diagnosis.Objective: To evaluate the gonadotropaic secretion profile after GnRH infusion in a female cohort diagnosed with HH.Patients and methods: GnRH iv infusion test (0–120 min) were performed in 17 patients (17.5±2.3 years...

hrp0084p3-821 | Endocrine Oncology | ESPE2015

Primary Hypogonadism after Haematopoietic Stem Cell Transplant in Paediatric Patients with Cancer

Alemany Maria Del Carmen De Mingo , Orti Raquel Segovia , Macian Francisca Moreno , Carinena Sara Leon , Moreno Maria Del Mar Andres , Navarro Jose Maria Fernandez

Background: Gonadal function is altered up to 25% in patients who suffered cancer in childhood. Cryopreservation of ovarian tissue (COT) is an option for preserving fertility.Aims and objective: To establish the prevalence of primary hypogonadism (PH) in children with cancer after hematopoietic cell transplantation (HCT). To analyse the variables that predict progression to PH.Methods: Retrospective cohort study. Patients aged 0 to...

hrp0084p3-883 | Fat | ESPE2015

Investigating Predisposing Factors for Childhood Obesity

Magana Maria , Routsi Kleopatra , Zyga Sofia , Panoutsopoulos George , Ioannidis Anastasios , Tsironi Maria , Pistikou Anna-Maria , Kougioumtzi-Dimoliani Dafni-Eleni , Kolovos Petros , Gil Andrea Paola Rojas

Background: Childhood obesity is considered to be an epidemic in developed countries that can negatively affect children’s health and psychology.Aims and objectives: To investigate the nutritional and environmental factors that lead to the presence of childhood obesity and its complications.Methods: A total of 949 students, 3–12 years old, living in Sparta–Greece, have participated in our research. Their lifestyle an...

hrp0094p1-108 | Adrenal B | ESPE2021

Circadian rhythm of cortisol in saliva in obese children with clinical signs of hypercortisolism

Gabriela Ballerini Maria , Arcari Andrea Josefina , Brenzoni Luciana , Veronica Freire Analia , Eugenia Rodriguez Maria , Amaro Andrea , Bravlavsky Debora , Maggioni Irina , Keselman Ana , Bergada Ignacio , Gabriela Ropelato Maria ,

Due to the increase in prevalence of childhood obesity, more obese children are referred to the endocrinologist for the hypothalamus-hypophysis-adrenal axis assessment. The circadian rhythm (CR) of cortisol in saliva (SAF) may constitute a non-invasive, first line test to exclude hypercortisolism on obese children.Aim: To evaluate possible disturbances of CR of SAF in obese children with clinical signs of hypercortisolism.<p class="a...

hrp0094p2-261 | Growth hormone and IGFs | ESPE2021

Increased height and IGF1 serum levels in children with non-neurofibromatosis type 1 gliomas

Clement Florencia , Castro Sebastian , Dech Gaston , Martin Ayelen , Celia Fernandez Maria , Gabriela Ropelato Maria , Bergada Ignacio , Gabriela Ballerini Maria , Pennisi Patricia ,

Introduction: Gliomas are the most common solid tumours during childhood. In children with neurofibromatosis Type 1 (NF1) and optic pathway glioma (OPG), growth hormone excess has been described. However, this phenomenon has not been reported in children with OPG without NF1. We aimed to describe the growth and IGFs/IGFBP3 levels in a large cohort of paediatric patients with non-NF1- associated central nervous system (CNS) tumours.Method...

hrp0098p3-134 | GH and IGFs | ESPE2024

Beyond the phenotype. Report of 3 patients with non-typical Noonan Syndrome (NS)

Plomer Paula , Perez Garrido Natalia , Cesar Ramirez Pablo , Marino Roxana , Jimena Diaz Maria , Gabriela Obregón Maria , Gil Silvia , Ciaccio Marta , Isabel Di Palma Maria

Introduction: NS is a relative frequent cause of short stature (ST) in pediatrics and its diagnosis is based on a combination of typical facial features, ST, chest wall defects, cardiac defects, developmental delay, cryptorchidism, lymphatic dysplasia, and family history (“Van Der Burgt Criteria”, revised 2007). Around 50% of NS patients presents a pathogenic variant in the PTPN11 gene. The overlap with other conditions, phenotypic changes...

hrp0095fc3.4 | Early Life and Multisystem Endocrinology | ESPE2022

A common polymorphism in the human P450 reductase gene (POR) causes defective steroid and drug metabolism due to protein instability

Rojas Velazquez Maria Natalia , Noebauer Mathias , Pandey Amit V

Cytochrome P450 oxidoreductase (POR) is the obligatory redox partner of steroid and drug-metabolizing cytochrome P450s located in the endoplasmic reticulum. Mutations in POR cause a broad range of disorders like congenital adrenal hyperplasia that may resemble bone malformations resembling Antley-Bixler syndrome. Genome sequencing studies have revealed the existence of a POR missense variant P228. We aimed to determine the detailed functional impact of POR variant P228L for it...

hrp0095p1-230 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Cleidocranial Dysplasia: a 3 Generations Family with a Novel Mutation, and Growth Hormone treatment

Soto-Maior Costa Maria , Carneiro Rita , Galhardo Júlia

Background: Cleidocranial dysplasia (CCD) is a very rare dominantly inherited autosomal bone disorder mainly characterized by hypoplasia or aplasia of clavicles, failure of cranial suture closure, dental anomalies, short stature, and other changes in skeletal patterning and growth. Heterozygous loss-of-function mutations cause the majority of the abnormalities in the run-related transcription factor 2 gene (RUNX2). This gene is located on chromosome 6p21 and i...