hrp0092lb-16 | Late Breaking Posters | ESPE2019

Associations Between Pituitary Abnormalities and Treatment Response in Children with Growth Hormone Deficiency. First Multicenter Study in Portugal

Diamantino Catarina , Sofia Simões Ana , Borges Catarina , Costa Carla , Pereira Carla , Vieira Paula , Luísa Leite Ana , Cristina Monteiro Ana , Freitas Joana , Martins Sandrina , Teresa Bernardo Maria , Fonseca Marcelo , Mirante Alice

Background/Aims: Magnetic resonance imaging (MRI) is used to investigate the etiology of growth hormone deficiency (GHD). There is a close relationship between structural changes in the pituitary gland and clinical status.We aimed to investigate the relationship between MRI findings and clinical symptoms and treatment response in children with GHD.Methods: The study was conducted in nine Department...

hrp0092p3-315 | Late Breaking Abstracts | ESPE2019

Associations between Pituitary Abnormalities and Treatment Response in Children with Growth Hormone Deficiency. First Multicenter Study in Portugal

Diamantino Catarina , Simões Ana Sofia , Borges Catarina , Costa Carla , Pereira Carla , Vieira Paula , Leite Ana Luísa , Monteiro Ana Cristina , Freitas Joana , Martins Sandrina , Bernardo Maria Teresa , Fonseca Marcelo , Mirante Alice

Background/Aims: Magnetic resonance imaging (MRI) is used to investigate the etiology of growth hormone deficiency (GHD). There is a close relationship between structural changes in the pituitary gland and clinical status.We aimed to investigate the relationship between MRI findings and clinical symptoms and treatment response in children with GHD.Methods: The study was conducted in nine Department...

hrp0089p2-p051 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Bone Marrow Adiposity and IGF System in Obese Children and Adolescents

Darrigo Emiliana , Sader Soraya , Siena Thais , Nogueira-Barbosa Marcelo , Elias Jr. Jorge , Custodio Rodrigo , Ferraz Ivan , Liberatore Jr. Raphael , Del Ciampo Luiz , Jose Albuquerque de Paula Francisco , Martinelli Jr Carlos

Background: Body weight has a close correlation with bone mass in humans and high fracture rates has been reported in both obese and underweighted individuals. It is not clear the role of bone marrow adiposity (BMA) and the IGF system in this process.Aim: The aim of this study was to analyze bone composition and BMA in obese and non-obese children/adolescents and correlate them with the expression of the IGF type-1 receptor (IGF1R) in peripheral lymphocy...

hrp0084fc1.2 | Adrenal | ESPE2015

Involvement of the Wnt/β-catenin Pathway, SF1, DAX1 and Stem/Progenitor Cell Markers in Paediatric Adrenocortical Tumors

Cavalcanti Marcelo M , Leal Leticia F , Coelli Fernanda B , Scrideli Carlos A , Molina Carlos A F , Tucci Silvio , Martinelli Carlos E , Yunes Jose A , Mastellaro Maria J , Moreira Ayrton C , Ramalho Leandra N , Castro Margaret , Antonini Sonir R

Background: Activation of the Wnt/β-catenin pathway is frequent in adrenocortical tumors (ACTs). This pathway and DAX1, a negative regulator of SF1 expression, control adrenal stem/progenitor cells, which can be involved in ACTs formation.Objective: To analyse the association between the Wnt/β-catenin pathway and the expression of a stem cell marker (NANOG), STAT3, DAX1 and SF1 in ACTs.Methods: Patients:...

hrp0095p2-181 | Growth and Syndromes | ESPE2022

IHH gene variant causing short stature and minor skeletal disorders

García-Zarzuela Ana , Domínguez-Riscart Jesús , Rodriguez-Barrios Carmen , Morales-Pérez Celia , Karen-Heath Emma , Mª Lechuga-Sancho Alfonso

Introduction: Short stature is a frequent reason for consultation in the paediatric age group. After appropriate clinical, radiological and laboratory evaluation, up to 60-80% of children are classified as idiopathic short stature (ISS) because no underlying cause can be found. Nowadays, the spreading of molecular is revealing that many of the patients initially classified as TBI, have variants in genes involved in the growth plate development. IHH gene is inv...

hrp0089p3-p211 | GH & IGFs P3 | ESPE2018

Study of the Effectiveness of GH in Children Born Small for Gestational Age in an Area of Northwestern Spain and its Associated Factors

Rodriguez Paloma Cabanas , Cordo Lourdes Rey , Fernandez Antonio Bello , Martin Jose Luis Chamorro , Carro Ana Prado , Rego Ruben , Castro-Feijoo Lidia , Dans Alicia Cepedano , Conde Jesus Barreiro

Introduction: Recombinant GH is an effective treatment for short children who are born small for gestational age(SGA). Short children SGA who fail catch-up growth by 4 years of age are candidates for GH treatment, at a dose of 35–70 μg/kg per day. Factors associated with response to GH treatment during the initial 2–3 years of therapy include age and height standard deviation scores at the start of therapy, midparental height, and GH dose. It is important to kno...

hrp0086fc4.1 | Pathophysiology of Obesity | ESPE2016

Contribution of Rare CNVs and Point Mutations to the Etiology of Severe Early-onset Obesity

Serra-Juhe Clara , Martos-Moreno Gabriel A , Bou Francesc , Flores Raquel , Rodriguez-Santiago Benjamin , Gonzalez Juan R , Argente Jesus , Perez-Jurado Luis A

Background: Studies aimed at elucidating the pathophysiology of obesity consistently describe it as a highly heterogeneous disorder at both clinical and molecular level. Despite rare monogenic forms and several regions of susceptibility have been defined, the genetic causes underlying the disease remain largely unknown.Objective and hypotheses: We aimed to identify novel genetic abnormalities in a cohort of Spanish children with severe non-syndromic earl...

hrp0086p1-p257 | Diabetes P1 | ESPE2016

Health-Related Quality of Life and its Associated Factors in Children With Type 1 Diabetes Mellitus

Murillo-Valles Marta , Rajmil Luis , Bel-Comos Joan , Perez Jacobo , Corripio Raquel , Carreras Gemma , Herrero Xavier , Mengibar Jose-Maria , Rodriguez-Arjona Dolors , Ravens-Sieberer Ulrike , Raat Hein

Objective: To assess health-related quality of life (HRQOL) in a cohort of children and adolescents with type 1 Diabetes (T1DM) and its associated factors.Methods: This was a descriptive study of 136 patients with T1DM from five hospitals in Catalonia, Spain (72 girls, mean age 13.4 years (range 8–19). Inclusion criteria were more than 6 months from diagnosis, more than 8 years old and without cognitive problems. Sociodemographic (age, sex, family l...

hrp0086p1-p479 | Fat Metabolism and Obesity P1 | ESPE2016

Hepatic Steatosis and Cardiovascular Risk in Overweight Children: Preliminary Results of the Study EFIGRO

Diez-Lopez Ignacio , Sarasua Ainhoa , Medrano Maria , Arenaza Lyde , Rodriguez-Vigil Beatriz , Tobalina Ignacio , Larrarte Eider , Perez-Asenjo Javier , Labayen Idoia

Introduction: The accumulation of fat in the liver is a serious complication of childhood obesity seems to be associated with cardiometabolic risk.Objective: To examine the association between fat accumulation in the liver and cardiovascular risk factors in overweight children.Material and methods: In the study 68 children/as (51.4% girls) were overweight or obese (defined according to the classification criteria of the Internation...

hrp0086p2-p876 | Syndromes: Mechanisms and Management P2 | ESPE2016

Project Epi Peg-Premeb. Clinical Situation of a Person Born SGA Followed from Birth Cohort. GLOBAL Causes and Clinical Situation of Partial Birth Cohort and 12 Months

Diez-Lopez Ignacio , Sarasua Ainhoa , Hoyo Marta del , Lorente Isabel , de Segura Raquel Gomez , Perez Dorleta , Picon Minerva , Macarulla Maria Teresa , Rodriguez Bittor

Up to 50% of children born SGA to 2 years have not made a proper catch up (by excess or defect), with repercussions in size, metabolic and cardiovascular disorders, DM, etc. epiPEG-PreMeb project to study during their first two years of life.Goals:: Establish a SGAcohort for monitoring, evaluation catch-up, and analysis of medium-environmental and social factors. To study the influence of these variables on clinical, laboratory and metabolic profiles. So...