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...

hrp0082fc8.4 | Fat Metabolism | ESPE2014

CREB-Regulated Transcription Coactivator 3: a New Adipokine Related to Childhood Obesity

Prats-Puig Anna , Soriano-Rodriguez Pilar , Oliveras Gloria , Blancafort Adriana , Diaz-Roldan Ferran , Carreras-Badosa Gemma , de Zegher Francis , Ibanez Lourdes , Bassols Judit , Puig Teresa , Lopez-Bermejo Abel

Background: CREB-regulated transcription coactivator 3 (CRTC3) is found in adipocytes where it may promote obesity through disruption of catecholamine signaling. CRTC3 knockout mice are resistant to diet-induced obesity.Objective and Hypotheses: The goals of the present study were i) to assess whether CRTC3 is a soluble protein secreted by adipose tissue ii) to explore whether CRTC3 is detectable and quantifiable in the circulation, and iii) to ...

hrp0082p1-d2-69 | Diabetes (1) | ESPE2014

Activation of Insulin/IGF1 Signaling Could Increase Hypothalamic Lipid Anabolism in Non-Diabetic IRS2-Deficient Mice

Barrios Vicente , Baquedano Eva , Canelles Sandra , Gonzalez-Rodriguez Agueda , Burgos-Ramos Emma , Chowen Julie A , Frago Laura M , Valverde Angela M , Argente Jesus

Background: Insulin/IGF1 signaling plays a critical role in central glucose bioavailability and lipid metabolism. An increase in glucose disposal can generate reducing agents through the pentose-phosphate pathway necessary for the synthesis of free fatty acids (FFA). Disturbances in lipid synthesis are related to the appearance of insulin resistance and diabetes. The insulin receptor substrate 2 (IRS2) deficient mice (IRS2−/−) is an excellent model to st...

hrp0082p2-d2-305 | Bone (1) | ESPE2014

Status of Vitamin D in Pregnancy to Childhood in Northern Spain: Seasonality, Sun Exposure, and Intake

Rodriguez-Dehli Ana Cristina , Riano-Galan Isolina , Velazquez Ines Olaya , Fernandez-Somoano Ana , Castilla Ane Miren , Espada Mercedes , Navarrete-Munoz Eva M , Tardon Adonina

Background: Vitamin D3 (25OHD) insufficiency is becoming a public health issue. Adequate 25OHD status during pregnancy may influence the health status of the offspring.Objective and hypotheses: To evaluate the levels of 25OHD during pregnancy (at 12 weeks) and at 4 years old, assessing seasonality, time of sun exposure, and intake.Method: Data were obtained from 485 pregnant mothers recruited in Asturias between 2004 and 2007 and t...

hrp0082p2-d3-408 | Fat Metabolism & Obesity (2) | ESPE2014

SHBG Integrates the Cardiovascular Risk and Metabolic Dysfunction of Gestational Obesity

Bassols Judit , Soriano-Rodriguez Pilar , Prats-Puig Anna , Carreras-Badosa Gemma , Miranda-Arce Miguel-Angel , Alvarez-Castano Elena , de Zegher Francis , Ibanez Lourdes , Lopez-Bermejo Abel

Background: Sex hormone-binding globulin (SHBG) is the major sex steroid carrier protein. Its production is negatively regulated by insulin and monosaccharides. The concentration of SHBG increases between 16 and 27 weeks gestation and is negatively associated with pre-gestational BMI and weight gain during pregnancy. The link of SHBG with cardiovascular risk is poorly understood.Objective and hypotheses: In obese pregnant women, we aimed to study the ass...