hrp0097p2-272 | Late Breaking | ESPE2023

Is screening for vitamin D deficiency reasonable or should we supplement at risk patients?

Oliveira Mariana , Cláudia Moura Ana , Miguel Cláudia , Pinto Mariana , Barros Marta , Almeida Nuno , Adriana Rangel Maria

Introduction: No consensus on vitamin D (VitD) deficiency screening in children and adolescents exists.Aim: To evaluate a sample of patients in whom VitD dosing was performed and determine the rationale for this assessment.Methods: Retrospective, longitudinal study of pediatric patients, from a Portuguese tertiary hospital, who had at least two 25(OH)D level blood sampling between ...

hrp0095p2-185 | Growth and Syndromes | ESPE2022

Coexistence of (likely) pathogenic variants in two genes, EZH2 and PTEN, contribute to overgrowth and developmental delay phenotype in a female patient

Suco Sofia , Scaglia Paula , Esnaola Azcoiti Maria , Armando Romina , Braslavsky Debora , Sanguineti Nora , Arberas Claudia , Gabriela Ropelato Maria , Izquierdo Agustin , Bergada Ignacio , Keselman Ana

Introduction: Overgrowth syndromes comprise an heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as developmental delay, visceromegaly and macrocephaly. They may present with inherent health concerns and, in some instances, an increased risk of tumor development requiring prompt diagnosis and appropriate referral.Objective: ...

hrp0089p2-p138 | Fat, Metabolism and Obesity P2 | ESPE2018

Physical Activity Determined by Accelerometry Before and After an Integral Treatment Program in Children with Abdominal Obesity

Azcona Maria Cristina , Morell Lydia , Ochotorena Amaia , Ana Ojeda , Leon Jose Luis , Prados Monica , Chueca Maria , Marti Amelia , GenoI Other members Grupo

Introduction: Physical activity (PA) is one of the treatments to promote weight loss in children with obesity. The WHO advices to perform moderate to vigorous (MV) PA during 60-min daily. It is necessary to measure the effect of increasing PA and the adherence to therapy.Aims: To evaluate PA using accelerometry at the onset and after 8 weeks of treatment with nutritional intervention and increase in PA.Patients, material and method...

hrp0089p2-p198 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Neonatal Hypocalcemia Due to Maternal Hypovitaminosis D: A Cohort of Children in a Region of Northern Spain

Zuber Maria Laura Bertholt , Martin Concepcion Freijo , Arias Pilar Gortazar , Fernandez Sonia Vilanova , Santos Ana Belen Perez , Amunarriz Maria Garmendia , Revuelta Inmaculada Palenzuela

Background: Neonatal hypocalcemia is defined when the total calcium levels are under 8 mg/dl (Ionic Ca < 1.1 mmol/l) in the full-term newborn, and under 7 mg/dl (Ionic Ca < 1 mmol/l) in the preterm. The fetus entirely depends on the maternal contributions of 25-OH-vitamin D, whose levels are directly correlated with diet and solar exposure. The largest transfer in calcium and vitamin D occurs in the third trimester of gestation, so prematurity is an important risk fact...

hrp0086p2-p580 | Perinatal Endocrinology P2 | ESPE2016

Newborns of Mothers Affected by Autoinmune Thyroid Disease

Solis Maria Magdalena Hawkins , de Alvare Ana Dolores Alcalde , Yebra Julia Yebra , Seoane Beatriz Perez , De la Serna Maria , Andres David Gomez

Background: Monitoring of thyroid function in neonates born from mothers affected by autoinmune thyroid disease is not perfectly established. The influence of etiology of maternal disease, maternal thyroid peroxidase antibodies (TPOAb) and l-thyroxine therapy during pregnancy on neonatal thyroid function were also investigated.Method: 194 term neonates were tested for thyroid function by measurement of free thyroxine (FT4</s...

hrp0082p2-d1-410 | Growth Hormone | ESPE2014

GHR Gene Variants within Coding and Intronic Regions in Children with Idiopathic Short Stature

Ballerini Maria Gabriela , Scaglia Paula , Martinez Alicia , Keselman Ana , Braslavsky Debora , Bergada Ignacio , Jasper Hector Guillermo , Ropelato Maria Gabriela , Domene Horacio

Background: Heterozygous GHR gene variants were found in 5–8% of idiopathic short stature (ISS) children. Frequent polymorphisms within GHR coding regions, but not intronic SNPs, have been investigated in ISS.Objectives: To characterize GHR gene variants in ISS children, and to test their influence on height and the peripheral GH/IGF1/IGFBPs system.Methods: GHR gene (coding/intronic flanking...

hrp0084p3-1039 | Growth | ESPE2015

Sotos Syndrome: Why is Better an Early Diagnosis?

Solis Maria Magdalena Hawkins , Gomez Maria Royo , de Alvare Ana Dolores Alcalde , Yebra Julia Yebra , Pose Araceli Garcia , Diaz Alfonso Canete

Background: Sotos syndrome is characterized by overgrowth. The four mayor criteria for diagnosis are: overgrowth (accelerated bone age), macrocephaly, characteristic facial features and developmental delay. They can also present escoliosis, heart or genitourinary disease, seizures, hypotonia, cerebral malformations, feeding difficulties, hearing loss and a greater risk of tumours.Case report: A 10 months old girl was referred for overgrowth. BW and BL wa...

hrp0086p2-p769 | Pituitary and Neuroendocrinology P2 | ESPE2016

Novel Uses of Psychiatric Drugs to Treat Hypothalamic Obesity

Julian Maria Cristina Azcona San , Gomez-Cardenas Francisco Javier Aguilar , Falconi Jose Luis Leon , Elicegui Amaia Ochotorena , de las Heras Ana Navedo , Lamban Ana Catalan , Martin Patricia Sierrasesumaga , de Almiron Monica Prados Ruiz , Martin Eduardo Arnaus

Background: Hypothalamic obesity (HyOb) is a disease characterized by weight gain resistant to lifestyle changes and dietary restriction. The main clinical findings are hyperfagia and decline of satiety, high levels of insulin and an increase of adipogenesis. The major problem for these patients is that conventional treatments, either medical or surgical are not succesful and have variable results.Objective and hypotheses: We aim to describe the natural ...

hrp0095p1-52 | Diabetes and Insulin | ESPE2022

Relationship between the quantification of physical activity according to the PAQ-c survey and the metabolic control of pediatric patients with type 1 diabetes.

Dominguez-Riscart Jesus , Buero-Fernandez Nuria , Garcia-Zarzuela Ana , Magdalena: Lerida-Nolasco Maria , López-Morago Casamayor Claudia , M Lechuga-Sancho Alfonso

Introduction: To achieve glycemic control goals in patients with type 1 diabetes (T1D), they are instructed in three fundamental principles: diet, insulin therapy and physical activity. Physical activity recommendations for children and adolescents with T1D are the same as for the general population. Following the physical activity recommendations helps mitigate the increased cardiovascular risk inherent to DM. We set out to explore the degree of glycemic cont...

hrp0095p1-88 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

An Ongoing Phase 2 Study of HM15136, a Novel Long-acting Glucagon Analogue, in Subjects with Congenital Hyperinsulinism (ACHIEVE, Outline Protocol)

Shin Wonjung , Kang Jiyeon , Lee Grace , Maria Arbelaez Ana , Banerjee Indi , Dastamani Antonia , Mohnike Klaus , Okawa Erin , Cho Hyungjin , D De León Diva

Congenital hyperinsulinism (CHI) is an ultra-rare disease characterized by excessive insulin secretion that results in persistent hypoglycemia. If left untreated, CHI-induced severe prolonged hypoglycemia may lead to permanent neurologic damage. Currently used pharmacologic agents fail to prevent hypoglycemia in a subset of patients with CHI. HM15136 is a novel long-acting glucagon analogue that have demonstrated good stability and extended half-life ranging from 77 to 167 hou...