hrp0092p3-320 | Late Breaking Abstracts | ESPE2019

EpiPEG-PreMeb Study: Chemerina Plasmatic and Metabolic Syndrome Relation at SGA Childrens

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Leniz Asier , Fernandez-Quintela Alfredo , Portillo Maria Puy , Macarulla-Arenaza Maria Teresa , Lorente-Blazquez Isabel

The objective of this study has been the analysis of plasma chemistry in a group of children born SGA at the University Hospital of Álava- Txagorritxu and biochemical parameters related to the metabolic syndrome.Material and Methods: In a cohort of 27 subjects sub (13 boys and 14 girls) from the epiPEG-PreMeb study, a blood sample at 3, 12 and 24 months of life it was extracted. Biochemical parameters s and measured by automated and...

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...

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 ...

hrp0095p1-156 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Cushing´s disease in children and adolescents: Experience of a single tertiary center

Gil Silvia , Gonzalez Ramos Javier , Mansilla Celeste , Fernandez Fastuca Laura , Lubieniecky Fabiana , Rugilo Carlos , Ciaccio Marta , Isabel Di Palma Maria

Cushing’s disease (CD) is rare entity especially in pediatric patients. It is associated with significant morbidity. Early diagnosis and treatment is important for optimal outcome.Aim: To evaluate the clinical, biochemical, pathology, treatments and outcome in a cohort of CD pediatrics patients in a single tertiary center.Subjects and Methods: Retrospective review of 27 medical records of CD ...

hrp0089p3-p103 | Diabetes &amp; Insulin P3 | ESPE2018

Epidemiological Study and Analysis of Type 1 Diabetes Comparing Patients with and Without Ketoacidosis in the Last 5 Years

Viseras Irene Pilar Fernandez , Mata Maria Angeles Santos , Delgado Silvia Ponce , Perez Celia Morales , Lopez Francisco Jose Macias

Type 1 diabetes (T1DM) in childhood is a highly prevalent disease, with incidence oscillating around 17.6/100000. However, incidence is higher in some communities (25.5/100,000), as it is in the case that concerns us. Diabetic ketoacidosis (DKA) is a complication usually recorded in 25–40% of cases but has been as high as 55% in studies of children under 5 years old. (T1DM) is an associated autoimmune disease to other precursor autoimmune pathologies.<p class="abstext...

hrp0086p2-p518 | Fat Metabolism and Obesity P2 | ESPE2016

Vitamin D Deficiency in Obese Children and the Relationship with Insulin Resistance and Metabolic Syndrome

Fernandez Viseras Irene , Angeles Santos Mata Maria , Lechuga Sancho Alfonso , Pedro Novalbos Ruiz Jose , Jose Macias Lopez Francisco

Background: Vitamin D is a pleiotropic hormone the deficiency of which is related with extraskeletal manifestations such as insulin resistance and cardiovascular risk disease.Objective and hypotheses: To investigate the levels of VitaminD in a sample of children with obesity and to evaluate the relationship between carbohydrate metabolism and metabolic syndrome (MS).Method: In this prospective cross-sectional study, 189 children ag...

hrp0086p1-p693 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Is it Cautious to Wait for Serum Basal Calcitonin Levels Rise in Patients with Ret Codon C634 Mutation?

De Leon Esther Gonzalez Ruiz , Fernandez Maria Sanz , Sanchez Amparo Rodriguez , Palanca Javier Menarguez , Arnao M. Dolores Rodriguez

Background: 2015 ATA Guidelines for management of medullary thyroid cancer (MTC) include C634 RET codon mutation in ‘High risk’ group, recomendating prophylactic thryroidectomy before 5 years old based on serum basal calcitonin levels (SBCt).Objective and hypotheses: We present 14 pediatric patients with C634 RET codon mutation, who underwent prophylactic thyroidectomy in our center, their clinical and analytical features and anatomopathologica...

hrp0082p3-d2-634 | Adrenals &amp; HP Axis (1) | ESPE2014

Prenatal Dexamethasone Use for the Prevention of Virilization in Pregnancy at Risk for Classical Congenital Adrenal Hyperplasia

Fernandez Maria Sanz , de Leon Esther Gonzalez Ruiz , Iniguez Elena Dulin , Zubicaray Begona Ezquieta , Arnao Dolores Rodriguez , Sanchez Amparo Rodriguez

Background: The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. This can be ameliorated by administering dexamethasone to the mother.Case: This is a family whose index case is a first son diagnosed by Madrid Newborn Screening Program of CAH with salt-wasting form due to 21-hydroxylase deficiency. Mutation analysis revealed: ‘hybrid deletion’ ...

hrp0084p3-1220 | Thyroid | ESPE2015

Transient Hyperthyroidism Associated with a Thyroid Nodule

Pieck Alejandro Vargas , Fernandez Diego Yeste , Pontnou Marta Garrido , Leon Maria Clemente , Martorell Ariadna Campos , Lezcano Antonio Carrascosa

Introduction: Developing an acute onset thyroid nodule is rare in children and usually associates with infectious or neoplastic disease; when linked to hyperthyroidism, the most likely diagnosis is toxic adenoma.Clinical description: 9-year-old boy with no relevant medical history was seen at the emergency department for acute cervical pain and tumor involving the left thyroid lobe with no inflammatory signs or history of trauma. Physical examination rev...

hrp0094p2-72 | Bone, growth plate and mineral metabolism | ESPE2021

ACAN gene skeletal dysplasia (short size syndrome, with or without advanced bone age and early onset osteoarthritis)

Aguilar Riera Cristina , Arciniegas Larry , Murillo Valles Marta , Ros Pena Andrea , Alvarez Paula Fernandez , Clemente Maria , Yeste Diego ,

Aggrecan is a structural glycoprotein of the extracellular matrix of cartilage present in the articular cartilage, growth plate and cartilage of the intervertebral disc. Biallelic pathogenic variants are the cause of aggrecan type spondyloepiphyseal dysplasia (OMIM#612813) while the presence of heterozygous pathogenic variants determine Kimberley type spondyloepiphyseal dysplasia (OMIM#608361) and short stature associated or not with acceleration of bone maturation and early o...