hrp0098p1-303 | Late Breaking 1 | ESPE2024

Treating Arginine Vasopressin Deficiency in Infants is a Challenging Condition: A 20-year Single-Center Study

Gon Perez Nardoque Beatriz , Donaire Sousa Carolina , Casale Aragon Davi , Condé Lamparelli Elias Paula , Teresa Alves Sarti de Paula Mariana , Roberto Rauber Antonini Sonir

Introduction: The management and follow-up of paediatric patients with arginine vasopressin deficiency (AVP-D) is challenging, particularly in infants (0-2 years). Few studies have examined the particularities of AVP-D in this age group.Objectives: To describe clinical, laboratory, and demographic characteristics of AVP-D in infants at diagnosis and to describe the follow-up during the first years of life. To ascertain c...

hrp0098p1-278 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

Water deprivation test in children: challenging but still necessary to diagnose central diabetes insipidus

Donaire Sousa Carolina , Gon Perez Nardoque Beatriz , Teresa Alves Sarti de Paula Mariana , Casale Aragon Davi , Custodio Moreira Ayrton , Conde Lamparelli Elias Paula , Roberto Rauber Antonini Sonir

Introduction: It is challenging to differentiate central diabetes insipidus (CDI) from Nephrogenic Diabetes Insipidus (NDI) or Primary Polydipsia (PP) in patients with polyuria-polydipsia syndrome, especially in the pediatric population. Despite its limited accuracy and low tolerance in children, the water deprivation test (WDT) is still used as a reference.Objectives: To review indications and outcomes of pediatric pati...

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-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...

hrp0082p3-d2-898 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Marfan Neonatal Syndrome: a Case Report

Hawkins Magdalena , Alcalde Ana , Yebra Julia , Royo Maria , Perez-Seoane Beatriz , de la Serna Maria , Raga Teresa , Barrios Ana , Garcia-Minaur Sixto

Background: Marfan syndrome is an autosomal dominant genetic disorder with skeletal, cardiac, and ocular involvement. Mutations in the fibrillin-1 gene on chromosome 15 are responsible for the development of the syndrome.Objective: To present one case of neonatal Marfan syndrome.Case: The patient was a 1-day-old female neonate who was born at 36 weeks gestation via normal delivery. Her body weight was 2900 g and height 48 cm. Ultra...

hrp0082fc4.1 | Growth | ESPE2014

Heterozygous IGF1R Mutations Represent a Frequent Finding in Patients with Pre- and/or Postnatal Proportional Undergrowth and Low, Normal or Supranormal IGF1

Campos-Barros Angel , Gomez-Nunez Ana , Gonzalez-Casado Isabel , Salamanca-Fresno Luis , Garcia-Minaur Sixto , Ros-Perez Purificacion , Borras-Perez Victoria , Audi Laura , Rosell-Andreo Jordi , de Sotto-Esteban Diego , Garcia-Cuartero Beatriz , Gonzalez-Vergaz Amparo , Cruz-Rojo Jaime , Garzon Lucia , Gallego-Gomez Elena

Background: IGF1 resistance syndrome (IGF1RS) is characterized by intrauterine and postnatal growth deficit with normal or supranormal IGF1 levels. Additional features may include intellectual deficit, microcephaly and dysmorphisms. IGF1RS may be caused by genomic or genetic defects affecting the IGF1R locus (15q26.3).Objective and hypotheses: To investigate the frequency of IGF1R mutations in a cohort of patients with pre- and/or postn...

hrp0086fc2.2 | Bone &amp; Mineral Metabolism | ESPE2016

From Pseudohypoparathyroidism to Inactivating PTH/PTHrP Signaling Disorder (iPPSD), a Novel Classification Proposed by the European EuroPHP-Network

Thiele Susanne , Mantovani Giovanna , Barlier Anne , Bordogna Paola , Elli Francesca M , Freson Kathleen , Garin Intza , Grybek Virginie , Hanna Patrick , Izzi Benedetta , Hiort Olaf , Lecumberri Beatriz , Pereda Arrate , de Sanctis Luisa , Silve Caroline , Turan Serap , Usardi Alessia , Saraff Vrinda , de Nanclares Guiomar Perez , Linglart Agnes

Background: Disorders related to an impairment in parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that now encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and an in vitro assay of Gs&#9...

hrp0084p1-97 | Growth | ESPE2015

High Frequency of Hypomorphic Allelic Haplotypes of the gh1 Proximal Promoter in Patients with Proportional Undergrowth and Isolated GH Deficiency

Campos-Barros Angel , Gomez-Nunez Ana , Zurita-Munoz Olga , Gallego-Gomez Elena , Cruz-Rojo Jaime , Garzon Lucia , Luzuriaga-Tomas Cristina , Riano-Galan Isolina , Bezanilla-Lopez Carolina , Donate-Legaz Jose Maria , Marban-Calzon Mercedes , Ruperez Sara , Hermoso Florinda , Lara-Orejas Emma , Borras-Perez Ma Victoria , Rius-Peris Jose Manuel , Garcia-Cuartero Beatriz , Gonzalez-Casado Isabel

Background: Although isolated GH deficiency (IGHD) is one of the most frequent causes of postnatal proportional undergrowth, up to 85–90% of IGHD cases are still classified as idiopathic. On the other hand, previous reports identified up to 40 different GH1 proximal promoter haplotypes, some of which show hypomorphic effects, significantly reducing GH1 expression levels.Objective and hypotheses: To investigate the frequency of ...

hrp0092p2-297 | Thyroid | ESPE2019

Evaluation of Elevated Serum Thyroid-Stimulating Hormone (TSH) in Children and Adolescents: A Single-Center Study in Uruguay

Risso Mariana , Echeverría Gimena , Mendoza Beatriz

Introduction: Primary hypothyroidism is the most frequent thyroid disease in children, and elevation of serum TSH is a common presenting complaint (pc) in the pediatric endocrinology outpatient clinic. Subclinical hypothyroidism (sHT) predominates in relation to overt hypothyroidism (cHT). The benefit of Levothyroxine is controversial specially when serum TSH levels are less than 10 uUI/ml.Objectives: To evaluate the pre...

hrp0082p3-d3-792 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Frequency of Vegetable and Fruit Consumption in Overweight Children and Their Parents

Escobar Sandra Beatriz Escobar , Awadalla Shokery

Background: Increased incidence of obesity is related to increased consumption of fast and processed food and decreased consumption of fruits and vegetables.Objective and hypotheses: Evaluate the habit of fruit and vegetable consumption in children with overweight.Method: A questionnaire was designed in which the frequency and quality of these habits were recorded and anthropometric data also. Parent’s habits regarding fruit a...