hrp0089fc9.5 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

National Multidisciplinary Decision-Making Guideline for Children and Young People (Idiopathic Thickened Pituitary Stalk and/or Idiopathic Central Diabetes Insipidus

Cerbone Manuela , Bulwer Chloe , Ederies Ashraf , Vallabhaneni Kirtana , Ball Stephen , Kamaly Ian , Grossman Ashley , Gleeson Helena , Korbonits Marta , Nanduri Vasanta , Tziaferi Vaya , Jacques Tom , Visser Johannes , Spoudeas Helen A

Background: Thickening of the Pituitary Stalk (TPS) and/or Central Diabetes Insipidus (CDI) can occour in isolation or synchronously/metachronously in the same patient. Due to their rarity and wide spectrum of underlying aetiologies they represent a diagnostic and management conundrum.Aim: To develop a high-quality national multidisciplinary guideline for the assessment and management of children and young people (CYP) before their 19th birthd...

hrp0089p2-p270 | Growth & Syndromes P2 | ESPE2018

A Homozygous Pathogenic Variant in the TRHR Gene in a Boy Who Presented With Severe Familial Short Stature and Central Hypothyroidism

Šnajderova Marta , Plachy Lukaš , Strakova Veronika , Elblova Lenka , Dušatkova Petra , Zemkova Dana , Lebl Jan , Pruhova Štěpanka

Introduction: Congenital central hypothyroidism (CCH) is a rare disease with inappropriate thyroid hormone secretion due to impaired TSH stimulation. TSH levels are not elevated; the patients are not diagnosed in TSH-based newborn screening. Biallelic variants in TRHR gene (encoding TRH receptor) are one of four genetic defects known to cause isolated CCH (THRH, THSB, IGSF1, TBL1X). The phenotype is variable but generally mild (neon...

hrp0089p3-p240 | Growth & Syndromes P3 | ESPE2018

The Expression of Cytokines in SGA Children Throughout Lactation Allows to Characterize Early the Type of Cath-up

Diez-Lopez Ignacio , Sarasua Ainhoa , delHoyo Marta , Lorente Isabel , Segura Raquel Gomez de , Picon Minerva , Leniz Asier , Fernandez Alfredo , Puy-Portillo Maria

Up to 50% of children born SGA at 2 years have not made a correct catch up (by excess or defect), with repercussions on size, metabolic and cardiovascular alterations, DM, etc. The Project has developed a prospective cohort of SGA and seeks to study phenotypic, BQ and genetic differences that explain their different behavior.Material and methods: We study live births of single pregnancies in our Hospital during 2012–2014, and are classified accordin...

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 ...

hrp0086rfc13.7 | Management of Obesity | ESPE2016

Early Onset Obesity and Hyperphagia Associated with Defects in the GNAS Gene

Garcia Marta , Espinosa Nuria , Guerrero-Fernandez Julio , Salamanca Luis , Morais Ana , Gracia Ricardo , Elkoro Intza Garin , Casado Isabel Gonzalez , de Nanclares Guiomar Perez , Moreno Jose C.

Background: Imprinted genes are known to regulate fetal growth and a ‘parental conflict’ model predicts that paternally and maternally expressed imprinted genes promote and inhibit fetal growth, respectively. GNAS is a complex imprinted locus with multiple oppositely imprinted gene products. Maternal, but not paternal, G(s)alpha mutations lead to obesity in pseudohypoparathyroidism type IA (PHPIA). However, the disorder rarely causes severe obesity in infancy as pred...

hrp0086p2-p183 | Bone & Mineral Metabolism P2 | ESPE2016

Hyperphosphatemic Familial Tumoral Calcinosis: Novel Indication to Sevelamer Carbonate

Fuentes-Bolanos Noemi , Canovas Sanchez Laura , del Toro Codes Marta , Martinez Moya Gabriela , Natividad Pedreno Moises , de la Cruz Moreno Jesus

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by hyperphosphatemia and abnormal deposit of phosphate and calcium most often around the hips, shoulders and elbows and rarely in the brain.Case presentation: A four-year-old-girl from Arabian origin was referred to the regional paediatric endocrine clinic from the Orthopedics Team due to: recurrent calcinosis of the right calcaneus and incipient left wrist pain...

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...

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...

hrp0082p1-d2-255 | Thyroid (1) | ESPE2014

Usefulness of Second Screening Strategy for Congenital Hypothyroidism in LBW Neonates

Cavarzere Paolo , Popa Florina Ion , Vincenzi Monica , Camilot Marta , Teofoli Francesca , Morosato Lorella , Maines Evelina , Gaudino Rossella , Lauriola Silvana , Antoniazzi Franco

Background: Thyroid function in preterm infants is often altered for various reasons. LBW or VLBW newborns frequently present a particular form of congenital hypothyroidism (CH) characterized by low FT4 and delayed TSH elevation. The incidence of this disease is 1:250 for VLBW babies and 1:1589 for LBW newborns. In this condition, neonatal screening based solely on TSH can miss the diagnosis, therefore some screening programs have proposed to repeat the screening te...

hrp0082p3-d1-882 | Perinatal and Neonatal Endocrinology | ESPE2014

Project Episga: PreMeb Presentation, Subject Recruitment, and Initial Data

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Hoyo-Moracho Marta , Lorente-Blazquez Isabel , Lorente Raquel Gomez de Segura , Campos Dorleta Perez , Rodriguez-Rivera Victor Manuel , Macarulla-Arenaza Maria Teresa

Background: Up to 50% SGA did not do a proper catch up (for over/under) and may have implications in size, metabolic, cardiovascular. Arises: epiSGA – PreMeb Project. Global approach to study.Objective: Create clinical cohort of SGA for monitoring, assessment catch-up, use GHRH requirements, environmental/social factors and variables influence on clinical, laboratory and metabolic profiles in order to progress in the knowledge of natural history. Pr...