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...

hrp0082p2-d2-549 | Puberty and Neuroendocrinology (1) | ESPE2014

Evaluation of Age at GnRH Analogue Treatment Discontinuation, Age at Menarche and Adult Height in Girls with Central Precocious Puberty from the Spanish Registry

Corripio Raquel , Soriano-Guillen Leandro , Canete Ramon , Castro-Feijoo Lidia , Escribano Arancha , Espino Rafael , Herrero-Espinet Javier , Labarta Jose-Ignacio , Argente Jesus

Background: The Spanish Registry PUBERE was created (2007) with 53 hospitals.Objective and hypotheses: i) To determine the chronological age (CA) and bone (BA) at GnRH analogue withdrawal; ii) to analyze the age at menarche and time elapsed after stopping treatment; and iii) to know adult height data.Method: Patients with central precocious puberty (CPP) born after 1992, diagnosed before 8 years in girls, with BA/CA >1 year and...

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...

hrp0082p3-d2-889 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Evolution and Epidemiological Assessment of the Influence of Sociological Variables of Children Born SGA in the Last Decade in Basque Country

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

Background: Although the theoretical impact of small in weight and/or size at birth (<2 SDS for EG) is 3–5% (3.5% in the Basque Country (source: Local Government) the socio-economic situation in our country has conditioned a change in its l although 50% at 2 years did not do a proper catch up (by excess or defect) with potential impact on future size and metabolic complications, cardiovascular require specific monitoring.Objective: To assess soc...

hrp0084p3-821 | Endocrine Oncology | ESPE2015

Primary Hypogonadism after Haematopoietic Stem Cell Transplant in Paediatric Patients with Cancer

Alemany Maria Del Carmen De Mingo , Orti Raquel Segovia , Macian Francisca Moreno , Carinena Sara Leon , Moreno Maria Del Mar Andres , Navarro Jose Maria Fernandez

Background: Gonadal function is altered up to 25% in patients who suffered cancer in childhood. Cryopreservation of ovarian tissue (COT) is an option for preserving fertility.Aims and objective: To establish the prevalence of primary hypogonadism (PH) in children with cancer after hematopoietic cell transplantation (HCT). To analyse the variables that predict progression to PH.Methods: Retrospective cohort study. Patients aged 0 to...

hrp0084p3-929 | GH &amp; IGF | ESPE2015

Biochemical Profiles Differentials by SGA Children Catch Up

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

Background: SGA cohort study in analytical and metabolic variables at 3 and 12 months of age with somatométrica situation.Material and methods: Live births in singleton pregnancies in our hospital during 2012–2014, PEG were studied according EG and weight/height (Spanish Tablas 2008). Tours are conducted at 0, 3, 6, 9, 12 months, with measurements of weight, height and perimeter. Blood samples are obtained at least fasting discussed 4h and exce...

hrp0084p3-1094 | Perinatal | ESPE2015

EPIPEG-PREMEB Proyect. Clinical Situation before 12 months go on a SGA Population

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

Background: Cohort SGA in North of Spain – EPIPEG.Objective and hypotheses: Establish a SGA cohort for monitoring, assessment catch-up, and analysis of middle-environmental and social factors.Method: We study live births in singleton pregnancies in our hospital during 2012–2014, and are classified according age gestation (EG) and weight/height (Spanish growth 2008). Visits were made at 0, 3, 6, 9, 12 months, with measurem...

hrp0097p2-255 | Late Breaking | ESPE2023

Phenolic Endocrine Disruptors as Potential Risk Factors for Early Onset Thelarche: Insights from a Population-Based Study

Sol Ventura Paula , Escribano Arantxa , Herrero Xavier , Torrebias Meritxell , Corripio Raquel , Castiello Francesca , Riaño Isolina , Olivas Alicia , Suarez Beatriz , Freire Carmen

The diagnosis of early thelarche is common in Pediatric Endocrinology consultations, with many cases lacking an organic cause. It can either spontaneously resolve, remain stable, or progress to precocious puberty. Early exposure to endocrine-disrupting environmental pollutants (EDs) with estrogenic and/or anti-androgenic effects during pregnancy or childhood may affect the timing of thelarche onset and/or puberty in girls. Further research is needed to better understand the in...

hrp0095p1-129 | Growth and Syndromes | ESPE2022

Variegated Mosaic Aneuploidy Syndrome In Two Severely Undersized Siblings

Valls Aina , Ros Andrea , Murillo Marta , Garcia Belen , Martinez Daniel , Maqueda Elena , Berrocal Elena

Introduction: Variegated mosaic aneuploidy syndrome (MVA) is a rare autosomal recessive disease characterized by a variable percentage of chromosomal gains and losses, resulting in multiple mosaic aneuploidies, which explains a great phenotypic variety and may predispose to the development of cancer. Bi-allelic mutations in CEP57 are the cause of MVA2. CEP57 encodes a centrosome protein involved in microtubule stabilization and is crucial for maintaining prope...

hrp0092p3-293 | Late Breaking Abstracts | ESPE2019

Clinical Evolution of a Patient with Isolated Growth Hormone Deficiency Type IA Treated with rIGF1 for 5 Years After The Development of GH-antibodies

Feliu Rovira Albert , Latorre Martinez Esther , Porcar Cardona Ines , Escribano Subias Joaquin

Introduction: Isolated growth hormone deficiency (IGHD) type IA causes a severe growth retardation. Their initial good response to exogenous GH is hampered by the development of anti-GH-antibodies leading to treat with IGF1 as the only therapeutic option. Here we present the evolution of a patient with IGHD type IA treated with IGF1r for more than 5 years.Description of the caseWe present a 5-year-...