hrp0095p1-196 | Thyroid | ESPE2022

Diffuse Sclerosing Variant of Papillary Thyroid Cancer in a boy with Goldenhar Syndrome

Ferrari Marta , Cerutti Matteo , Ricci Franco , Stagi Stefano

A 16-year-old boy was admitted to the Emergency Department for a painless laterocervical swelling, dysphagia and an ultrasound suspect of thyroiditis. On examination he presented facial asymmetry due to maxillary bones hypoplasia and facial nerve palsy of recent onset. There was also a history of hearing loss, hypospadias, Arnold-Chiari malformation and vertebral defects according to a clinical phenotype of Goldenhar Syndrome (GHS). Blood exams showed TSH 7.46 μU/ml (0.68-4...

hrp0095p1-308 | Growth and Syndromes | ESPE2022

Postnatal growth failure of aggrecan deficient mice is due to impaired growth plate chondrogenesis

Bendre Ameya , Ottosson Lars , Baroncelli Marta , Dou Zelong , Nilsson Ola

Background: Heterozygous Aggrecan (Acan) mutations cause autosomal short stature (ISS) with advanced bone age, early-onset osteoarthritis and intervertebral disc disease (OMIM#165800) in humans. Cartilage matrix deficiency mouse (Acancmd) has a naturally occurring 7 bp micro-deletion in aggrecan gene. Heterozygous Acancmd mice develop postnatal dwarfism with progressing age. However, the underlying cellular and molecular mechanisms causin...

hrp0089p2-p080 | Diabetes & Insulin P2 | ESPE2018

Betatrophin as a New Biomarker of Type 1 Diabetes Mellitus in Paediatrics

Ara Laura Bosch i , Villalba Adria , Murillo Marta , Fonolleda Mireia , Vazquez Federico , Rodriguez-Fernandez Silvia , Vives-Pi Marta , Bel Joan

Introduction: Type 1 Diabetes Mellitus (DM1) is an autoimmune disease resulting from the destruction of pancreatic β cells. After the diagnosis, up to 80% of patients spontaneously experience partial remission (PR) for months. New biomarkers are being studied, such as the betatrophin protein (ANGPTL8) of unknown function, but which could be involved in the evolution of DM1, in this phase of RP and even used as a therapeutic target.Methods: Observati...

hrp0095p2-11 | Adrenals and HPA Axis | ESPE2022

Differences in The Management of Classic Childhood Congenital Adrenal Hyperplasia in Spain According to A Patients Association

Murillo-Vallés , Valls-Llussà Aina , Martinez-Couselo Silvia , Salinas-Vert Isabel , de Diego-Suarez Marta Marta

Objective: Despite published guidelines, there is no single approach to management in congenital adrenal hyperplasia (CAH). The objective of the study was to explore the variations in treatment for CAH in Spain.Material and methods: A retrospective study in a single center was done analyzing the data provided by patients and relatives through the Spanish Association of CAH from a online survey of 25 questions. It was dif...

hrp0089p1-p083 | Diabetes & Insulin P1 | ESPE2018

HERV-W-Env Protein Expression in Pediatric Type 1 Diabetes Patients

Bouthors Therese , Elowe-Gruau Eglantine , Diaz-Escagedo Patricia , Antoniou Maria-Christina , Stoppa-Vaucher Sophie , Levet Sandrine , Medina Julie , Demolder Amandine , Perron Herve , Hauschild Michael

Introduction: The envelope protein of Human Endogenous Retrovirus type W (HERV-W-Env) has been shown to be associated with type 1 diabetes (T1D) pathogenesis in adults patients. This protein is expressed in pancreas of T1D patients and it seems to correlate with macrophage infiltrations. In vitro and in vivo studies have demonstrated that HERV-W-Env inhibits insulin secretion and promotes hyperglycemia. Furthermore, HERV could be implicated in other auto-immune disorders. The ...

hrp0089lb-p5 | Late Breaking P1 | ESPE2018

Association between the Use of Antenatal Steroids for Lung Maturation and Hypoglycemia in Newborns Between 26 and 34 6/7 Weeks of Gestation

Valencia Gina Marcela Gonzalez , Castaneda Jessica Lorena Gonzalez , Avendano Maria Camila Velandia , Cadena Fabio Camilo Suarez , Fontecha Eliana Rocio Arango , Diaz Andres Felipe Ochoa , Rojas Victor Clemente Medonza

Objective: The aim of this study was to evaluate the difference between the incidence of hypoglycemia in those preterm newborns who were exposed to steroids and those who were not.Methodology: This is a prospective cohort study of preterm infants born between 2017 and 2018 at a gestational age of 26 to 34 6/7 weeks in the Hospital Universitario de Santander- HUS- in Bucaramanga, Colombia.Results: 128 preterm infants were e...

hrp0086fc14.5 | Growth : Mechanisms | ESPE2016

Preferential Transmission of the Paternal C Allele of the rs9373409 Polymorphism in plagl1 Gene as a Regulator of Fetal Growth and Maternal Metabolism

Prats-Puig Anna , Carreras-Badosa Gemma , Diaz-Roldan Ferran , Petry Clive J , Maldonado-Moreno Clara , de Zegher Francis , Bassols Judit , Ibanez Lourdes , Dunger David B , Lopez-Bermejo Abel

Background: The phenotypic effects of single nucleotide polymorphisms (SNPs) may depend on their parental origin. PLAGL1 is an imprinted gene expressed from the paternal allele in placenta that is associated with fetal growth, transient neonatal diabetes mellitus and postnatal growth disorders. The mechanisms whereby PLAG1 regulates fetal growth are, however, unknown.Objective and hypotheses: To study if the preferential paternal transm...

hrp0086p2-p274 | Diabetes P2 | ESPE2016

‘Comparison of Neutrophil/Lymphocyte Ratio According to Degree of Glycemic Control in Children with Recent-onset Type 1 and Type 2 Diabetes

Estela Aguilar Herrera Blanca , Antonio Rosas Xalin , Antonio Morales Perez Marco , Cristina Torres Castaneda Mayra , Lizarraga Paulin Lorena , Angelica Gomez Diaz Rita

Background: There is a direct relation between C-reactive protein and leukocyte count as indicators of inflammation. The neutrophil lymphocyte ratio (NLR) is the balance between both cells and is considered a marker of low-grade inflammation and an indicator of high risk of cardiovascular events. An elevated NLR is related with type 2 diabetes (T2D), however, even when in type 1 diabetes (T1D) there is an underlying inflammatory process, an elevation of circulating neutrophils...

hrp0082fc8.4 | Fat Metabolism | ESPE2014

CREB-Regulated Transcription Coactivator 3: a New Adipokine Related to Childhood Obesity

Prats-Puig Anna , Soriano-Rodriguez Pilar , Oliveras Gloria , Blancafort Adriana , Diaz-Roldan Ferran , Carreras-Badosa Gemma , de Zegher Francis , Ibanez Lourdes , Bassols Judit , Puig Teresa , Lopez-Bermejo Abel

Background: CREB-regulated transcription coactivator 3 (CRTC3) is found in adipocytes where it may promote obesity through disruption of catecholamine signaling. CRTC3 knockout mice are resistant to diet-induced obesity.Objective and Hypotheses: The goals of the present study were i) to assess whether CRTC3 is a soluble protein secreted by adipose tissue ii) to explore whether CRTC3 is detectable and quantifiable in the circulation, and iii) to ...

hrp0082p1-d1-106 | Fat Metabolism & Obesity | ESPE2014

Natural Antibiotics: New Biomarkers of Childhood Obesity

Prats-Puig Anna , Gispert-Sauch Montserrat , Carreras-Badosa Gemma , Diaz-Roldan Ferran , de Zegher Francis , Ibanez Lourdes , Bassols Judit , Lopez-Bermejo Abel

Background: The innate immune system is one of the first lines of host defense against invading pathogens. Pro-inflammatory α-defensins (mainly DEFA1–3) and anti-inflammatory bacterial/permeability-increasing protein (BPI) are antimicrobial peptides predominantly produced by neutrophils which have been recently related to obesity, type 2 diabetes and cardiovascular risk.Objective and hypotheses: The aim of our study was to test whether α-d...