hrp0089p1-p039 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

3-epi-25 Serum 25-hydroxyvitamin D3 Concentrations in Chilean Children between 5 and 8 Years

Arancibia Monica , Seiltgens Cristian , Poggi Helena , Allende Fidel , Solari Sandra , Peredo Soledad , Trincado Claudia , Garcia Hernan , Moore Rosario , Dapremont Ivonne , Andrade Daniela , Sifaqui Sofia , Ossa Jt , Campino Carmen , Carvajal Cristian , Fardella Carlos , Baudrand Rene , Sanchez Ximena , Martinez-Aguayo Alejandro

Background: The C3 epimer of 25-hydroxi-vitamin D3 (Epi25OHD3) is present in the pediatric and adult population and varies according to age. If it measurement is clinically relevant and should be considered to classify Vitamin D status is still unknown.Objective: To measure 25OHD3, 25-hydroxy-Vitamin D2 (25OHD2) and Epi25OHD3 and to compare them with PTH and calcemia.Method: Subjects: Children between 5 and 8 years of age born very...

hrp0089p1-p067 | Diabetes & Insulin P1 | ESPE2018

Insulin Resistance Parameters in Children Who Were Born Very Preterm and Adequate for Gestational Age

Garcia Hernan , Poggi Helena , Arancibia Monica , Peredo Soledad , Trincado Claudia , Moore Rosario , D'Apremont Ivonne , Andrade Daniela , Sifaqui Sofia , Ossa JT , Campino Carmen , Carvajal Cristian , Fardella Carlos , Baudrand Rene , Solari Sandra , Allende Fidel , Martinez-Aguayo Alejandro

Background: Very preterm neonates are at risk for metabolic syndrome later in life. Our objective was to compare anthropometric measures and insulin resistance variables between children who were born very preterm (VPT, <32 gestational weeks) and term (T, >37 gestational weeks), and adequate for gestational age (AGA).Methods: In this cross-sectional cohort study we recruited 113 children 5.0 to 8.5 years old from the preterm clinic of our institu...

hrp0089p3-p127 | Fat, Metabolism and Obesity P3 | ESPE2018

BigO: Big Data Against Childhood Obesity

Diou Christos , Ioakeimidis Ioannis , Charmandari Evangelia , Kassari Penio , Lekka Irini , Mars Monica , Bergh Cecilia , Kechadi Tahar , Doyle Gerardine , O'Malley Grace , Heimeier Rachel , Lindroos Anna Karin , Sotiriou Sofoklis , Koukoula Evangelia , Guillen Sergio , Lymperopoulos George , Maglaveras Nicos , Delopoulos Anastasios

Background: Childhood obesity is a major global and European public health problem. The need for community-targeted actions has long been recognized, however it has been prevented by the lack of monitoring and evaluation framework, and the methodological inability to objectively quantify the local community characteristics in a reasonable timeframe. Recent technological achievements in mobile and wearable electronics and Big Data infrastructures allow the engagement of Europea...

hrp0089p1-p137 | Fetal, Neonatal Endocrinology and Metabolism P1 | ESPE2018

Neonatal Screening Tests in Premature Newborns in Southern Brasil

Furtado Ivy Hulbert Falcao , Kraemer Gabriela Carvalho , de Lima Marcella Rabassi , Domingos Mousseline Torquato , Pereira Rosana Marques , Cat Monica Nunes Lima , De Lacerda Luiz , da Silva Regina Paula Guimaraes Vieira Cavalcante , Sarquis Ana Lucia Figueiredo , Nesi-Franca Suzana

Neonatal screening tests are used for the screening of genetic, endocrine and metabolic diseases. Preterm newborns have a higher false-positive and false-negative results in neonatal screening. The objective of this study was to estimate the prevalence of false-positive and false-negative results in the neonatal screening tests for phenylketonuria, congenital hypothyroidism, biotinidase deficiency and congenital adrenal hyperplasia (CAH) in preterm newborns in Curitiba, to ana...

hrp0086p1-p1 | Adrenal P1 | ESPE2016

Leptin is Associated with Serum Aldosterone in Paediatric Subjects, Independently of Body Mass Index, Blood Pressure and Plasma Renin Activity

Martinez-Aguayo Alejandro , Campino Carmen , Baudrand Rene , Carvajal Cristian , Grob Francisca , Garcia Hernan , Bancalari Rodrigo , Loureiro Carolina , Mendoza Carolina , Arancibia Monica , Vecchiola Andrea , Tapia Alejandra , Valdivia Carolina , Fuentes Cristobal , Solari Sandra , Allende Fidel , Fardella Carlos

Background: Leptin is considered to play an important role in the development of hypertension in obesity. The excessive synthesis of aldosterone contributes to the development and progression of metabolic and cardiovascular dysfunctions. Leptin is a newly described regulator of aldosterone synthesis that acts directly on adrenal glomerulosa cells to increase CYP11B2 expression and enhance aldosterone production in human adrenal cells lines and in animal models.<p class="ab...

hrp0086p2-p769 | Pituitary and Neuroendocrinology P2 | ESPE2016

Novel Uses of Psychiatric Drugs to Treat Hypothalamic Obesity

Julian Maria Cristina Azcona San , Gomez-Cardenas Francisco Javier Aguilar , Falconi Jose Luis Leon , Elicegui Amaia Ochotorena , de las Heras Ana Navedo , Lamban Ana Catalan , Martin Patricia Sierrasesumaga , de Almiron Monica Prados Ruiz , Martin Eduardo Arnaus

Background: Hypothalamic obesity (HyOb) is a disease characterized by weight gain resistant to lifestyle changes and dietary restriction. The main clinical findings are hyperfagia and decline of satiety, high levels of insulin and an increase of adipogenesis. The major problem for these patients is that conventional treatments, either medical or surgical are not succesful and have variable results.Objective and hypotheses: We aim to describe the natural ...

hrp0084p1-64 | DSD | ESPE2015

MAMLD1 Mutations Seem Not Sufficient to Explain a 46, XY DSD Phenotype. What else?

Camats Nuria , Fernandez-Cancio Monica , Audi Laura , Mullis Primus E , Moreno Francisca , Casado Isabel Gonzalez , Lopez-Siguero Juan Pedro , Corripio Raquel , de la Vega Jose Antonio Bermudez , Blanco Jose Antonio , Fluck Christa E

Background: The MAMLD1 gene (Xp28) is thought to cause disorder of sex development (DSD) in 46, XY patients, mostly presenting with hypospadias, and, recently, also gonadal dysgenesis. However, there is some controversy about the role of MAMLD1 in sex development because i) some MAMLD1 variants are also detected in normal individuals, ii) others are not present in all affected DSD individuals of the same family; iii) several MAMLD1 mutations...

hrp0084lbp-1268 | Late Breaking Posters | ESPE2015

Genetic Causes of Disproportional Short Stature Identified by Whole Exome Sequencing

Funari Mariana F A , Vasques Gabriela A , Lerario Antonio M , Freire Bruna L , Nishi Mirian Y , Franca Monica M , Shinjo Sueli M O , Marie Suely K N , Arnhold Ivo J P , Jorge Alexander A L

Background: Disproportional short stature (DSS) is the most frequent clinical presentation of skeletal dysplasias, which are a heterogeneous group of more than 450 disorders of bone. Skeletal survey is important to establish the diagnosis and to guide the genetic test, but has several limitations, especially in mild and atypical cases.Objective and hypotheses: To identify the genetic aetiology of DSS by exome sequencing.Method: Who...

hrp0094p1-197 | Thyroid B | ESPE2021

Management of newborns born to mothers with autoimmune hypothyroidism

Cavarzere Paolo , Palma Laura , Camilot Marta , Vincenzi Monica , Teofoli Francesca , Principe Lara Nicolussi , Gaudino Rossella , Murri Virginia , Pepaj Orsiol , Lubrano Luigi , Rossi Giuliana , Sallemi Alessia , Fattori Ermanna , Lauriola Silvana , Antoniazzi Franco ,

Background: Maternal autoimmune hypothyroidism can have negative consequences on the fetus: on the one hand, maternal hypothyrosinemia might affect the fetal brain development in the early stages of pregnancy; on the other, thyroid inhibiting antibodies can pass through the placenta. It is currently unclear if these antibodies may affect the newborn’s thyroid function. Consequently, there are no certain indications regarding the management of newborns bor...

hrp0097p2-117 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Pediatric onset hypophosphatasia: a case report

Mascaro Rossella , Lia Magnacavallo Anna , Finamore Martina , Ferri Chiara , Palmoni Monica , Polenzani Ilaria , Rizzi Alessia , Laura Carla Meroni Silvia , Bucolo Carmen , Pitea Marco , Weber Giovanna , Barera Graziano , Cinzia Pozzobon Gabriella

A 8 years and 7 months old male presented with short stature related to his target height. No history of bones fractures. The patient was 120.7 cm (- 1.77 SDS). Physical exam demonstrated peculiar facies, relative macrocephaly, delayed tooth eruption and pectus carinatum. He referred during the clinical evaluation diffuse bone pain and weakness, mostly exacerbated by sport activity. A first diagnostic investigation had already been made showing low serum alkaline phosphatase a...