hrp0084p3-606 | Adrenals | ESPE2015

Familial Hyperaldosteronism Type 1 in an Infant without Hypertension: How Important Could be the Early Treatment with Hydrocortisone?

Martinez-Aguayo Alejandro , Mendoza Carolina , Loureiro Carolina , Campino Carmen , Carvajal Cristian , Baudrand Rene , Rumie Hana , Bancalari Rodrigo , Garcia Hernan , Vecchiola Andrea , Valdivia Carolina , Fardella Carlos

Background: Familial hyperaldosteronism type 1 (FH-1), is caused by the presence of a chimeric CYP11B1/CYP11B2 gene that produces high amounts of aldosterone in response to ACTH and severe hypertension. An early diagnosis and treatment are important, not only to manage hypertension but also to avoid possible deleterious effects of aldosterone on the endothelium and cardiovascular diseases.Clinical case: A 3 months old boy was referred for evalua...

hrp0089p1-p179 | Growth & Syndromes P1 | ESPE2018

Beckwith Wiedemann Syndrome: First International Consensus Regarding Diagnosis and Clinical Management

Brioude Frederic , Kalish Jennifer M. , Mussa Alessandro , C. Foster Alison , Bliek Jet , Ferrero Giovanni B. , Boonen Susanne E. , Baker Robert , Bertoletti Monica , Cocchi Guido , Coze Carole , Pellegrin Maurizio De , Hussain Khalid , Krajewska-Walasek Malgorzata , Kratz Christian P. , Bouc Yves Le , Maas Saskia M. , Ounap Katrin , Peruzzi Licia , Rossignol Sylvie , Russo Silvia , Shipster Caroleen , Skorka Agata , Tatton-Brown Katrina , Tenorio Jair , Tortora Chiara , Gronskov Karen , Netchine Irene , Hennekam Raoul C. , Prawitt Dirk , Tumer Zeynep , Eggermann Thomas , Mackay Deborah J. G. , Riccio Andrea , Maher Eamonn R.

Beckwith Wiedemann syndrome (BWS) is a rare overgrowth disorder characterised by macroglossia, exomphalos, lateralised overgrowth, organomegaly, hyperinsulinism, and an increased risk of embryonic tumor during early life. In about 80% of BWS cases, molecular defects are identified at the imprinted 11p15.5 region which contains the IGF2 and the CDKN1C genes (most patients show methylation defects at either imprinting control region IC1 or IC2, or paternal unip...

hrp0089p1-p021 | Adrenals and HPA Axis P1 | ESPE2018

Higher Dehydroepiandrosterone Levels in Prepubertal Children Born Very Preterm

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

Objective: To evaluate the impact of gestational age and birthweight on dehydroepiandrosterone and dehydroepiandrosterone-sulfate (DHEA and DHEA-S) in children born very preterm (VPT) appropriate for gestational age (GA) compared to children born at term (T).Methods: We recorded anthropometric parameters in 72 VPT (<32 GA) and 41 T (≥ 38 GA) aged 5.0–8.5 years. Birthweight standard deviation scores (BW-SDS) were calculated using INTERGROWT...

hrp0089p1-p067 | Diabetes &amp; 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...

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...

hrp0086p1-p698 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Clusters of Autoinmune Diseases in Children

Seiltgens Cristian , Iruretagoyena Mirentxu , Melendez Patricia , Ponce Maria Jesus , Talesnik Eduardo , Mendez Cecilia , Godoy Claudia , Martinez-Aguayo Alejandro , Hogdson Isabel , Harris Paul , Gana Juan Carlos , Riera Francisca , Garcia Hernan , Cattani Andreina , Borzutzky Arturo

Background: Autoimmune diseases (AIDs) have familial aggregation and frequently share a common genetic background, but few studies have evaluated autoimmune clusters in children with AIDs and their families.Objective and hypotheses: To identify clusters of AIDs in children and their first-degree relatives.Method: A cross-sectional study was performed in subjects with an AID of pediatric onset (<18 years) recruited at Pediatric ...

hrp0094p2-1 | Adrenals and HPA Axis | ESPE2021

Circadian rhythm of salivary cortisol and cortisone in school-aged children born very preterm and adequate for gestational age

Ochoa Maria Fernanda , Dominguez Gonzalo , Poggi Helena , Martinez Alejandro , Moore Rosario , Garcia Hernan , D’apremont Ivonne , Allende Fidel , Solari Sandra , Campino Carmen , Fardella Carlos , Baudrand Rene , Carvajal Cristian ,

Introduction: Higher evening cortisol level has been previously described in very preterm infants, possibly reflecting increased Hypothalamic-Pituitary-Adrenal Axis (HPA) tone or alterations in HPA regulation throughout the day. These relatively subtle differences in HPA axis function in preterm compared to full-term children may become meaningful in terms of metabolic risk later in life if sustained over time. Still, only a few studies have investigated wheth...

hrp0084fc1.3 | Adrenal | ESPE2015

Aldosterone and Mineralocorticoid Receptor as Inducers of Immune Markers in Peripheral Blood Mononuclear Cells: Beyond Elevating Blood Pressure

Vecchiola Andrea , Munoz-Durango Natalia , Cifuentes Mariana , Lagos Carlos , Fuentes Cristobal , Gonzalez Luis-Martin , Ortiz David , Carvajal Cristian , Tapia-Castillo Alejandra , Valdivia Carolina , Martinez-Aguayo Alejandro , Allende Fidel , Solari Sandra , Bancalari Rodrigo , Garcia Hernan , Campino Carmen , Baudrand Rene , Kalergis Alexis , Fardella Carlos E

Background: In vitro studies suggest a broader role for aldosterone, beyond elevating blood pressure. Clinical data support the notion that aldosterone can directly alter the function of the immune system and can participate in low-grade inflammation which leads to blood pressure elevation and end organ damage.Objective and hypothesis: To assess in humans, whether aldosterone plasma levels and mineralocorticoid receptor (MR) expression associate...

hrp0084p1-8 | Adrenal | ESPE2015

Cortisol:Cortisone Ratio and Metalloproteinase 9 Emerging as Risk Factors Associated with Paediatrics Hypertension

Martinez-Aguayo Alejandro , Campino Carmen , Baudrand Rene , Carvajal Cristian , Pinochet Constanza , Garcia Hernan , Bancalari Rodrigo , Tapia Alejandra , Garcia Lorena , Loureiro Carolina , Mendoza Carolina , Vecchiola Andrea , Valdivia Carolina , Fuente Cristobal , Lagos Carlos , Grob Francisca , Solari Sandra , Allende Fidel , Kalergis Alexis , Fardella Carlos

Background: Paediatric hypertension is increasing and has been associated with obesity and insulin resistance. Recently, cortisol:cortisone ratio and the metalloproteinase 9 (MMP9), which is a marker of vascular remodelling, have been syndicated as new risk factors associated with hypertension.Objective and hypotheses: To analyse the association between paediatric hypertension with clinical, biochemical, inflammation, and vascular remodelling biomarkers<...

hrp0084p1-165 | Miscelleaneous | ESPE2015

Higher Urinary Iodine Levels Iodine Correlates with Lower Systolic Blood Pressure in Chilean Schoolchildren

Grob Francisca , Martinez-Aguayo Alejandro , Ateaga Maria Clara , Loureiro Carolina , Carrillo Diego , Hill Caroline , Campino Carmen , Mendoza Carolina , Ferrada Clarita , Bancalari Rodrigo , Pinochet Constanza , Carvajal Cristian , Aglony Marlene , Valdivia Carolina , Vecchiola Andrea , Carrasco Carmen , Baudrand Rene , Fuentes Cristobal , Garcia Hernan , Fardella Carlos

Background: Iodine concentrations in Chilean schoolchildren are the highest in South America. This may be related to excessive sodium intake, which is associated with hypertension. However, iodine decreases blood pressure (BP), which would be a cardiovascular protective factor.Objective and hypotheses: The objective of this study is to evaluate the effects of iodine on BP and cardiovascular risk factors, despite salt intake.Method:...