hrp0086p1-p43 | Adrenal P1 | ESPE2016

Severe Hypertension in a Girl: Cushing Syndrome or Apparent Mineralocorticoid Excess Syndrome? Utility of Molecular Study

Godoy Claudia , Seiltgens Cristian , Fardella Carlos , Lacourt Patricia , Pinochet Constanza , Carvajal Cristian

Background: Apparent mineralocorticoids excess syndrome (AME) is an unusual cause of hypertension, caused by genetic mutation of type 2 11β-hidroxysteroid desydrogenase (11BHSD2) enzime, which metabolizes cortisol(F) to cortisone(E). Patients with AME born from consanguineous parents, are small for gestagional age (SGA) and could have nephrocalcinosis, hypokalemia and high plasma cortisol/cortisone relation (F/E).Objective: To tell the clinical and ...

hrp0084p2-195 | Adrenals | ESPE2015

Serum Cortisol and Cortisone Ratio as Sensitive Tool to Identify Subjects With Severe or Partial 11β-Hydroxysteroid Dehydrogenase Type 2 Deficiency

Carvajal Cristian , Iturrieta Virginia , Campino Carmen , Valdivia Carolina , Lizama Jaime , Allende Fidel , Solari Sandra , Baudrand Rene , Lagos Carlos , Vecchiola Andrea , Martinez-Aguayo Alejandro , Garcia Hernan , Fardella Carlos

Background: Severe deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) triggers activation of mineralocorticoid receptor (MR) by cortisol and causing apparent mineralocorticoid excess (AME) syndrome characterized mostly by low-renin arterial hypertension and hypokalemia. In 2003, we studied a patient with AME (3 years-old) having two homozygous mutation, D223N (rs121917833) and a SNP C>T in intron 3 (rs376023420) (Carvajal et al. JCEM 2003).<p cla...

hrp0092p1-338 | Fat, Metabolism and Obesity (2) | ESPE2019

Continuous Score of Metabolic Syndrome (sSMp) in Chilean Pediatric Population is Associated with Insulin Resistance Parameters and Subclinical Endothelial Inflammation

Loureiro Carolina , Cavada Gabriel , Bancalari Rodrigo , Vecchiola Andrea , Tapia Alejandra , Baudrand René , Campino Carmen , Carvajal Cristian , Fardella Carlos , Martíinez Alejandro , García Hernán

Introduction: The dichotomous nature of the definition of Metabolic Syndrome (MS) in both children and adults can under-diagnose subjects at risk and prevents adequate follow-up of therapeutic interventions. Recently, a continuous score of MS (sSMp) was validated in the pediatric population based on the IDF criteria for a population> 16 years.Objectives: To apply sSMp in a Chilean pediatric population cohort and corr...

hrp0089p2-p292 | Multisystem Endocrine Disorders P2 | ESPE2018

Aldosterone, Renin, Sodium and Potassium Excretion in Normotensive Prepubertal Children

Martinez-Aguyo Alejandro , Poggi Helena , Campino Carmen , Peredo Soledad , Baudrand Rene , Carvajal Cristian , D'Apremont Ivonne , Moore Rosario , Solari Sandra , Allende Fidel , Fardella Carlos

Introduction: Previous studies have demonstrated that hypertension may begin early in the life. Under physiological conditions, the Renin-Angiotensin-Aldosterone System (RAAS) is highly variable due to variations in salt intake and other factors, making it difficult to interpret results. We measured aldosterone and renin, and compared them with sodium and potassium excretion in a normotensive pre-pubertal population.Methods: A cross-sectional study was ...

hrp0084p2-562 | Thyroid | ESPE2015

Thyroid Dysfunction is Associated with Biochemical Markers of Non Alcoholic Fatty Liver Disease in Paediatric Population

Loureiro Carolina , Martinez Alejandro , Campino Carmen , Correa Paulina , Mendoza Carolina , Carrillo Diego , Aglony Marlene , Bancalari Rodrigo , Carvajal Cristian , Fardella Carlos , Garcia Hernan , Grob Francisca

Background: Thyroid dysfunction is a common condition in children and has been associated with metabolic syndrome, hypertension, cardiovascular disease and mortality. Due to the obesity epidemic in paediatric population exists a higher prevalence of nonalcoholic fatty liver disease (NAFLD), a condition associated with insulin resistance and metabolic syndrome. In adults it has been observed that elevated TSH, even within the normal range, are positively correlated with increas...

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-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-p039 | Bone, Growth Plate &amp; 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 &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...