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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

hrp0084fc1.1 | Adrenal | ESPE2015

A Genomic Atlas of Human Gonad and Adrenal Development

Duncan Andrew , Buoncore Federica , Lin Lin , Barenco Martino , Hubank Mike , Gerrelli Dianne , Achermann John

Background: The adrenal glands and gonads develop from an area of intermediate mesoderm between 6 and 10 weeks post conception (wpc) in humans. Elucidating the genomic components and pathways in these processes could reveal novel aspects of human developmental biology and new factors implicated in adrenal insufficiency and DSD.Objective and hypotheses: To develop a unique genomic atlas of adrenal and gonad development during critical stages of human embr...

hrp0084fc1.2 | Adrenal | ESPE2015

Involvement of the Wnt/β-catenin Pathway, SF1, DAX1 and Stem/Progenitor Cell Markers in Paediatric Adrenocortical Tumors

Cavalcanti Marcelo M , Leal Leticia F , Coelli Fernanda B , Scrideli Carlos A , Molina Carlos A F , Tucci Silvio , Martinelli Carlos E , Yunes Jose A , Mastellaro Maria J , Moreira Ayrton C , Ramalho Leandra N , Castro Margaret , Antonini Sonir R

Background: Activation of the Wnt/β-catenin pathway is frequent in adrenocortical tumors (ACTs). This pathway and DAX1, a negative regulator of SF1 expression, control adrenal stem/progenitor cells, which can be involved in ACTs formation.Objective: To analyse the association between the Wnt/β-catenin pathway and the expression of a stem cell marker (NANOG), STAT3, DAX1 and SF1 in ACTs.Methods: Patients:...

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...

hrp0084fc1.4 | Adrenal | ESPE2015

Congenital Adrenal Hyperplasia due to 21 OH Deficiency: Final Height Before and After Newborn Screening Era in Emilia-Romagna Region, Italy

Baronio Federico , Menabo Soara , Bettocchi Ilaria , Baldazzi Lilia , Tamburrino Federica , Montanari Francesca , Cassio Alessandra , Mazzanti Laura , Balsamo Antonio

Background: Final height (FH) in patients (pts) with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is often under the genetic target, despite improvement of new therapeutic strategies.Objective and hypotheses: The aim of this study is to evaluate FH in a cohort of pts with CAH due to 21OHD diagnosed before and after newborn screening (NBS) era in Emilia-Romagna, Italy.Method: We evaluated final heigh...

hrp0084fc1.5 | Adrenal | ESPE2015

Atypical Presentation of Six Patients with Mutations in the Side Chain Cleavage Enzyme CYP11A1

Chan Li , Huebner Angela , Spoudeas Helen , Cheetham Tim , Metherell Louise

Background: Mutations in the side chain cleavage enzyme, (CYP11A1) cause congenital adrenal insufficiency, with complete or partial 46XY sex reversal. The disorder manifests with adrenal and gonadal insufficiencies along with derangements of the renin/angiotensin system.Objective and hypotheses: To obtain a genetic diagnosis in six patients with adrenal insufficiency of unknown aetiology. Patients 1 and 2 are sisters with ACTH resistance, having...

hrp0084fc1.6 | Adrenal | ESPE2015

An Update on Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-free Foetal DNA in Maternal Plasma

New Maria , Tong Yu , Jiang Peiyong , Pina Christian , Chan K C Allen , Khattab Ahmed , Liao Gary J W , Yau Mabel , Kim Se-Min , Chiu Rossa W K , Sun Li , Zaidi Mone , Lo Y M Dennis

Background: Congenital adrenal hyperplasia (CAH) arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. Currently employed chorionic villus sampling and amniocentesis provide genetic results at ~14 weeks of gestation at the earliest. At this time, the genitalia of the affected female foetuses have already become virilized. To prevent genital ambiguity, prenatal treatment with dexamethasone must begin on or before gestational ...