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19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

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20-23 May 2017, Lisbon, Portugal Further information

Guided Posters

Adrenal 1

ea0049gp1 | Adrenal 1 | ECE2017

PRKACA mutations in adrenal Cushing can alter substrate specificity

Bathon Kerstin , Weigand Isabel , Vanselow Jens T , Ronchi Cristina L , Di Dalmazi Guido , Beuschlein Felix , Sbiera Silviu , Schlosser Andreas , Fassnacht Martin , Calebiro Davide

Previously, we identified seven mutations in the main catalytic subunit of protein kinase A (PKA Cα) to be responsible for cortisol-secreting adrenocortical adenomas (CPAs): L206R, L199_C200_insW, S213R_L212_K214insIILR, C200_GlyinsV, W197R, del244-248+E249Q, E32V. Here we performed a functional characterization of these mutants. Specifically, we evaluated the association between PKA regulatory and catalytic subunits using co-immunoprecipitation and PKA activity using a k...

ea0049gp2 | Adrenal 1 | ECE2017

Contribution of retinoic acid receptor signalling to adrenal cortex morphology and functional zonation through modulation of WNT/β-catenin pathway

El Zein Rami , Rickard Amanda J , Felipe Golib Dzib Jose , Samson-Couterie Benoit , Rocha Angelique , Poglitsch Marko , Gomez-Sanchez Celso E , Amar Laurence , Fernandes-Rosa Fabio Luiz , Ghyselinck Norbert B , Benecke Arndt , Lalli Enzo , Zennaro Maria-Christina , Boulkroun Sheerazed

Recurrent somatic mutations in KCNJ5, CACNA1D, ATP1A1 and ATP2B3 have been identified in aldosterone producing adenoma (APA). Although the role of these mutations in regulating aldosterone biosynthesis has been clearly established, the mechanisms involved in proliferation and APA formation still remain to be elucidated. The aim of our study was to identify pathways involved in adrenal cortex nodulation and APA formation.Transcriptomic a...

ea0049gp3 | Adrenal 1 | ECE2017

Exosomal hsa-miR-483-5p and hsa-miR-101 are potential minimally invasive biomarkers of adrenocortical carcinoma

Perge Pal , Butz Henriett , Pezzani Raffaele , Bancos Irina , Nagy Zoltan , Decmann Abel , Luconi Michaela , Mannelli Massimo , Buzas Edit Iren , Toth Miklos , Boscaro Marco , Patocs Attila , Igaz Peter

Background: Extracellular vesicles (exosomes, microvesicles) shed from tumor cells containing microRNAs can be exploited as markers of malignancy. The preoperative diagnosis of adrenocortical malignancy is difficult and microRNAs have proved useful in the diagnosis of many tumors, including adrenocortical cancer (ACC), but there have no studies to date on extracellular vesicle associated microRNAs in ACC.Aim: To evaluate the diagnostic potential of extra...

ea0049gp4 | Adrenal 1 | ECE2017

Androgen receptor signalling is essential for regression of the adrenal x-zone and regulation of the adrenal cortex in the male mouse

Gannon Anne-Louise , O'Hara Laura , Mitchell Rod , Mason Ian , Smith Lee

Introduction: Androgens have long been known to play an important role in health and wellbeing. A range of clinical disorders in males and females can arise due to disruption to production and action of androgens. Androgen receptor (AR) is widely expressed throughout the adrenal cortex, yet the wider role for androgen signalling in the adrenal remains underexplored due to the lack of suitable animal models.Methods: An adrenal-specific androgen receptor k...

ea0049gp5 | Adrenal 1 | ECE2017

Protein Kinase A signaling saves regulatory subunit IIβ from PRKACA mutation-mediated degradation

Weigand Isabel , Bathon Kerstin , Ronchi Cristina , Rizk-Rabin Marthe , Di Dalmazi Guido , Wild Vanessa , Rubin Beatrice , Vanselow Jens T , Schlosser Andreas , Calebiro Davide , Beuschlein Felix , Bertherat Jerome , Fassnacht Martin , Sbiera Silviu

Protein Kinase A (PKA) consists of two catalytic and two regulatory subunits with several isoforms (Cα,β,γ, RIα,IIα,Iβ,IIβ). In 30–40% of cortisol-producing adrenocortical adenomas (CPA) heterozygous activating somatic mutations in the catalytic subunit α (Cα) of PKA have been found. Previous reports found strikingly reduced levels of RIIβ in CPA compared to other adrenocortical tumors. Here, we investigated the correlatio...

ea0049gp6 | Adrenal 1 | ECE2017

Involvement of ARMC5 in proliferation and cell cycle control of human cell cultures from adrenal nodules of primary macronodular adrenocortical hyperplasia (PMAH)

Cavalcante Isadora , Nishi Mirian , Zerbini Maria Claudia , Chambo Jose Luiz , Almeida Madson , Lotfi Claudimara , Fragoso Maria Candida

Background: The mechanisms causing hypercortisolism in primary macronodular adrenocortical hyperplasia (PMAH) are not fully clarified. The participation of ectopic receptors and autocrine/paracrine regulation of intra-adrenal ACTH in hyperplastic tissue have been considered. Additionally, germline ARMC5 mutations have been described as main cause of PMAH. So far, the functional study that analyzed the role of ARMC5 used the adrenocortical carcinoma cell line, H295R. T...

ea0049gp7 | Adrenal 1 | ECE2017

Identification of a new glucocorticoid receptor mutation underscores the substantial prevalence of genetic NR3C1 alterations in adrenal hyperplasia: the French National Research Program MUTA-GR

Vitellius Geraldine , Delemer Brigitte , Caron Philippe , Bennet Antoine , Bouligand Jerome , Guiochon-Mantel Anne , Viengchareun Say , Dani Christian , Trabado Severine , Lombes Marc

Primary generalized glucocorticoid resistance is characterized by glucocorticoid excess without any Cushing syndrome. Patients exhibit variable clinical presentation including arterial hypertension, hirsutism or adrenal hyperplasia. Although glucocorticoid resistance has been associated with glucocorticoid receptor (GR) mutations (encoded by NR3C1 gene), only 23 mutations have been reported so far. We have conducted a French National Research Program, referred to as M...

ea0049gp8 | Adrenal 1 | ECE2017

Clinical and translational relevance of circulating miR483 in adrenocortical cancer

Canu Letizia , Salvianti Francesca , Poli Giada , Armignacco Roberta , Cantini Giulia , Di Franco Alessandra , Gelmini Stefania , Ercolino Tonino , Terzolo Massimo , Nesi Gabriella , Pinzani Pamela , Mannelli Massimo , Luconi Michaela

Adrenocortical cancer (ACC) is a rare aggressive malignancy, with poor prognosis when metastaic at diagnosis. Recent ACC pan-genomics analysis contributed to redefine the risk groups on molecular bases, including tumor micro RNA (miR), which can be detectable not only in the primary lesion but also in the bloodstream.We develop a quantitative real-time assay for the measurement of absolute levels in plasma samples of miR483 and its mature miR483-5p form....

ea0049gp9 | Adrenal 1 | ECE2017

Mortality is increased in patients with Cushing’s disease in long-term remission: A nation-wide study

Chantzichristos Dimitrios , Papakokkinou Eleni , Dahlqvist Per , Segerstedt Elin , Olsson Tommy , Berinder Katarina , Hoybye Charlotte , Bensing Sophie , Engstrom Britt Eden , Burman Pia , Folin Cecilia , Erfurth Eva Marie , Wahlberg Jeanette , Ekman Bertil , Schwarcz Erik , Bryngelsson Ing-Liss , Andersson Eva , Johannsson Gudmundur , Olsson Daniel S , Ragnarsson Oskar

Background: It is still undetermined whether patients with Cushing’s disease (CD) in remission have an increased mortality. Most previous studies are limited by small numbers of patients and/or short follow-up time.Objective: To study mortality in a nation-wide cohort of patients with CD during long-term follow-up.Methods: Patients with ICD codes for Cushing’s syndrome and/or CD, between 1987 and 2013, were identified in ...

ea0049gp10 | Adrenal 1 | ECE2017

Expression of GATA transcription factors and their role in the aetiology of Testicular Adrenal Rest Tumours

Engels Manon , Span Paul , Marijnissen-van Zanten Monica , van Herwaarden Teun , Hulsbergen-van de Kaa Christina , Mitchell Rod , Smith Lee , Stikkelbroeck Nike , Sweep Fred , Claahsen-van der Grinten Hedi

Background: Recently, GATA transcription factors have been linked to the development of Testicular Adrenal Rest Tumours (TART), benign adrenal-like testicular tumours that frequently occur in male patients with congenital adrenal hyperplasia (CAH). The objective of this study is to determine GATA expression in TART and other steroidogenic tissues, examining their discriminative potential and their possible role in the aetiology of TART.Methods: GATA1-6 e...