Adrenal and Neuroendocrine - Basic | 0063 | ECE2019 | 21st European Congress of Endocrinology

ea0063gp94 | Adrenal and Neuroendocrine - Basic | ECE2019

Somatic transmembrane domain mutations of a cell adhesion molecule, CADM1, cause primary aldosteronism by preventing gap junction communication between adrenocortical cells

Wu Xilin , Garg Sumedha , Cabrera Claudia , Azizan Elena , Mein Chaz , Takaoka Yutaka , Wozniak Eva , Zhao Wanfeng , Marker Alison , Buss Folma , Murakami Masanori , Beuschlein Felix , Reincke Martin , Ito Akihiko , Brown Morris

Background: PA is the commonest curable cause of hypertension. Whole exome sequencing (WES) in 2011 and 2013 identified common somatic mutations in genes regulating membrane polarisation in 60-80% of aldosterone-producing adenomas (APA). In search of the missing variants, we undertook further WES. One APA from a 46-year-old gentleman revealed a novel somatic mutation (Val380Asp); which introduced a charged amino-acid into the single transmembrane domain of Cell Adhesion Molecu...

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ea0063gp95 | Adrenal and Neuroendocrine - Basic | ECE2019

The role of filamin A (FLNA) in the regulation of IGF2/IGF1R pathway in adrenocortical carcinomas

Peverelli Erika , Catalano Rosa , Giardino Elena , Mangili Federica , Treppiedi Donatella , Morelli Valentina , Mannelli Massimo , Spada Anna , Arosio Maura , Mantovani Giovanna

Adrenocortical carcinomas (ACCs) are rare endocrine tumors with poor prognosis. The insulin-like growth factor 2 (IGF2) is overexpressed in the great majority of ACC, and IGF2/IGF1R pathway acts as a proliferative autocrine loop, but to date IGF1R-targeted therapies have demonstrated a limited efficacy and the molecular mechanisms regulating this pathway are still unknown. The cytoskeleton acting-binding protein filamin A (FLNA), determinant in cancer progression and metastasi...

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ea0063gp96 | Adrenal and Neuroendocrine - Basic | ECE2019

An unusual association of P450 oxidoreductase Deficiency and Argininosuccinatelyase Deficiency

Anselmi Federica , Alfano Sara , Improda Nicola , Di Mase Raffaella , Alexander Wudy Stefan , Parenti Giancarlo , Baldazzi Lilia , Menabo Soara , Capalbo Donatella , Salerno Mariacarolina

Background: P450 Oxidoreductase (POR) Deficiency(PORD) represents the most complex form of congenital adrenal hyperplasia. It usuallycauses genital ambiguity in both sexes, and eventually peculiar skeletal malformations resembling Antley-Bixler syndrome. Co-occurrence of POR deficiency and Argininosuccinatelyase Deficiency (ALD)in the samepatient born to non-consanguineous parents has never been reported.Case report: A male patient was born at term to no...

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ea0063gp97 | Adrenal and Neuroendocrine - Basic | ECE2019

Structural changes in the zona glomerulosa of normal aging adrenals

van Bonzel Lieke , van de Wiel Elle , Deinum Jaap , Kusters Benno , Langenhuijsen Johan

Background and study aims: Increased aldosterone production in the adrenal gland plays a role in many hypertensive patients. Structural changes of the zona glomerulosa with age in normotensive patients have been described in literature but the influence of aging on aldosterone secretion and physiology is unclear. The aim of this study is to investigate changes in the ZG in order to gain insight in the origin, development and definition of aldosterone producing cell clusters (A...

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ea0063gp98 | Adrenal and Neuroendocrine - Basic | ECE2019

Methylation status and gene expression of steroidogenic enzymes in benign adrenocortical tumors

Di Dalmazi Guido , Morandi Luca , Rubin Beatrice , Pilon Catia , Asioli Sofia , Maffeis Valeria , Vicennati Valentina , Pagotto Uberto , Fallo Francesco

Background: DNA methylation has been recognized as a putative regulatory mechanism for CYP11B2 in primary hyperaldosteronism. We aimed to investigate the DNA methylation and the expression of a panel of genes encoding several enzymes involved in steroidogenesis in adrenocortical benign tumors.Methods: We collected a total of 60 adrenocortical tissues, including 9 non-functioning adrenal adenomas, 9 adenomas associated with autonomous cortisol se...

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ea0063gp99 | Adrenal and Neuroendocrine - Basic | ECE2019

Implementation of two preclinical ACC models for a comparative drug screen and initial mechanistic investigations

Sharma Ashish , Shapiro Igor , Perge Pal , Igaz Peter , Hantel Constanze

Current systemic treatments are not satisfying for the treatment of adrenocortical carcinoma (ACC). However, translation of preclinically promising approaches were often disappointing indicating that existing tumor models might have inadequately predicted clinical applicability. Thus, our workgroup initiated a comparative drug screen of relevant chemotherapies and therapies targeting IGFR, EGFR, VEGFR/PDGFR and Wnt signalling pathway in the classical NCI-H295R and recently dev...

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ea0063gp100 | Adrenal and Neuroendocrine - Basic | ECE2019

Characterization of cell death induced by mitotane in adrenocortical carcinoma cells

Weigand Isabel , Schreiner Jochen , Rohrig Florian , Kiseljak-Vassiliades Katja , Hofner Kerstin , Kendl Sabine , Fassnacht Martin , Sbiera Silviu , Kroiss Matthias

Background: Mitotane is the only drug approved for treatment of adrenocortical carcinoma (ACC). We have found that mitotane leads to endoplasmic reticulum stress and decreased viability in ACC cells. It is not known by which downstream mechanisms cell death is induced by mitotane.Aim: To characterize the mechanisms underlying cell death resulting from mitotane treatment in ACC cells.Methods: Lipid peroxidation in the ACC cell line ...

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ea0063gp101 | Adrenal and Neuroendocrine - Basic | ECE2019

Infiltrating CD68+/CD163+ macrophages regulate Gonadotroph-tumour invasion through collagen remodelling

Principe Moitza , Chanal Marie , Ilie Mirela D. , Vasiljevic Alexandre , Jouanneau Emmanuel , Hennino Ana , Raverot Gerald , Bertolino Philippe

Introduction: Pituitary Neuroendocrine tumours (PitNETs) present heterogenic characteristics based on their hormonal expression and secretion. While most PitNETs have a slow progression rate, a subset of them exhibit an aggressive behaviour with recurrence properties despite current surgery, radio- and chemotherapy. To explore new clinical strategies based on immunotherapy we initiated a systemic cartography of the pituitary tumour immune microenvironment (PiTME).<p class=...

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ea0063gp102 | Adrenal and Neuroendocrine - Basic | ECE2019

Development of a simple experiment to distinguish ARMC5 missense mutants from rare ARMC5 polymorphisms in PBMAH patients using a quantitative western blot approach

Vaczlavik Anna , Espiard Stephanie , Ribes Christopher , North Marie-Odile , Drougat Ludivine , Ragazzon Bruno , Rizk-Rabin Marthe , Bertherat Jerome

Introduction: Germline inactivating ARMC5 (Armadillo repeat containing 5) mutations are responsible for Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH). ARMC5 presents the characteristics of a tumor suppressor gene. Mutations are observed in more than 85% of patients with a clear familial presentation and 20 to 25% of apparently sporadic cases. Genetic alterations are spread all over ARMC5 coding sequence and more than two-third of them ar...

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ea0063gp103 | Adrenal and Neuroendocrine - Basic | ECE2019

Abstract Unavailable....

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ea0063gp104 | Adrenal and Neuroendocrine - Basic | ECE2019

Identification of genes mediating dysregulated cell growth in aldosterone-producing adenomas

Yang Yuhong , Tetti Martina , Jaquin Diana , Mulatero Paolo , Schneider Holger , Beuschlein Felix , Reincke Martin , Williams Tracy Ann

Background: Aldosterone-producing adenomas (APA) are a major cause of primary aldosteronism. Somatic mutations explain the excess aldosterone production in the majority of patients with APA with mutations in the potassium channel KCNJ5 the most prevalent. In contrast, mechanisms driving cell proliferation are largely unresolved.Objective: To identify genes that modulate cell growth in APAs.Methods: Quantitative transcripto...

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ea0063gp105 | Adrenal and Neuroendocrine - Basic | ECE2019

Reappraisal of the human adrenal cortex and fate

Camponova Pamela , Duparc Celine , Roy Malanie , Lefebvre Herve , Thomas Michael

The zonation of the human adrenal cortex has long been established morphologically and histologically as three distinct layers of cells. The outer zona glomerulosa (ZG) comprises densely packed cells arranged in clusters that produce aldosterone; the zona fasciculata (ZF) is composed of cells with large cytoplasm, containing lipid droplets arranged in radial columns that synthetize cortisol; and the zona reticularis is composed of compact and pigmented cells producing androgen...

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ea0063gp106 | Adrenal and Neuroendocrine - Basic | ECE2019

Gene expression changes in visceral adipose tissue of Cushing syndrome.

Garcia-Eguren Guillermo , Gonzalez Mar , Blanco Enrique , Giro Oriol , Vidal Oscar , Carmona Francesc , Casals Gregori , Mora Mireia , Halperin Irene , diCroce Luciano , Hanzu Felicia A

Introduction: Visceral adipose tissue (VAT) is the key target tissue of glucocorticoids (GC) during active Cushing Syndrome (CS) and a metabolic tissue associated to insulin-resistance and an increased cardiometabolic risk. Till date there are no data regarding gene expression in VAT in CS and only few data about the mRNA in subcutaneous one. The aim of this study was to study the visceral VAT tissue transcriptional changes in ACTH-independent CS.Methods...

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ea0063gp107 | Adrenal and Neuroendocrine - Basic | ECE2019

Abstract Unavailable....

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Endocrine Abstracts

21st European Congress of Endocrinology

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