Searchable abstracts of presentations at key conferences in endocrinology

ea0070oc1.7 | Adrenal and Cardiovascular Endocrinology | ECE2020

Comparative proteomic analysis of different bilateral adrenocortical hyperplasia

Berthon Annabel , Cologna Stephanie , Blank Paul , Hannah-Shmouni Fady , Bertherat Jerome , Porter Forbes , Stratakis Constantine

Bilateral Adrenal Hyperplasias (BAH) are responsible for approximately 10% of ACTH-independent Cushing syndrome and are classified as either micronodular or macronodular. Whereas Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and isolated Micronodular Adrenal Disease (iMAD) are two types of micronodular hyperplasia, Primary Macronodular Adrenal Hyperplasia (PMAH) is a macronodular BAH. These tumors are classified differently based on clinical, histological and geneti...

ea0070aep563 | Pituitary and Neuroendocrinology | ECE2020

Macrophages involvement in neuroendocrine tumor behaviour and progression

Boemi Ilena , Vitali Eleonora , Trivellin Giampaolo , Smiroldo Valeria , Lavezzi Elisabetta , Zerbi Alessandro , Stratakis Constantine , Lania Andrea

Neuroendocrine neoplasms (NENs) are rare tumour showing a wide spectrum of clinical behaviours. Therapeutic options available for NET treatment are rarely curative and mostly palliative, as NETs frequently show resistance to pharmacological therapy. Cancers develop in complex tissue environments, which they depend on. Tumour-associated macrophages (TAMs) are a major cellular component of the tumour microenvironment. Two polarized state of macrophages are described in literatur...

ea0022p51 | Adrenal | ECE2010

In vitro effect of serotonin (5-HT) on cortisol secretion in primary pigmented nodular adrenal disease

Louiset Estelle , Duparc Celine , Perraudin Veronique , Renouf Sylvie , Libe Rossella , Stratakis Constantine A , Bertherat Jerome , Lefebvre Herve

Illegitimate membrane receptors are known to play a role in cortisol secretion in adrenal adenomas and ACTH-independent macronodular adrenal hyperplasia (AIMAH) causing Cushing’s syndrome. Conversely, illegitimate receptors have never been described in primary pigmented nodular adrenal disease (PPNAD). In the normal adrenal gland, serotonin (5-HT) has been shown to stimulate cortisol secretion through activation of 5-HT receptor type 4 (5-HT4) whereas, in some AIMAH tissu...

ea0081p13 | Adrenal and Cardiovascular Endocrinology | ECE2022

ARMC5 as a possible regulator of acetylation in the adrenal cortex in partnership with SIRT1

Berthon Annabel , Faucz Fabio , Feldman Benjamin , Drougat Ludivine , espiard Stephanie , Pontes Cavalcante Isadora , Ragazzon Bruno , Bertherat Jerome , Stratakis Constantine

ARMC5 is a tumor suppressor gene responsible for 20 to 40% of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) with a function that remains unclear. Based on pathway analysis from RNAseq results obtained on zebrafish models of transient Armc5 up- and down-regulation, we identified transcriptional alterations of several members of SIRT1 (sirtuin (silent mating type information regulation 2 homolog) 1) signaling in our models and hypothesized that ARM...

ea0049gp28 | Adrenal 3 | ECE2017

A PRKACB somatic mutation in a cortisol producing adenoma: a new example of protein kinase A activation leading to adrenal Cushing syndrome

Espiard Stephanie , Knape Matthias , Bathon Kerstin , Assie Guillaume , Abid Daniel , Faillot Simon , Calebiro Davide , Herberg Friedrich , Stratakis Constantine , Bertherat Jerome

Introduction: Alterations of the cAMP signaling pathway are described in adrenal tumors causing Cushing syndrome, specifically mutations in the gene coding for the protein kinase A (PKA) catalytic subunit alpha (PRAKCA) in cortisol producing adenomas (CPA) with overt Cushing syndrome.Materiel and Methods: Eight CPAs without PRKACA mutations were analyzed by whole exome sequencing. Direct sequencing of PRAKCB encoding for the catalytic subunit beta (C&#94...

ea0049gp236 | Thyroid Cancer & Thyroid Case Reports | ECE2017

A rare case of medullary thyroid cancer, mesothelioma and meningioma, due to APC and RASAL1 mutations

Lyssikatos Charalampos , Quezado Martha M , Faucz Fabio R , Angelousi Anna , Nasiri-Ansari Narjes , Stratakis Constantine A , Kassi Eva

Introduction: Patients with “mixed” phenotypes are common among patients with multiple endocrine and non-endocrine neoplasias. Their diagnoses do not fit a given pattern making ge netic counseling difficult and testing impossible to guide. Most of these patients end up getting genome-wide studies for the identification of any predisposing genetic defect. We present a rare case of a 57 year old female who presented clinically with medullary thyroid cancer (MTC), mesot...

ea0029n11 | (1) | ICEECE2012

A prospective study of growth and development of children recently adopted from orphanage care

Keil Margaret F , Singh Sharon , Graf Jennifer , Ugolini Maddalena , Gandhi Roma , Mason Patrick , Glass Penny , Stratakis Constantine A

Background and aims: Over 200 000 international adoptions by US families occurred between 1999–2010. Prior studies suggest that the effects of institutionalized care on growth and development may not be fully reversible. The exact mechanisms through which early life stress affect biobehavioral outcomes have yet to be determined, but environmental influences could regulate both biobehavoral outcomes through an effect on the hypothalamic-pituitary-adrenal (HPA) axis.<p ...

ea0049gp12 | Adrenal 2 | ECE2017

Activation of the cAMP/PKA transduction system triggers abnormal expression of the serotonin signaling pathway in human adrenocortical cells

Mestre Julie Le , Duparc Celine , Bram Zakariae , Reznik Yves , Bertherat Jerome , Touraine Philippe , Young Jacques , Chabre Olivier , Stratakis Constantine A. , Lefebvre Herve , Louiset Estelle

In human adrenals, serotonin (5-HT), released by subcapsular mast cells, increases aldosterone secretion through activation of type 4 serotonin receptors (5-HT4R) but only exerts a modest control on cortisol production. Interestingly, illicit synthesis of 5-HT in adrenocortical cells as well as overexpression of the 5-HT4R and ectopic expression of the type 7 receptor (5-HT7R) have been observed in bilateral macronodular adrenal hyperplasia res...

ea0049ep13 | Adrenal cortex (to include Cushing's) | ECE2017

Hair cortisol in patients with primary aldosteronism

Hodes Aaron , Lodish Maya , Tirosh Amit , Meyer Jerrold , Belyavskaya Elena , Lyssikatos Charalampos , Rosenberg Kendra , Demidowich Andrew , Swan Jeremy , Jonas Nichole , Stratakis Constantine , Zilbermint Mihail

Context: Primary aldosteronism (PA) is a common cause of secondary hypertension, and some PA adrenal tumors co-secrete glucocorticoids, causing subclinical or overt Cushing syndrome (CS). We recently reported correlations between hair cortisol concentration (HCC) and serum and urinary levels of cortisol in patients with CS.Objective: To determine correlations of segmental hair cortisol and biochemical markers of a referred cohort of patients for the eval...

ea0022h1.3 | Oral Communications Highlights 1 | ECE2010

ESE Young Investigator Award

Libe Rossella , Horvath Anelia , Fratticci Amato , Vezzosi Delphine , Coste Joel , Guillaud-Bataille Marine , Groussin Lionel , Clauser Eric , Sanson Marie Laure Raffin , Bertagna Xavier , Stratakis Constantine , Bertherat Jerome

Background: Cushing syndrome due to PPNAD is the main endocrine disorder of CNC, an autosomal dominant multiple neoplasia caused by germline inactivating mutations of the subunit type 1A (PRKAR1A) of the protein kinase A (PKA). In addition, germline inactivating mutations in the gene encoding phosphodiesterase 11A (PDE11A) have been identified in patients with PPNAD.Aim of the study: To investigate the role of PDE11A genetic alterati...