Searchable abstracts of presentations at key conferences in endocrinology

ea0056s17.2 | Recent advances in Primary Adrenal Macronodular Hyperplasia | ECE2018

Genetics of Primary Bilateral Macronodular Adrenal Hyperplasia: when and what to test

Libe Rossella

Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) consists of bilateral development of adrenocortical macronodules causing various level of cortisol excess independently of circulating ACTH. It can be diagnosed after investigations of clinical signs of Cushing’s syndrome, but nowadays more often after the investigation of an adrenal incidentaloma in patients with sub-clinical Cushing. Indeed, 10 to 15% of adrenal incidentalomas are bilateral, corresponding mostly...

ea0063p418 | Adrenal and Neuroendocrine Tumours 2 | ECE2019

Contribution of morphological and functional liver imaging to differentiate liver metastases of adrenocortical carcinoma from those of neuroendocrine tumors in a woman with a final diagnosis of multiple endocrine neoplasia type 1

Cirederf Ingrid , Paepegaey Anne-Cecile , Glaude Eddy , Belia Lyonel , Diedhiou Abdoulaye , Libe Rossella , Velayoudom Fritz-Line

A 44-year-old woman was admitted for diabetic ketoacidosis and severe hypertension. She had aggressive clinical features related to Cushing’s syndrome (CS). ACTH-independent CS was diagnosed based on undetectable ACTH (0.65 pmol/L) and unsuppressed cortisol levels by dexamethasone (6363 nmol/L). Adrenal contrast-enhanced computed tomography (CT) scans showed a 15x12x20 cm heterogeneous mass of the left adrenal that pushed back the spleen and the left kidney with thrombosi...

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...

ea0020s23.2 | Adrenocortical tumours – pathogenesis and management | ECE2009

Aberrant receptors (AR) in adrenal Cushing's syndrome

Libe Rossella , Groussin Lionel , Assie Guillaume , Bertagna Xavier , Chabre Olivier , Lefebvre Herve , Bertherat Jerome

Some elegant clinical observations of dysregulated cortisol-secretion in cases of ACTH-independent macronodular hyperplasia (AIMAH) and more rarely adrenocortical adenomas (ACA) have led to the concept of ‘aberrant’ or ‘illegitimate’ membrane receptors (AR) in adrenal Cushing syndrome. It this situation cortisol secretion is regulated by an extra-cellular ligand that usually does not stimulate cortisol secretion in normal adrenals. This abnormal response mi...

ea0063p826 | Adrenal and Neuroendocrine Tumours 3 | ECE2019

The French COMETE-Cancer network for adrenal cancer: 10 years of activity as part of a national plan for clinical care of rare cancers

Libe Rossella , Tabarin Antoine , Chabre Olivier , Laboureau Sandrine , Goichot Bernard , Vezzosi Delphine , Lefebvre Herve , Verges Bruno , Niccoli Patricia , Vanthyghem Marie-Christine , Baudin Eric , Bertherat Jerome

Introduction: The French National Institute of Cancer (INCa) launched supported by the Ministry of Health in 2008 a program for the recognition of national networks for the management of rare cancers. Among the 23 selected networks COMETE-Cancer was recognized by INCa in 2009 for Adrenocortical carcinoma (ACC) and malignant pheochromocytoma/paraganglioma (MPP). At that time 60–120 new ACC/year and 30 new MPP/year were expected at the national level....

ea0037oc1.2 | Adrenal 1 | ECE2015

Functional study of ARMC5 (armadillo repeat containing 5), a new tumour suppressor gene involved in primary bilateral macronodular adrenal hyperplasia

Drougat ludivine , Espiard Stephanie , Doly Stephane , Rodriguez Stephanie , Rizk-Rabin Marthe , Libe Rossella , Assie Guillaume , Marullo Stefano , Ragazzon Bruno , Bertherat Jerome

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) are adrenocortical tumors leading to adrenal Cushing’s syndrome. Recently, our laboratory has identified the first gene predisposing frequently to PBMAH in adults, named ARMC5 (Armadillo Repeat Containing 5)1. The ARMC5-inactivating mutations identified in leucocyte and tumour DNA in PBMAH patients suggest that ARMC5 is a tumour suppressor gene. However, the mechanisms of action of ARMC5 remain unkno...

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...

ea0016s14.3 | Basic highlights | ECE2008

Variants of the phosphodiesterase 11A (PDE11A4) gene and genetic predisposition to adrenocortical tumors (ACT)

Libe Rossella , Fratticci Amato , Coste Joel , Groussin Lionel , Horvath Anelia , Rene-Corail Fernande , Bertagna Xavier , Raffin Sanson Marie-Laure , Stratakis Constantine , Bertherat Jerome

Introduction: We have previously identified (using a whole-genome large scale SNP- screening approach) germline inactivating stop codon mutations of the PDE11A4 in patients with Cushing syndrome due to micronodular adrenal hyperplasia. PDE11A4 is a cAMP/cGMP phosphodiesterase.Aim of the study: To investigate the role of PDE11A genetic alterations in a large cohort of ACT.Materials and methods: Leukocyte DNA from 117 adrenocortical ...

ea0073pep11.5 | Presented ePosters 11: Adrenal and Cardiovascular Endocrinology | ECE2021

Pre-operative hypercortisolism and post-operative adrenal insufficiency in pheochromocytomas: a single center retrospective analysis of 168 patients

Kourti Eleni , Fideline Bonnet , Vaczlavik Anna , Libe Rossella , Bessiene Laura , Guignat Laurence , Sibony Mathilde , Groussin Lionel , Dousset Bertrand , Assié Guillaume , Bertherat Jerome

IntroductionPheochromocytoma might be associated with hypercortisolism and post-operative adrenal insufficiency. The aim of this study is to determine the frequency of cortisol dysregulation before and after pheochromocytoma surgery.MethodsSingle center retrospective study of consecutive pheochromocytoma patients investigated in the Endocrinology department of Cochin Hospital before and after surgery from 200...

ea0063oc10.3 | Adrenal 2 | ECE2019

Genetic predisposition to Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH): next generation sequencing ARMC5, NR3C1 (glucocorticoid receptor) and PDE11A4 (phosphodiesterase 11) in 389 patients

Vaczlavik Anna , Vaduva Patricia , Bouys Lucas , Neou Mario , Septier Amandine , Heurtier Victor , Libe Rossella , Kroiss Matthias , Borson-Chazot Francoise , Chanson Philippe , Vanthyghem Marie-Christine , Tabarin Antoine , Assie Guillaume , Stratakis Constantine , Fragoso Maria , Ragazzon Bruno , Bertherat Jerome

Introduction: PBMAH is an heterogeneous disease from the clinical, hormonal, and morphological point of view. ARMC5 inactivating mutations have been reported as a cause of PBMAH. PDE11A4 variants have been associated with PBMAH and NR3C1 variants with bilateral adrenal incidentalomas.Aim: To analyse the frequency of ARMC5 pathogenic mutations and PDE11A4 and NR3C1 variants in PBMAH patients.<p cla...