Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0016p60 | Adrenal | ECE2008

Intraadrenal production of ACTH in macronodular bilateral adrenal hyperplasia causing Cushing's syndrome: its role in the physiopathology of hypercortisolism

Louiset Estelle , Duparc Celine , Groussin Lionel , Bertherat Jerome , Bertagna Xavier , Kuhn Jean-Marc , Lefebvre Herve

Illicit expression of membrane receptors for circulating regulatory factors, such as GIP and LH receptors, has been well documented in ACTH-independent macronodular adrenal hyperplasias (AIMAHs) causing Cushing’s syndrome. In addition, we have observed an abnormal expression of serotonin, arginine vasopressin and ACTH in a subpopulation of steroidogenic cells in two AIMAH tissues. The aim of the present study was: (i) to investigate the presence of ACTH by immunohistochem...

ea0041gp202 | Thyroid - Translational & Clinical | ECE2016

Does mitotane influence free thyroid hormones levels? A possible explanation in vivo and in vitro

Blanchet Benoit , Clemence Leguy Marie , Le Monnier Aude , Habbas Halim , Claude Menet Marie , Groussin Lionel , Guibourdenche Jean

Mitotane (o.p’DDD, Lysodren) is used to treat adrenortical carcinoma and Cushing syndromes. It is catabolised into o.p’DDA and o.p’DDE. It is lowly protein-bound but its tropism for lipids is high. It has multiple side effects on the digestive gut increasing alkaline phosphatases and cholesterol. Patients treated with mitotane have been described as having decreased FT4 levels without any signs of hypothyroidism. We wanted to know whether this is due to an analy...

ea0022p47 | Adrenal | ECE2010

Genomic DNA alterations in adrenocortical tumors (ACTs): diagnostic and prognostic value

Assie Guillaume , Barreau Olivia , De Reynies Aurelien , Tissier Fredrique , Groussin Lionel , Bertagna Xavier , Bertherat Jerome , Clauser Eric

The outcome of ACTs can be determined by gene expression level at the RNA level. However RNA handling is challenging. In contrast tumor DNA is robust and therefore easier to use.Aim: To characterize the ACTs DNA alterations; to identify markers with diagnostic and prognostic value using tumor DNA.Methods: The mapping of chromosomal gains and losses of 60 ACTs (39 adenomas (ACAs), 21 carcinomas (ACCs)) was performed with CGH arrays ...

ea0081oc7.4 | Oral Communications 7: Pituitary and Neuroendocrinology 2 | ECE2022

HPLC-MSMS steroidogenic profiles in ACTH-dependent Cushing Syndrome patients treated by osilodrostat or metyrapone suggest differences in the spectrum of steroidogenic enzyme inhibition between the two CYP11B1 inhibitors in clinical care

Fideline Bonnet , Poirier Jonathan , Vaczlavik Anna , Laguillier-Morizot Christelle , Blanchet Benoit , Guignat Laurence , Bessiene Laura , Bricaire Leopoldine , Groussin Lionel , Assie Guillaume , Guibourdenche Jean , Bertherat Jerome

Introduction: Osilodrostat is a new 11 ß-hydroxylase inhibitor with a mode of action analogue to metyrapone. It has become increasingly used in recent years for treatment of Cushing’s Syndrome (CS). However, few in vivo studies are currently available to accurately compare both drugs characteristics. The objective of our study was to compare steroidogenic profiles in patients treated by either Osilodrostat or Metyrapone for ACTH-dependent CS.Me...

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...

ea0020htc3 | Hot topics: Clinical | ECE2009

ESE Young Investigator Award

Assie Guillaume , de Reynies Aurelien , Rickman David , Tissier Frederique , Groussin Lionel , Rene-Corail Fernande , Dousset Bertrand , Bertagna Xavier , Clauser Eric , Bertherat Jerome

Diagnosing malignancy and assessing the prognosis of adrenocortical tumors is challenging. The aim is to identify molecular predictors of malignancy and of survival.Patients and methods: Of 153 unilateral adrenocortical tumors were studied by microarray (n=92) or RT-qPCR (n=148). A 2-gene predictor of malignancy was built using the disease-free survival as the end-point in a training cohort (n=47), then validated in an independent va...

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 ...

ea0073oc9.5 | Oral Communications 9: Endocrine-Related Cancer | ECE2021

Reassessment of the diagnostic criteria of insulinoma: A retrospective monocentric cohort study of 72-h fasting trial in 124 patients

Fideline Bonnet , Devingenteuil Clara , Vaczlavik Anna , Bessiene Laura , Laguillier-Morizot Christelle , Assié Guillaume , Helen Mosnier-Pudar , Terris Benoît , Groussin Lionel , Guibourdenche Jean , Bertherat Jerome

IntroductionFasting trial remains the gold standard to confirm the diagnosis of insulinoma, based on low blood glucose level concomitant with inadequate high insulin level. However, diagnostic criteria are not consensual. Glycemia and insulin thresholds differ between the different consensus statements : endogenous hyperinsulism diagnosis relies on a glycemia < 3 mmol/l associated with an insulin level > 3 mUI/l in Endocrine Society guidelines (2009)...

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...