Endocrine Abstracts

Introduction: MSC is a simple and reliable mean to diagnose hypercortisolism, yet its value to asses the outcome of treatment has rarely been addressed.Objective: Compare MSC and other classical parameters, to assess the outcome of TSS in CD.Patients and methods: Sixty-eight patients from a single Center operated for CD between 1996 and 2006. Outcome was assessed between 6–12 months post TSS. Remission was defined as: morning ...

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...

Introduction: Biological diagnosis of Cushing syndrome relies on three parameters: 24 hours-free urinary cortisol; serum cortisol after 1 mg dexamethasone suppression test; late-night serum or salivary cortisol. These tests allow the diagnosis of cortisol excess but do not help in etiological diagnosis, particularly in the distinction between pseudo-Cushing and ACTH-dependent Cushing syndrome, which is often challenging. The aim of this study was to evaluate the performances o...

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...

Objective: Large response of steroids precursors, including 17-hydroxyprogesterone and 11-deoxycortisol, to ACTH has been described in adrenocortical tumors, suggesting the existence of intra-tumoral enzymatic deficiencies. This study aimed to compare steroidogenic enzymes activity in unilateral and bilateral benign tumors using serum steroid profiling in HPLC-MS/MS in basal state and after ACTH 1-24 stimulation.Design and Methods: A serum profile of sev...

Introduction: The gold standard for insulinoma diagnosis is still 72-hours fasting trial with the aim to trigger Whipple’s triad. In this context, biological diagnosis of endogenous hyperinsulinism relies on the occurrence of a hypoglycemia, concomitant with inadequate high insulin and C-peptide levels. However, diagnostic cut-offs are not consensual among the different learned societies (Endocrine Society 2009, NANETS 2010, ENETS 2012). The objective of this wor...

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) are benign adrenocortical disease responsible for benign tumors and cortisol autonomous secretion. There is a broad spectrum of clinical, imaging and hormonal presentations. Aberrant membrane receptor expression is frequent, the most characteristic example being the food dependent Cushing syndrome due to ectopic expression of the GIP receptor (GIP-R). In 20 to 25 % of these patients, inactivating heterozy...

Background: Osilodrostat is a potent oral inhibitor of the adrenal enzymes aldosterone synthase and 11b-hydroxylase and decreases glucocorticoid and mineralocorticoid production and secretion. Phase 2 and 3 studies from the osilodrostat clinical trial programme have demonstrated the drug’s efficacy and safety in patients with Cushing’s disease. Osilodrostat received European Marketing Authorization (MA) for the treatment of Cushing’s syndrome (CS) in adults....

Background: APECED syndrome is a rare monogenic disease caused by homozygous mutation of AIRE gene. It classically presents with chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP), and adrenal insufficiency (AI) with an early onset in childhood. Non-endocrine manifestations as ectodermic dystrophy, asplenism and pneumonitis are also observed but their incidence remains unknown and their mechanisms not well understood. APECED has been poorly reported in France alt...

Introduction: ACTH-independent macronodular adrenal hyperplasia (AIMAH) is often an incidental finding, but may be diagnosed in patients with Cushing’s syndrome. We have recently identified germline mutations in the armadillo repeat containing 5 gene (ARMC5) in AIMAH patients, associated with somatic second hits specific of each AIMAH nodule ( Assié et al, NEJM, 2013). The aim is to characterize the prevalence of ARMC5 mutations in AIMAH patients and the gen...