Endocrine Abstracts

Background: Benign adrenal tumours (AT) can be non-functioning (NFAT) or associated with cortisol excess, as indicated by failure to suppress serum morning cortisol to <50 nmol/l in the 1mg-dexamethasone suppression test (1 mg-DST). The latter group divides into patients with clinically overt signs of cortisol excess (adrenal Cushing’s syndrome, CUSH) and patients lacking CUSH signs (mild autonomous cortisol excess, MACE). Smaller series and a recent meta-analysis rep...

Introduction and rationale: Cushing’s syndrome (CS) is a rare disease with hypercortisolism caused either by ACTH excess from a pituitary or non-pituitary tumor or by an ACTH-independent primary adrenal overproduction of cortisol. It is associated with significant comorbidities potentially lethal: hypertension, diabetes, coagulopathy, cardiovascular disease, infections, and osteoporotic fractures. It is usually managed by surgery and/or medical treatment with steroidogene...

Background: Adrenocortical cancer (ACC) is an aggressive tumour with heterogeneous prognosis. Recently integrated genomics reported distinct genomic alterations: transcriptome “C1A” (high expression of proliferation/cell cycle-related genes) vs “C1B”, “CIMP” (CpG islands hypermethylation) vs “non-CIMP”, chromosome alterations “Noisy” (numerous and anarchic alterations) vs “Chromosomal” (extended patterns of loss of he...

Recent pan-genomic analyses of tumor DNA identified specific patterns of DNA methylation –e.g. CpG islands hypermethylation in the promoter regions of genes- as pejorative prognostic markers in adrenocortical cancer (ACC). Integrated genomics clearly shows that ACC with such an hypermethylation belongs to specific subgroups of ACC with increased driver genes alterations and a poor survival.Aim: To confirm the prognostic value of this methylation pat...

Introduction: Carney Complex (CNC) is a rare genetic syndrome, with multiple endocrine and non-endocrine neoplasia, mostly due to inactivating mutations of the PRKAR1A gene. CNC has a wide spectrum of manifestations : most frequently skin lesions, cardiac myxomas and primary pigmented nodular adrenocortical dysplasia (PPNAD), but also thyroid nodules, schwannomas, breast tumors (mainly myxoid fibroadenomas and ductal adenomas)… The present study was designed to ...

Introduction: Results of the first European real-world evidence from retrospective cohort of ACRONIS study previously confirmed the efficacy and tolerability of LA-PAS in heavily pre-treated, uncontrolled acromegaly patients. Here, we report results of the second interim analysis reflecting the prospective cohort.Methods: Patients who were treated with LA-PAS for ≥6 months were included in this analysis. The primary objective was to document treatm...

Introduction: The prognosis of stages III–IV ACC patients is dismal. The 5-year survival of stage IV ACC ranges between 0 and 13% and no prognostic study has focused on stage III, yet. Several reports suggest a greater heterogeneity of advanced ACC prognosis that initially thought.Aim: The primary objective of our study was to analyse the prognostic factors of overall survival of the subgroup of advanced unresectable stage III–IV ACC patients c...

Background: Patients with active Cushing’s syndrome (CS) have increased mortality.Aims: Evaluate cause of death in a large cohort of CS patients, and establish factors associated with increased mortality.Methods: We analysed 1514 patients included in the European Registry on Cushing’s syndrome (ERCUSYN): 1022 (68%) had pituitary-dependent CS (PIT-CS), 379 (25%) adrenal-dependent CS (ADR-CS), 71 (5%) had an ectopic source ...

IntroductionPrimary bilateral macronodular adrenal hyperplasia (PBMAH), the most common cause of adrenal Cushing’s syndrome due to bilateral adrenal tumors, is an heterogenous disease with various clinical, hormonal and morphological characteristics. ARMC5 inactivating mutations is the most frequent genetic cause of PBMAH and variants of PDE11A4 have been associated with the disease. In order to better understand the heterogeneity ...

BackgroundBenign adrenocortical tumours are found in 3–5% of adults and can be non-functioning (NFAT) or associated with cortisol excess. The latter group divides into patients with clinically overt signs (adrenal Cushing’s syndrome, CS) and patients lacking CS signs (mild autonomous cortisol excess, MACE). The 1 mg-overnight dexamethasone suppression test (DST) further differentiates MACE into MACE-1 (possible MACE; post-DST cortisol 50–1...