Endocrine Abstracts

Background: Mitotane antitumor efficacy is related to plasma levels. Objective responses have been associated with mitotane plasma levels >14 mg/l. However, high plasma levels >20 or >30 mg/l are at higher risk of toxicity, especially neurotoxicity. National-based survey is lacking to evaluate the frequency and severity of high mitotane plasma levels. Our aim was to retrospectively describe serious adverse events (SAE).Methods: Mitotane plasm...

Study aim: Pituitary function evaluation in patients with traumatic brain injury (TBI).Subjects: One hundred and forty-six patients (49 female, 97 men, age: 31.9±16.2 years) recovered from moderate to severe TBI. Prospective follow up has been performed 3/6 and 12 months from TBI for 79 subjects. Retrospective evaluation (from 0.3 to 30 years) included 67 subjects selected in front of overt clinical features (obesity, fatigue, sexual disorders)....

Chronic exposure to hypercortisolism has a significant impact on patient’s health and Health-Related Quality of Life (HRQoL), as demonstrated with generic questionnaires. Objective: Develop and validate a disease-generated questionnaire to evaluate HRQoL in patients with Cushing’s syndrome-CS- (Cushing QoL). Methods: After a literature review, interviews with expert endocrinologists and 10 patients identified HRQoL domains and clinical aspects of the disease; an anal...

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: Adrenal incidentalomas (AI) are found in approximately 5% of the adult population. Most AIs are benign; however, small-scale studies have indicated that 20–50% of patients harbouring a benign AI show biochemical evidence of mild autonomous cortisol excess (MACE), previously termed subclinical Cushing’s syndrome. MACE is differentiated into MACE-1 (serum cortisol after overnight suppression with 1 mg dexamethasone (1 mg-DST) 50–140 nmol/l) and MACE-2 ...

Background: Adrenal incidentalomas (AI) are found in approximately 5% of the adult population. Most AIs are benign; however, small-scale studies have indicated that 20–50% of patients harbouring a benign AI show biochemical evidence of mild autonomous cortisol excess (MACE), previously termed subclinical Cushing’s syndrome. MACE is differentiated into MACE-1 (serum cortisol after overnight suppression with 1 mg dexamethasone (1 mg-DST) 50–140 nmol/l) and MACE-2 ...

Introduction: Bilateral Macronodular Adrenocortical Disease (BMAD) is a rare cause of Cushing syndrome due to bilateral adrenocortical macronodules. Germline inactivating variants of the tumor suppressor gene ARMC5 have been described by our group 10 years ago and are responsible for 20-25% of apparently sporadic BMAD cases and 80% of familial presentations. ARMC5 patients present with a more pronounced phenotype than wild-type patients, in terms of cortisol ...

Objective: Carney Complex (CNC) is a rare hereditary genetic syndrome, mostly due to inactivating pathogenic variants of the tumor suppressor gene PRKAR1A. It has a wide spectrum of manifestations with frequent pigmented skin lesions, cardiac myxomas, primary pigmented nodular adrenocortical dysplasia, acromegaly and thyroid cancers. Breast benign tumors (fibroadenomas, ductal adenomas and myxoid lesions) have been associated with CNC, but so far, association with mal...

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...