Endocrine Abstracts

Background: The human cytochrome P450 (CYP) 2W1 is involved in the metabolism of several endogenous substrates, including lysophospholipids and fatty acids. Using a polyclonal antibody, we previously demonstrated a high CYP2W1 immunoreactivity in adrenocortical tumors, particularly in those secreting steroids. The aim of the study was to better elucidate the relationship between CYP2W1 and steroid secretion in adrenocortical carcinoma (ACC) H295R cell line and in a larger seri...

Introduction: The need of a long-term follow-up in adrenal incidentalomas (AI) is debated and data on cardiovascular events (CVE) are lacking.Methods: In this retrospective study all patients referred to seven Italian Endocrine Centers for AI, without signs of hypercortisolism at baseline and with a ≥5 years follow-up (80.7±30 months, range 60–286), were enrolled. From 171 patients (121 F) aged 59.5±10.2 years (range 25–79) the ...

Background: Adrenal masses are discovered in 5% of abdominal imaging scans. Accuracy of currently available imaging tests to diagnose malignancy is poor. In a proof-of-concept study (JCE&M 2011;96(12):3775-84), we had demonstrated 90% sensitivity and specificity in detecting adrenocortical carcinoma (ACC) for urine steroid metabolomics, the combination of mass spectrometry-based steroid profiling and machine learning-based data analysis. This diagnostic performance is supe...

The cytochrome P450 2W1 (CYP2W1) is an orphan enzyme able to activate anticancer pro-drugs and to metabolise endogenous substances as fatty acids and lysophospholipids. Aim of the study was to evaluate the frequency of CYP2W1 polymorphisms in patients with adrenocortical carcinoma (ACC) and correlate it with the sensitivity to mitotane, which represents the only approved drug for the treatment of advanced ACC.Methods: A multicenter retrospective study in...

Background: The advances in next-generation sequencing (NGS) technologies and bioinformatic analysis have shed light on genetic alterations, either of germline or somatic origin, in many disorders, including adrenocortical diseases. However, our knowledge on genomic characteristics in benign adrenal tumors of serendipitous discovery (adrenal incidentalomas) remain scarce.The aim of this study was to understand the pathogenic role of germline variants in adrenal incidentalomas....

Background: A recent cross-sectional study showed that both comorbidities and mortality in patients with adrenal incidentaloma (AI) are tied to sex. However, only few longitudinal studies evaluating the development of arterial hypertension, hyperglycemia, dyslipidemia and bone impairment in patients with AI are available. The aim of this study is to analyze the impact of sex in the development of these comorbidities during long-term follow-up.Patients an...

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 ...

Background: The management of adjuvant mitotane therapy in patients with adrenocortical carcinoma (ACC) is challenging. Plasma mitotane concentrations>14 mg/l have been associated with efficacy in the treatment of advanced ACC; however, data in the adjuvant setting are mixed. Moreover, there is no consensus on how to assess the optimal exposure to mitotane and all the proposed methods have inherent limitations. We have recently proposed a new method analogous to what is es...

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...