Endocrine Abstracts

Background: Adrenal masses are discovered in 5% of abdominal imaging scans. Work-up aims at exclusion of malignancy and hormone excess. However, estimates of these risks derive from retrospective studies only, mostly small and with significant selection bias.Methods: Prospective multi-centre study (2011–2016) in 14 centres (11 countries) of the European Network for the Study of Adrenal Tumours (ENSAT) with prospective consecutive enrolment of patien...

BackgroundStandard glucocorticoid (GC) therapy in classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD-CAH) is often inadequate in controlling adrenal androgen excess, leading to GC over-exposure and poor health outcomes. A novel modified-release formulation of hydrocortisone (MR-HC, Chronocort® Diurnal Ltd. UK) has been shown to improve circulating adrenal androgen excess in 21-OHD-CAH. We investigated whether saliva and ...

Objectives: Anaplastic thyroid cancer (ATC) is one of the deadliest cancers, with a median overall survival (OS) of 4 months and a disease-specific mortality of ˜100%. Although to date no effective treatment can cure the disease, some anecdotal cases achieved longer survival and very rarely the cure of the disease. Multimodal treatment with surgery, radiotherapy, multikinase inhibitors (MKI) could improve survival in ATC, particularly when surgery is not feasible.<p c...

Introduction: The combination of dabrafenib (BRAF inhibitor) and trametinib (MEK inhibitor) was approved by the Food and Drug Administration in USA as first line treatment for BRAF-positive anaplastic thyroid cancer. Moreover, it was also available as second line treatment in BRAF-positive advanced thyroid cancers, previously treated with other systemic treatments.Purpose: We evaluated the efficacy and safety of the combination therapy with dabrafenib an...

Background: Adrenal tumours are found in 3-7% of adults. The European guidelines on management of adrenal incidentalomas (first published in 2016 and recently updated) have standardised the management of these patients, but evidence of guideline impact on clinical care is lacking.Methods: Retrospective review of the mode of presentation, radiological characteristics and final diagnosis of a large cohort of patients with ...

Introduction: Up to 3-7% of adults have an adrenal incidentaloma. These are most frequently non-functioning adenomas (NFA) but can be associated with adrenal hormone excess. According to the ESE-ENSAT guidelines on adrenal incidentalomas (2016), an accurate endocrine work-up is recommended.Methods: We provide an extensive retrospective analysis of patients with adrenal tumours referred to a large UK tertiary centre betwe...

Background: Pheochromocytoma is associated with systemic inflammation, but the underlying mechanisms are unclear. Hypothesising a putative effect of catecholamines on immune cells, we investigated the relationship between plasma metanephrine levels and haematological parameters – as surrogates for systemic inflammation – in patients with pheochromocytoma. Moreover, we aimed to assess the influence of preoperative α-blockade treatment on the inflammation-based sc...

Background: Adrenocortical adenomas (ACA) can be associated with different degrees of cortisol excess. Genetic alterations in the cAMP/PKA pathway are observed in up to 60% of cases with overt Cushing syndrome (CS-ACA) and 15% of cases with mild autonomous cortisol secretion (MACS-ACA), while variants in the gene coding for β-catenin (CTNNB1) are more frequent in MACS-ACA and non-functioning adrenal tumours (NFAT). We aimed to test whether somatic variants could ...

Background: The gonads are the major source of classic androgens during reproductive years. Additionally, the adrenal gland produces precursors for both classic and 11-oxygenated androgen biosynthesis, with androgen activation predominantly occurring in peripheral target tissues of androgen action. We used liquid chromatography-tandem mass spectrometry to profile classic and 11-oxygenated androgens in serum and saliva across the adult age range and assessed diurnal as well as ...

Introduction: First-line treatment for congenital adrenal hyperplasia (CAH) is hydrocortisone1. When adequate control is not achieved, prednisolone (or its prodrug prednisone) are often used. However, there has been no formal comparison of disease control in CAH comparing prednis(ol)one vs hydrocortisone and patients are often on a glucocorticoid dose that exceeds the guideline recommended dose of hydrocortisone (≤25 mg/day)1,2. We report an interim...