Endocrine Abstracts

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 ...

Background: Benign adrenal tumours are discovered in 3-10% of adults and can be non-functioning (NFAT) or associated with adrenal hormone excess, most frequently mild autonomous cortisol secretion (MACS) defined by the failure to suppress cortisol after 1 mg dexamethasone overnight but lack of distinct signs of Cushing’s syndrome (CS). We found that MACS increases the prevalence and severity of type 2 diabetes and hypertension and primarily affects women (Ann Int Med. 202...

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...

Context: Primary hyperparathyroidism (PHPT) is a common endocrine disease, characterized by the chronic elevation of serum calcium (Ca) levels induced by a long-standing increase of PTH concentrations. PHPT includes mild-asymptomatic and symptomatic forms. Cinacalcet is effective in lowering serum Ca levels in PHPT, but is indicated solely in mild-asymptomatic PHPT meeting surgery criteria. Management of non-surgical mild-asymptomatic PHPT is still a debated issue.<p class...

Background: Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD-CAH) have poor health outcomes due to failure of currently available glucocorticoid preparations to control adrenocorticotropic hormone-driven androgen excess. We investigated whether modified-release hydrocortisone (MR-HC), which mimics the physiological circadian cortisol rhythm, could improve androgen control.Methods: 122 patients with 21-OHD-CAH ...