Endocrine Abstracts

Steroid profiling by liquid chromatography–tandem mass spectrometry (LC–MS/MS) offers an accurate and simultaneous detection of a panel of steroids with several advantages over traditional assays. However, only a few studies have investigated the steroid profiling in sporadic adrenocortical adenomas. Our aim was therefore to investigate steroid secretion by LC–MS/MS in patients with non-secreting adrenocortical adenomas (NSA) and subclinical hypercortisolism (SH...

Objective: Urinary cortisol and metabolites represents total cortisol production and metabolism. We assayed these metabolites to compared the information that could be extracted compared to the one provided by a sole cortisol assay.Design and patients: An inexpensive multiplex mass spectrometry assay was set up to quantify cortisol and its metabolites in 43 patients with benign secreting (AT+) or silent (AT−) adrenal tumours compared to 48 lean (Nl...

Recently, mutations in the PRKACA (catalytic subunit α of the PKA) gene have been identified as causative in 35% of adrenocortical adenomas (ACA) with overt Cushing’s syndrome (Beuschlein et al. 2014). These mutations lead to constitutive activation of PKA signaling and subsequently to an excessive production of cortisol. Protein kinase A is a heterotetramer consisting of two catalytic and two regulatory subunits with several isoforms (Cα, β, &#947...

Background: Adrenal incidentalomas are found in 3–7% of radiological series and many of them are adrenal adenomas. Autonomous cortisol secretion without clinical signs of overt hypercortisolism is a common finding in these patients. Studies reported metabolic derangement and increased cardiovascular risk associated with this state of subtle cortisol excess, however scanty data are available on the natural history of this condition.Aim: To assess the...

Adrenocortical carcinoma (ACC) is a rare tumour characterised by a high rate of recurrence following radical surgery. Surgery of recurrent ACC may increase survival; thus, it is mandatory a timely and accurate detection of recurrence, either to increase the chance of radical extirpation or to avoid unnecessary surgery. This study investigated the role of PET–CT in the diagnosis of recurrence of ACC during follow-up of disease-free patients and analyzed whether this tool m...

Introduction: FKBP5 is a protein that regulates glucocorticoid receptor sensitivity, via an ultra-short negative feedback mechanism. Variations in the FKBP5 gene can influence the response to glucocorticoids (GC). Hypercortisolaemia plays a role on impairment of brain function and could be mediated by epigenetic variations of the FKBP5 gene. Cushing’s syndrome (CS), a disease characterized by hypercortisolaemia, is associated with memory deficits, lower ...

Introduction: Urinary free cortisol (UFC) determination has suboptimal sensitivity (SE) and specificity (SP) especially in mild Cushing’s syndrome (CS).Aim: To determine the performance of UFC and its metabolite cortisone (UFE) measured using accurate assays such as HPLC and LC–MS/MS in diagnosing patients with CS.Patients and methods: Sixty-seven patients with CS were compared to 49 sex- and age-matched non-CS. UFF and U...

Phaeochromocytomas are responsible for the development ACTH-ectopic syndrome in 5% cases. Less than 1% phaeochromocytoma accompanied by symptoms of ACTH-dependent hypercortisolism. We observed four cases of ACTH-secreting phaeochromocytoma during 2 years. All patients were women from 50 to 63 years. The disease duration ranged from 6 months to 5 years. The clinical picture presented the signs of hypercortisolism (matronism, hyperpigmentation of the skin, the redistribution of ...