Endocrine Abstracts

Context11-oxygenated C19 steroids have recently gained attention as markers of androgen control in congenital adrenal hyperplasia (CAH) due to 21hydroxylase deficiency (21OHD). However, they have not yet been systematically investigated in the context of different glucocorticoid (GC) replacement regimens and in particular not in patients receiving new modified-release formulations.MethodsCross-sectional singl...

BackgroundCongenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder characterized by insufficient cortisol production resulting in excess adrenocorticotropic hormone (ACTH) and adrenal androgen production. Standard-of-care therapy with glucocorticoids (GC) is suboptimal due to the difficulty of balancing control of the ACTH-driven androgen excess against the serious long-term side effects associated...

ContextPrenatal dexamethasone (Dex) therapy is used in female foetuses with congenital adrenal hyperplasia (CAH) to suppress adrenal androgen excess and prevent virilisation of the external genitalia. The prenatal dexamethasone dose of 20 µg/kg per day has been used for decades in prenatal CAH and is associated with risks for the treated mother and potentially for the unborn child. Despite the high medical need, no prospective, clinical studies had ...

IntroductionOncocytic neoplasms arising in adrenal tissue are extremely rare with nearly 150 cases being reported in literature. They are mostly nonfunctioning benign tumors, incidentally discovered, but 20% of them demonstrate elements of malignancy and up to 30% appear to affect hormone production.Case reportA 35 years old female with primary amenorrhea, diagnosed with Congenital Adrenal Hyperplasia due to ...

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 ...

BackgroundARMC5 is a putative tumor suppressor gene that is frequently mutated in primary bilateral macronodular adrenal hyperplasia (PBMAH), a rare cause of Cushing’s syndrome. The function of ARMC5 is poorly known, aside the fact that it regulates cell apoptosis and adrenal steroidogenesis in by mechanisms still unknown. Tumor suppressor genes play an important role in oxidative stress.MethodsIn this s...

BackgroundMitotane represents the first-line medical treatment in most patients with adrenocortical carcinoma (ACC). Although adverse effects (AEs) due to mitotane are known to be frequent and may limit treatment, few systematic data are available. Aim of the study was to evaluate the AEs in ACC patients treated with mitotane monotherapy.MethodsA retrospective multicenter study including 311 ACC patients (M:F...

Adrenal insufficiency is serious, life-threatening condition. Classical features include nausea, malaise, weight loss and hypotension. It is usually diagnosed at a late stage only when it presents as adrenal crisis. We report a patient with autoimmune adrenal insufficiency who presented with chronic hyponatremia and a repeatedly normal serum cortisol level. A 66-year-old female was referred to endocrinology with a 12-month history of hyponatraemia (Na 125–131 mmol/l). She...