Endocrine Abstracts

Context: Premature ovarian insufficiency (POI) affects approximately 1-3% of women. Clinical presentations are heterogeneous and the underlying etiologies remain unknown in the majority of cases.Objective/aim: To characterize presentations of POI and to evaluate the distribution of underlying etiologies in women with newly diagnosed POI of unknown cause.Design: Prospective study of 100 women with newly diagnosed POI. Autoimmunity w...

Background: Primary aldosteronism (PA) patients have increased left ventricular mass (LVM) and increased cardiovascular morbidity compared with those with essential hypertension. Echocardiographic studies have demonstrated that adrenalectomy or spironolactone decreases LVM. The aim of the present study was to use MRI to assess both LVM and cardiac function before and during stress testing, at baseline and after treatment with adrenalectomy or spironolactone, compared with heal...

The current conventional glucocorticoid (GC) replacement therapy in primary adrenal insufficiency (Addison’s disease) and congenital adrenal hyperplasia (CAH) renders the cortisol levels unphysiological, resulting in very high levels alternating with almost undetectable levels of cortisol over the day. This reduces not merely the patient’s quality of life but increases the patient’s morbidity and mortality. The HPA axis is characterised by a dynamic circadian va...

Background: Autoimmune polyendocrine syndrome type 1 (APS1) is a disorder caused by mutations of the autoimmune regulator (AIRE) gene, that controls central tolerance. Tetrahydrobiopterin (BH4)-dependent hydroxylases, consisting of tryptophan hydroxylase (TPH1 and TPH2), tyrosine hydroxylase (TH) and phenylalanine hydroxylase (PAH) are commonly targeted autoantigens. Nevertheless, detailed characterization of their epitopes and independent roles of TPH isoforms has ...

Many patients with primary adrenal insufficiency (Addison’s disease) take extra doses of glucocorticoids before or during stressful events, but benefit has not been demonstrated. We aimed to test the effect of an extra dose of glucocorticoids on cardiorespiratory, hormonal and metabolic parameters in response to physical activity in a randomised placebo-controlled, 2-weeks cross-over, clinical trial (clinicaltrials.gov NTC01847690). Ten women with Addison’s disease a...

BackgroundResidual adrenocortical function (RAF) is present in one third of patients with autoimmune Addison’s disease (AAD), yet its clinical significance remains unknown.ObjectiveTo investigate if biomarker profiles of cardiovascular disease and inflammation are different in patients with AAD and RAF compared to patients without RAF and healthy controls.Material and methods<p...

BackgroundPrenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding longterm adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21hydroxylase def...