Endocrine Abstracts

Background: Patients with pheochromocytoma/paraganglioma (PPGL) often face difficulties in obtaining timely and accurate diagnosis, as well as in accessing experienced specialists. However, little is known about the experiences of patients in obtaining effective care.Methods: To address this gap and give voice to the patients, we invited potential participants, through social media, email, and the PheoPara Alliance (PPA) website, to complete a 20-min onl...

Introduction: Pheochromocytoma associated with pregnancy carries a great risk for adverse fetal and maternal outcome, especially when the diagnosis is missed. Symptoms can present in a wide variety regarding intensity and duration, making it difficult for the treating midwife or obstetrician to draw correct conclusions.Clinical Case: We present a case of a 29 years old patient whose third pregnancy was complicated by short, but frequent and intense spell...

This study examined whether different forms of hereditary pheochromocytoma are characterized by different catecholamine phenotypes and whether this is reflected by differences in plasma concentrations of normetanephrine, metanephrine and methoxytyramine – the respective O-methylated metabolites of norepinephrine, epinephrine and dopamine. Subjects included 154 patients with hereditary pheochromocytoma, 72 with tumors associated with von Hippel–Lindau (VHL) syndrome, ...

Introduction: Pheochromocytomas represent rare but potential lethal tumors arising from the adrenal medulla. Early recognition and diagnosis represent a challenge due to the non-specific character of signs and symptoms. The classic presentation includes headache, sweating, palpitations and other signs and symptoms of apparent catecholamine excess occurring in paroxysms. Sympathomimetics may result in a similar presentation, potentially complicating the diagnosis.<p class="...

Objective: To document influences of sampling of blood under supine fasting versus seated non-fasting conditions on diagnosis of pheochromocytoma using plasma concentrations of normetanephrine, metanephrine and methoxytyramine (P-NMN/MN/MTY).Design and methods: P-NMN/MN/MTY were measured by liquid chromatography with tandem mass spectrometry in 695 patients at five centers, two of which complied with requirements for supine sampling after an overnight fa...

Introduction: Phaeochromocytoma localisation is generally reliably achieved with modern imaging techniques, particularly in sporadic cases. Diagnostic doubt can arise due to the presence of bilateral adrenal abnormalities, particularly in patients with mutations in genes predisposing them to the phaeochromocytoma development. In such cases, surgical intervention is ideally limited to large or functional lesions due to the long-term consequences associated with hypoadrenalism. ...

Background: It is well established that life-long follow-up is required for patients with hereditary pheochromocytomas and paragangliomas (PPGLs), due to the potential of developing recurrent disease. However, whether follow-up of patients with sporadic PPGLs is necessary, remains unclear.Aims: To examine the prevalence and predictors of recurrent disease in patients with sporadic PPGLs.Materials and method: This multicenter study included retrospective ...

Introduction: Primary aldosteronism (PA) is mainly caused by unilateral aldosterone-producing adenomas (APA) or bilateral adrenal hyperplasia (BAH). Subtype differentiation relies on the invasive and technically challenging adrenal venous sampling (AVS). We recently demonstrated the potential utility of peripheral plasma steroid profiling by LC-MS/MS to distinguish APA and BAH. We tested the following hypotheses: first, if steroid profiling in combination with AVS, effectively...

Introduction: The regular diagnostic workup for primary aldosteronism (PA) can be very demanding and involves multiple invasive as well as time and cost intensive diagnostic tests. Here we have explored the value of urinary steroid metabolome analysis in the diagnosis and differential diagnosis of PA. Previously, urinary 3α,5β-tetrahydroaldosterone (THAldo) has been suggested as a reliable screening test for PA and serum 18-oxocortisol and 18-hydroxycortisol have bee...

Context: More reliable parameters than cortisol are needed for assessing correct catheter positioning during adrenal vein sampling (AVS). Plasma metanephrine represents one such alternative.Objective: To determine the utility of adrenal venous (AV) plasma concentrations of metanephrine to establish correct catheter positioning during AVS.Design and methods: We included 86 AVS procedures: 52 ACTH-stimulated and 34 non-stimulated seq...