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...

Background: Measurements of plasma metanephrines provide a sensitive test for diagnosis of pheochromocytoma/paraganglioma (PPGL). However, false positive results can pose a diagnostic dilemma for clinicians. The aim of the study was to determine whether commonly prescribed drugs with potential action on the sympathetic nervous system can falsely elevate plasma free normetanephrine, metanephrine and methoxytyramine.Methods: This retrospective study includ...

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: Current guidelines recommend adrenal vein sampling (AVS) for the identification of surgically treatable unilateral disease among patients with primary aldosteronism (PA). The cortisol-derived selectivity index (SI) is currently used to assess the success (or selectivity) of adrenal vein catheterization during AVS. However, AVS studies can be non-selective in many cases.Aim: To examine whether the use of SI derived either from 11-deoxycortisol...

Introduction: Currently, it is unclear whether plasma free or 24-hour urinary metanephrines are preferable for diagnosis of pheochromocytoma/paraganglioma (PPGL) in children.Objectives: To investigate whether measurements of plasma free or 24-hour urinary fractionated metanephrines is a reliable test for screening for PPGL in children.Methods: This retrospective study included data from 60 children with and 78 without PPGL. Data in...

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 ...