Endocrine Abstracts

Introduction: The aim of this study was to examine whether the distribution of SHBG (TAAAA)n repeat variants contributes to the exposure of the female fetus to androgen excess, by influencing the, in utero, androgen availability.Methods: The study population consisted of 100 pregnant women that carried female fetuses and underwent the procedure of amniocentesis due to age (older than 35). Blood samples and amniotic fluid samples were dr...

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...

Objective: Patients with adrenal insufficiency (AI) have been found to have increased cardiovascular morbidity, partly associated with nonphysiologic glucocorticoid replacement.Design: We included two separate cohorts (cohort 1 and 2) of patients with chronic primary and secondary AI under standard replacement therapy and compared them to two age- and sex-matched population-based studies (SHIP-TREND/DEGS). Patient cohort 1 comprised 389 individuals asses...

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 ...

Background: Confirmation of primary aldosteronism (PA) with the saline infusion test (SIT) requires accurate measurements of plasma aldosterone, best achieved by mass spectrometry. Performance of the test and appropriate cut-offs remain inadequately defined.Design and methods: This prospective multicenter cohort study involved 451 patients with suspected PA who underwent a seated SIT. Among these, there were 90 and 76 in whom PA was respectively confirmed and excluded based on...

Background: Diagnostic stratification of patients with suspected primary aldosteronism (PA) is a multistep process reliant on tests that are not infallible. Only through prospective studies can diagnostic accuracy be appropriately assessed.Methods: The PROSALDO trial enrolled 819 patients between 2019 and 2023 to assess steroid profiles against routine tests for diagnostic stratification. A combination of these tests and outcome assessments, including me...

Introduction: Pheochromocytomas and paragangliomas (PPGLs) exhibit an up to 20% malignancy rate. Various clinical, genetic, and pathological features have been proposed as predictors of malignancy. However, until present there are no robust indices to reliably predict metastatic PPGLs.Aim: The aim of the present study was to prospectively validate the value of methoxytyramine as risk marker of metastatic disease and establish a machine learning (ML) mode...