Endocrine Abstracts

Introduction and Objective: Adult craniopharyngioma as a rare neoplasm of the central nervous system is still very poorly understood. The clinical implications for affected patients are numerous, ranging from endocrine dysfunction to visual loss and neurological impairment. Although the progress of this tumor entity is slow by nature, affected patients often suffer from multiple symptoms even after successful treatment with a strong impact on their individual quality of life. ...

Objective: The saline infusion test (SIT) is a standard confirmatory test for primary aldosteronism (PA) and based on impaired aldosterone suppression in PA compared to essential hypertension (EH). In the past, aldosterone was quantified using immunoassays (IA). Due to the more widespread use of liquid chromatography tandem mass spectrometry (LC-MS/MS) in clinical routine, we aimed at a method-specific aldosterone threshold for the diagnosis of PA during SIT and explored the d...

Background: The diagnosis of hyperaldosteronism is hindered by the absence of a well-defined gold-standard. CYP11B2 (aldosterone synthase) belongs to the steroid-metabolizing enzymes catalyzing the last step of the aldosterone synthesis. To establish a molecular marker for aldosterone-producing adenomas, we compared the expression in various adrenal tumors.Methods: Tissue from 20 aldosterone-producing adenomas (APA), 12 hyperplasias associated with hyper...

Introduction: The aim of the present study was to explore pain prevalence, pain locations and its impact on everyday activities and health-related quality of life (QoL) in a large cohort of patients with acromegaly.Methods: We conducted a survey at three major centers specialized on the treatment of pituitary diseases. 124 patients with acromegaly (mean age 56.6y ± 13.5) filled in a self-constructed questionnaire on acromegaly symptoms, pain includi...

Recently, somatic, heterozygous mutations in the gene encoding the deubiquitinase USP8 have been identified in 30–60% of corticotroph tumors. These mutations were found to hinder binding of 14-3-3 proteins, increasing its deubiquitinating activity. One substrate is Epidermal Growth Factor Receptor (EGFR), USP8 triggering EGFR recycling and increased EGFR signaling. However, tumors harboring mutations in USP8 are smaller than WT tumors, raising the debate if EGFR, as a pot...

Background: Endogenous Cushing’s syndrome (CS) is rare with an estimated yearly incidence of 1–3 patients/million. CS describes a group of diseases that have in common an excess secretion of glucocorticoids which results in a characteristic clinical phenotype. Severe courses of Cushing’s syndrome are characterized by a break-down of protein catabolism translating into clinical consequences including muscle weakness. While remission of CS is achievable by surgica...

Background: Cushing’s syndrome (CS) is a chronic disorder characterized by endogenous cortisol excess resulting in long-term metabolic and cardiovascular consequences. The identification of metabolic alterations related to hypercortisolism could be beneficial in tailoring treatments of co-morbidities. Our aim was to characterize the metabolic alterations of patients with hypercortisolism by targeted plasma metabolomic profiling.Methods: Subjects (<e...

Aim: To determine diagnostic performance of normetanephrine (NMN) and metanephrine (MN) measured by an enzyme immunoassay (EIA) compared with liquid chromatographic–tandem mass spectrometry (LC-MS/MS).Methods: Subjects included 341 patients (174 males) with a mean age of 52 year (range 13–86) tested for PHEO, which was confirmed in 54 patients. Samples where collected from fasting patients after 30 min of supine rest and analyzed for NMN, MN an...

Introduction: Hypophysitis is a frequent side effect of oncologic immunotherapy. The recommended standard treatment is systemic high-dose corticosteroids (HDS), however, recent studies have questioned the benefits of this treatment. We sought to examine the effect of HDS on immunotherapy-induced hypophysitis (IH) in a multi-centric cohort.Methods: Medical records of 41 patients with IH treated by specialist endocrinologists at three tertiary referral cen...

Plasma aldosterone concentration (PAC) to active renin concentration (ARC) ratio (ARR) is an established screening tool for primary aldosteronism. Previously we provided reliable cut-offs measuring PAC by a radioimmunoassay (RIA; Byk&DiaSorin) und ARC by an established immunoluminometric assay (Nichols Institute Diagnostics). Since the latter one is not longer available, we aimed to establish cut-offs for currently available assays.One hundred seven ...