Searchable abstracts of presentations at key conferences in endocrinology

ea0073pep11.2 | Presented ePosters 11: Adrenal and Cardiovascular Endocrinology | ECE2021

Establishment of novel multidimensional models for the adrenal gland and adrenal tumors

Shapiro Igor , Peitzsch Mirko , Steenblock Charlotte , Bornstein Stefan , Constanze Hantel

The adrenal gland displays an important role in integrating neuronal, immune, vascular, metabolic and endocrine signals under a common organ capsule. The adrenal is the central organ of the stress response system, responsible for responses to acute and chronic stress stimuli and, thereby, playing a major role in numerous stress-related disorders. While for other diseases translational scientists developed programs to generate healthy cells to regenerate damaged tissues in pati...

ea0081p524 | Adrenal and Cardiovascular Endocrinology | ECE2022

HIF-2α is detrimental for the functioning of the adrenal medulla

Watts Deepika , Bechmann Nicole , Mohr Hermine , Kruger Anja , Pellegata Natalia S. , Eisenhofer Graeme , Peitzsch Mirko , Wielockx Ben

The adrenal gland is a crucial regulator of numerous fundamental biological processes and its hormones are essential for maintaining homeostasis in normal and stressful situations. However, the impact of hypoxia signalling on the function of the adrenal remains poorly understood. During the past years, our research group has focused on enhancing our understanding of hypoxia pathway proteins (HPPs) in the different areas of the adrenal gland. Firstly, we described a crucial rol...

ea0081ep55 | Adrenal and Cardiovascular Endocrinology | ECE2022

The asymmetric adrenal in mice and men: Sexual dimorphism and potential hormonal consequences

Bechmann Nicole , Moskopp Mats Leif , Watts Deepika , Steenblock Charlotte , Kanczkowski Waldemar , Wielockx Ben , Bornstein Stefan R , Peitzsch Mirko , Eisenhofer Graeme

Evidence indicates that the adrenals are sexually dimorphic and asymmetric. These differences may have implications for the prevalence and progression of adrenal diseases, which also show asymmetry and sexual dimorphism. The present study aims to characterize the morphological and metabolic differences associated with adrenal sex and asymmetry in mice and humans. Adrenals were compared bilaterally in male and female C57B/6NRj mice with regard to morphological and hormonal char...

ea0063p56 | Adrenal and Neuroendocrine Tumours 1 | ECE2019

A difficult diagnosis: pheochromocytoma or methamphetamine abuse?

Constantinescu Georgiana , Leike Steffen , Kunath Carola , Langton Katharina , Gruber Matthias , Peitzsch Mirko , Deinum Jaap , Lenders Jacques , Eisenhofer Graeme

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="...

ea0032p512 | Endocrine tumours and neoplasia | ECE2013

Biochemical diagnosis of pheochromocytoma using plasma free normetanephrine, metanephrine and methoxytyramine: importance of supine sampling under fasting conditions

Darr Roland , Peitzsch Mirko , Pamporaki Christina , Prejbisz Aleksander , Fassnacht Martin , Beuschlein Felix , Neumann Hartmut , Januszewicz Andrzej , Lenders Jacques , Eisenhofer Graeme

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...

ea0035oc2.4 | Adrenal clinical | ECE2014

Detection of pheochromocytoma by enzyme immunoassay measurements of plasma metanephrines requires appropriately established upper cut-offs of reference intervals

Weismann Dirk , Raida Anna , Deutschbein Timo , Prejbisz Aleksander , Januszewicz Andrzej , Willenberg Holger S. , Peitzsch Mirko , Darr Roland , Klemm Reiner , Manz Georg , Bidlingmaier Martin , Eisenhofer Graeme , Fassnacht Martin

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...

ea0093oc1 | Oral communication 1: Adrenal Diseases | EYES2023

Generation and characterization of CYP21A2-I173N MICE: A humanized mutant animal model for 21-hydroxylase deficiency

Thirumalasetty Shamini Ramkumar , Schubert Tina , Naumann Ronald , Reichardt Ilka , Rohm Marie-Luise , Landgraf Dana , Peitzsch Mirko , Sarov Mihail , Reisch Nicole , Huebner Angela , Koehler Katrin

Background: Congenital Adrenal Hyperplasia (CAH) is a group of inherited disorders affecting adrenal steroidogenesis. The main form, 21-hydroxylase deficiency (21-OHD), results from mutations in the CYP21A2 gene. Patients experience hormone deficiencies, and excessive androgens which lead to various symptoms such as hypoglycemia, salt wasting, virilization, and early puberty. Therapy demands high glucocorticoid doses, causing significant side-effects. While new treatm...

ea0090oc5.1 | Oral Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

CYP21A2-R484Q mice, a humanized mutant animal model for congenital adrenal hyperplasia

Ramkumar Thirumalasetty Shamini , Schubert Tina , Naumann Ronald , Reichardt Ilka , Rohm Marie Luise , Landgraf Dana , Gembardt Florian , Peitzsch Mirko , Hartmann Michaela F , Sarov Mihail , Wudy Stefan A , Reisch Nicole , Huebner Angela , Koehler Katrin

Congenital Adrenal hyperplasia (CAH) refers to a group of autosomal-recessive inherited disorders of impaired adrenal steroidogenesis. The most common form is 21-hydroxylase deficiency (21-OHD) caused by mutations in the CYP21A2 gene. Patients lack glucocorticoids and in some cases mineralocorticoids, and present with androgen excess causing hypoglycemia, live-threatening salt wasting, virilisation, and precocious puberty. Treatment includes the replacement of deficie...

ea0063p1034 | Interdisciplinary Endocrinology 2 | ECE2019

Harmonization status among ten European laboratories using liquid chromatography-tandem mass spectrometry (LC-MS/MS) for steroid measurements in serum: preliminary results from the HarmoSter consortium

Fanelli Flaminia , Mezzullo Marco , Temchenko Anastasia , Cantu Marco , Lindner Johanna M , Peitzsch Mirko , Hawley James M , Bruce Stephen , Zelzer Sieglinde , Herrmann Markus , Heijboer Annemieke C , Van den Ouweland Jody , Eisenhofer Graeme , Keevil Brian G , Rauh Manfred , Vogeser Michael , Pagotto Uberto

Background: LC-MS/MS is replacing immunoassays for serum steroid measurement in clinical labs worldwide. The intrinsic high specificity of LC-MS/MS is supposed to guarantee accurate quantitation, however, differences in pre-analytical and analytical procedures, and overall performance may influence the result. A few studies so far investigated the reproducibility among different LC-MS/MS assays for sex steroids. No data are available for adrenal steroids.<p class="abstext"...

ea0041gp9 | Adrenal | ECE2016

Is steroid profiling using LC-MS/MS useful in the diagnostic work-up of primary aldosteronism?

Williams Tracy A. , Lenders Jacques W.M. , Peitzsch Mirko , Dekkers Tanja , Dietz Anna S. , Rump Lars C. , Willenberg Holger S. , Treitl Marcus , Bidlingmaier Martin , Beuschlein Felix , Deinum Jaap , Eisenhofer Graeme , Reincke Martin

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...