Searchable abstracts of presentations at key conferences in endocrinology

ea0037gp.29.03 | Endocrine tumours and neoplasia – Adrenal Tumour | ECE2015

Immunoexpressions of CYP11B2 and HSD3B2 in genetically characterised aldosterone producing adenomas

Gebhard Christian , Rhayem Yara , Dietz Anna , Riester Anna , Hantel Constanze , Schuster Marion , Strom Tim M , Gomez-Sanchez Celso , Reincke Martin , Beuschlein Felix

Primary aldosteronism caused by aldosterone-producing adenoma (APA) or bilateral adrenal hyperplasia is the most prevalent cause of secondary hypertension. Somatic mutations of KCNJ5, ATP1A1, CACNA1D and ATP2B3 have been shown to be involved in the formation of APA. We studied the immunoexpressions of CYP11B2 and HSD3B2, the rate-limiting enzyme for aldosterone production and the prevalent isoform of β-HSD found in APA respectively, and...

ea0038oc1.6 | Early Career Oral Communications | SFEBES2015

Urine steroid metabolomics as a diagnostic tool in primary aldosteronism

Lang Katharina , Beuschlein Felix , Biehl Michael , Dietz Anna , Riester Anna , Hughes Beverly A , O'Neil Donna M , Hahner Stefanie , Quinkler Marcus , Lenders Jacques W , Shackleton Cedric H L , Reincke Martin , Arlt Wiebke

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...

ea0081p272 | Adrenal and Cardiovascular Endocrinology | ECE2022

Characterization of molecular pathway alterations in Cushing’s Syndrome

Vetrivel Sharmilee , Zhang Ru , Khan Ali , Osswald Andrea , Reincke Martin , Sbieria Silviu , Riester Anna

Context: Transcriptomic based characterization of signaling pathways in the adrenals of different subtypes of Cushing’s syndrome.Patients: For preliminary NGS analyses, a total of 27 adrenal samples were used. The cohort consisted of the following patient groups: Cortisol producing adenoma (CPA, n=9), primary bilateral macronodular adrenal hyperplasia (PBMAH, n=10). The adjacent normal adrenal tissue from pheochromocytoma patients ...

ea0035p37 | Adrenal cortex | ECE2014

Cardiovascular outcome in patients with primary aldosteronism following adrenalectomy and mineralocorticoid antagonist treatment: prospective results of the Munich Conn Center

Riester Anna , Fischer Evelyn , Degenhart Christoph , Bidlingmaier Martin , Hallfeldt Klaus , Beuschlein Felix , Reincke Martin

The cardiovascular outcome of targeted treatment of primary aldosteronism (PA) has not been prospectively studied in large cohorts. Using the data of the prospective German Conn’s registry we evaluated the effect of adrenalectomy (ADX) vs mineralocorticoid-receptor-antagonists (MRA) treatment on blood pressure (BP), serum potassium, eGFR, pro-BNP, number and WHO DDD of antihypertensive drugs. Since 2008, 181 patients have been newly diagnosed with PA and underwent subtype...

ea0035p568 | Endocrine tumours and neoplasia | ECE2014

Expression of prolactin receptor in aldosterone-producing adrenal adenomas

Sustarsic Elahu , Riester Anna , Bielohuby Max , Beuschlein Felix , Reincke Martin , Bidlingmaier Martin

Scattered case reports have described patients who have been diagnosed with both primary hyperaldosteronism and prolactinoma. Prolactin receptor (PRLR) is known to be expressed in human adrenal cortex. Furthermore, PRLR mRNA and protein have both been detected in human adrenal tumors. It has also been shown that PRL treatment of adrenal cells is capable of stimulating aldosterone secretion. The contribution of PRL to the development of hyperaldosteronism is u...

ea0075a17 | Adrenal gland | EYES2021

Characterization of transcriptional and miRNA based dysregulations in Cushing’s syndrome

Vetrivel Sharmilee , Zhang Ru , Osswald Andrea , Engel Mareen , Beuschlein Felix , Chen Alon , Sbiera Silviu , Reincke Martin , Riester Anna

Introduction: Transcriptional regulation of gene expression by miRNAs is critical for the fine-tuning of adrenal stress response. However, its role in hypercortisolism has not been explored well. The study addresses this gap using adrenal samples of 3 patient groups from the German Cushing’s registry: Cortisol-Producing-Adenoma (CPA), Primary Bilateral Adrenal Hyperplasia (PBMAH) and controls (adrenal samples of patients with pheochromocytoma).Metho...

ea0081p20 | Adrenal and Cardiovascular Endocrinology | ECE2022

Characterization of adrenal miRNA-based dysregulations in Cushing’s Syndrome

Zhang Ru , Vetrivel Sharmilee , Watts Deepika , Osswald Andrea , Engel Mareen , Beuschlein Felix , Chen Alon , Sbiera Silviu , Wielockx Ben , Reincke Martin , Riester Anna

Introduction: Transcriptional regulation of gene expression by miRNAs is critical for the fine-tuning of stress response. However, its role in hypercortisolism has not been explored well. After exploring circulating miRNAs in Cushing’ Syndrome (CS) as biomarkers our aim was to investigate their origin and their role in adrenal tissue.Methods: Next generation sequencing (NGS) based miRNA profiling was performed in adrenal samples from patients of Ger...

ea0075a22 | Adrenal gland | EYES2021

Steroid profiling using liquid chromatography mass spectrometry during adrenal vein sampling in patients with primary bilateral massive adrenal hyperplasia

Zhang Ru , Rubinstein German , Vetrivel Sharmilee , Vogel Frederick , Kroiss Matthias , Deniz Sinan , Osswald Andrea , Knosel Thomas , Kunz Sonja , Bidlingmaier Martin , Sbiera Silviu , Reincke Martin , Riester Anna

Background: Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a rare cause of ACTH-independent Cushing’s syndrome. The clinical application of adrenal venous sampling (AVS) in diagnostic work-up for PBMAH is still controversially discussed. AVS might be useful in evaluating the predominant side and guiding the decision for unilateral adrenalectomy in PBMAH.Objectives: Our aim was to evaluate whether certain metabolites in AVS samp...

ea0041gp10 | Adrenal | ECE2016

PRKACA somatic mutations are rare in aldosterone-producing adenomas.

Rhayem Yara , Perez-Rivas Luis Gustavo , Dietz Anna , Bathon Kerstin , Gebhard Christian , Riester Anna , Mauracher Brigitte , Gomez-Sanchez Celso , Schwarzmayr Thomas , Calebiro Davide , Strom Tim M. , Reincke Martin , Beuschlein Felix

Aldosterone-producing adenomas (APAs) are the most frequent cause of primary aldosteronism (PA). Somatic mutations of KCNJ5, ATP1A1, CACNA1D and ATP2B3 are involved in APAs formation while CTNNB1 and GNAS somatic mutations have been described in both APAs and in cortisol-producing adenomas (CPAs). In contrast, mutations of PRKACA coding for the catalytic subunit of protein kinase A have been yet only identified in ...

ea0070aep565 | Pituitary and Neuroendocrinology | ECE2020

Hypercortisolism-related molecular signature: Results from whole blood methylome analysis

Armignacco Roberta , Septier Amandine , Jouinot Anne , Neou Mario , Gaspar Cassandra , Perlemoine Karine , Bouys Lucas , Braun Leah , Riester Anna , Zennaro Maria-Christina , Reincke Martin , Bertherat Jérôme , Beuschlein Felix , Assié Guillaume

The effective treatment and optimal prognosis of hypercortisolism (Cushing’s syndrome – CS) depend on accurate and early diagnosis. However, hormonal assays can be complex, requiring multiple tests, and not predictive for any related complications, neither for their duration and severity. Identifying novel, specific and easily measurable biomarkers may improve CS diagnosis as well as the evaluation of complications. Since stress-associated epigenetic markers can be...