Searchable abstracts of presentations at key conferences in endocrinology

ea0041gp165 | Pituitary - Clinical (1) | ECE2016

Remission, recurrence and control rates in patients with ACTH-dependent Cushing’s syndrome– a monocentric, retrospective analysis

Fazel Julia , Berr Christina , Beuschlein Felix , Schopohl Jochen , Bidlingmaier Martin , Reincke Martin

Introduction: Transsphenoidal surgery is the gold standard in Cushing’s disease and recurrence is a major risk. We wondered which impact remission and recurrence might have on control rates of hypercortisolism and conducted a systematic analysis of our cohort of patients with Cushing’s syndrome after undergoing surgical therapy.Methods: We analysed the course of the disease in 74 patients with ACTH-dependent Cushing’s syndrome (63 Cushing&...

ea0073aep45 | Adrenal and Cardiovascular Endocrinology | ECE2021

The role of E47 in patients with endogenous cortisol excess

Zhang Wei , Nowotny Hanna F. , Zopp Stephanie , Bidlingmaier Martin , Reincke Martin , Uhlenhaut Henriette , Reisch Nicole

ContextE47 is a transcription factor mostly known for its role in B and T cell lineage commitment. Recently E47 was identified as a modulator of glucocorticoid receptor target genes, its loss protecting mice from metabolic adverse effects of glucocorticoids. Patients with Cushing’s syndrome (CS) suffer from an endogenous glucocorticoid excess due to tumour formation associated with a variety of metabolic comorbidities seriously affecting patients&#1...

ea0044pl9 | Clinical Endocrinology Trust Visiting Professor Lecture | SFEBES2016

Genomics and Steroidobolomics in Cushing's syndrome: the perspective of a clinician scientist

Reincke Martin

Cushing's disease results from uncontrolled ACTH secretion by corticotroph adenomas of the pituitary, resulting in excess cortisol secretion. Numerous previous studies attempted to gain insight into the molecular mechanisms underlying the development of Cushing’s disease, but only few rare mutations have been reported. Recently, an exhaustive exome-wide screening has led us to identify somatic mutations in the ubiquitin-specific protease 8 (USP8) in 36% of adenomas...

ea0037s18.3 | New genetics of pituitary tumours (<emphasis role="italic">Endorsed by the European Journal of Endocrinology</emphasis>) | ECE2015

Genetics of Cushings Disease

Reincke Martin

Cushing’s disease is caused by corticotroph adenomas of the pituitary. To explore molecular mechanisms of endocrine autonomy, we recently performed exome sequencing of 10 corticotroph adenomas1 identifying somatic mutations in the USP8 deubiquitinase gene in 4 of 10 adenomas. The mutations clustered in the 14-3-3 protein binding motif enhancing proteolytic cleavage and catalytic activity of USP8. Cleaved USP8 led to increased EGF receptor deubiquitination impai...

ea0035mte5 | (1) | ECE2014

The Year in the Adrenals

Reincke Martin

In this session, the most recent publications related to the topic and published in 2013/2014 will be discussed and set into a clinical and problem-oriented context. In primary aldosteronism three Nature genetics papers have elucidated the genetic basis of aldosterone-producing adenomas. In addition, an important AVS expert consensus has been published (Hypertension 2014). Also, in 2014, a revised Endocrine Society Practice Guidline for primary aldosteronism is expected (JCEM...

ea0022oc4.1 | Adrenals | ECE2010

Subtype differentiation in primary hyperaldosteronism: evaluation of alternative algorithms avoiding a controversial gold standard

Lang Katharina , Hahner Stefanie , Vonend O , Rump L C , Quninkler M , Diederich Sven , Maier Katharina , Beuschlein Felix , Bidlingmaier Martin , Endres S , Engelke C , Kickuth Ralph , Fassnacht Martin , Reincke Martin , Allolio Bruno

Context: Primary aldosteronism (PHA) is the most common cause of secondary hypertension. Distinguishing unilateral (UAH) from bilateral (BAH) and other causes of PHA is one of the greatest challenges in the diagnostic process. Adrenal venous sampling (AVS) is widely considered to be the gold standard for subtype differentiation.Methods: Technical and diagnostic outcome of AVS was analysed retrospectively in 59 patients with PHA who underwent AVS at the U...

ea0056oc5.1 | Diving deep into adrenal cortex diseases | ECE2018

Is adrenal computed tomography accurate for the diagnosis of unilateral primary aldosteronism? A retrospective international cohort study

Williams Tracy Ann , Reincke Martin

Background: Unilateral primary aldosteronism is the most common surgically correctable form of endocrine hypertension, usually diagnosed by adrenal vein sampling (AVS) or computed tomography (CT). We compared the outcomes of patients diagnosed by CT and AVS and determined if CT can reliably diagnose unilateral primary aldosteronism in young patients with an evident phenotype.Methods: Patient data were obtained from 18 internationally distributed centres ...

ea0070aep97 | Adrenal and Cardiovascular Endocrinology | ECE2020

Clinical and histopathologic phenotype of a single-center patient cohort operated for unilateral primary aldosteronism

Meyer Lucie , Reincke Martin , Ann Williams Tracy

Objective: Clinical and histopathological assessment of a consecutive series of Munich patients operated between 2016 and 2018 for unilateral primary aldosteronism (PA).Background: Unilateral PA is the most common surgically curable form of hypertension mainly caused by an aldosterone-producing adenomas (APA). Somatic mutations in KCNJ5, CACNA1D, ATP1A1 or ATP2B3drive the aldosterone excess in the majority of APAs. Genetic variants in <...

ea0093p7 | Guided Poster Tour 1: Adrenal and Neuroendocrine tumors | EYES2023

Identification and characterization of biologically active small molecules against primary aldosteronism driver mutations

Mir-Bashiri Sanas , Reincke Martin , Williams Tracy

Primary aldosteronism (PA) is a form of endocrine hypertension characterized by autonomous aldosterone secretion. Aldosterone-producing adenomas (APAs) are a significant cause of unilateral PA, where aldosterone overproduction is driven by a somatic mutation in an ion pump or channel. Multiple studies have shown that mutations in the KCNJ5 gene are the most prevalent in PA patients suffering from the unilateral subtype, and unilateral laparoscopic total adrenalectomy ...

ea0041gp19 | Adrenal (1) | ECE2016

MUC-1: update on a newly established tumor model for adrenocortical carcinoma

Hantel Constanze , Shapiro Igor , Jung Sara , Reincke Martin , Beuschlein Felix

In an attempt, to overcome the lack of preclinical models for adrenocortical carcinoma (ACC), we recently aimed at the development of patient-individual tumor models for ACC. During these studies one xenograft (MUC-1), derived from a neck metastasis of an ACC, showed extraordinary engraftment properties and sustained tumor growth over several passages in the murine host. During ongoing studies we investigated and compared all currently available xenograft models for ACC (NCI-H...