Searchable abstracts of presentations at key conferences in endocrinology
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European Congress of Endocrinology 2022

Milan, Italy
21 May 2022 - 24 May 2022

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The 24th European Congress of Endocrinology (ECE) and the Italian Society of Endocrinology look forward to welcoming you to Milan. ECE 2022 returns for a four day, six parallel session festival of endocrine science. You can join us In person in Milan, Italy OR Live @Home online!

Oral Communications

Young Investigator Awards

ea0081yi1 | Young Investigator Awards | ECE2022

Excessive bilateral adrenal hyperplasia associated with aldosterone synthase (CYP11B2) deficiency

Diamantopoulos Aristidis , Mourelatos Panagiotis , Sertedaki Amalia , Botoula Efthimia , Vassiliadi Dimitra , Tsagarakis Stylianos

Introduction: Congenital adrenal hyperplasia (CAH) encompasses a group of enzymatic defects in cortisol biosynthesis resulting in adrenal hyperplasia through chronic compensatory ACTH stimulation. Aldosterone synthase deficiency, however, is associated with normal cortisol secretion and there are no reports on whether it may be associated with adrenocortical hyperplasia.Case Presentation: A 37-year-old, Greek female was referred for further investigation...

ea0081yi2 | Young Investigator Awards | ECE2022

Single-nuclei transcriptome of adult human adrenal glands reveals novel insights into molecular mechanisms intrinsic to adrenocortical tumourigenesis and cortisol secretion

Altieri Barbara , Secener Ali Kerim , Sai Somesh , Fischer Cornelius , Sbiera Silviu , Arampatzi Panagiota , Vitcetz Sarah , Braeuning Caroline , Sauer Sascha , Fassnacht Martin , Ronchi Cristina

Background: Molecular mechanisms underlying the pathogenesis of adrenocortical adenomas (ACAs) and autonomous cortisol secretion remains frequently unexplained despite previous comprehensive genomics studies.Aim: To gain novel insights into molecular pathogenesis of adrenocortical tumours by investigating transcriptome profiles of ACAs at single-nuclei resolution (snRNA-Seq), using adult human normal adrenal glands (NAGs) as reference.<p class="abste...

ea0081yi3 | Young Investigator Awards | ECE2022

Generalization of TSH and FT4 reference intervals in pregnancy: an individual participant data meta-analysis

Osinga Joris , Derakhshan Arash , Consortium on thyroid and pregnancy working group on reference intervals , Peeters Robin , Korevaar Tim

Objective: Defining thyroid function test abnormalities in pregnancy is complicated by changes in maternal physiology. Ideally, reference intervals (RIs) should be population-based and pregnancy-specific. Large methodological differences between published reports limit the adoption of such RIs into clinical practice.Methods: The study was performed in the Consortium on Thyroid and Pregnancy. In line with current consensus and the 2017 American Thyroid As...

ea0081yi4 | Young Investigator Awards | ECE2022

The role of miR-335-5p in the differentiation of thyroid cancers with BRAF mutation

Pecce Valeria , Verrienti Antonella , Sponziello Marialuisa , Grani Giorgio , Bini Simone , Filetti Sebastiano , Durante Cosimo

The most frequent mutation in papillary thyroid carcinoma (PTC) is the p.V600E of the BRAF gene. This mutation leads to the aberrant activation of the RAS / BRAF / MEK / ERK pathway and consequently to the under-regulation of thyroid-specific genes, resulting in uncontrolled growth and de-differentiation of cancer cells. In this work, we analyzed the transcriptomics data produced by the TCGA project using a network approach. The analysis led to the identification of r...

ea0081yi5 | Young Investigator Awards | ECE2022

Pseudohypoparathyroidism: focus on neonatal features, preliminary data from a retrospective analysis of a large cohort of patients

Del Sindaco Giulia , Pagnano Angela , Berkenou Jugurtha , Rothenbuhler Anya , Arosio Maura , Linglart Agnes , Mantovani Giovanna

Since the first description of pseudohypoparathyroidism (PHP) a remarkable clinical variability was observed. In 2016 a new classification of this group of diseases have been published by the European Network on PHP and related disorders, proposing “inactivating PTH/PTHrP signaling disorder” (iPPSD) as a new term that encompasses all the clinical entities. PHP and related disorders vary in clinical presentation and disease severity, and clinical features usually deve...

ea0081yi6 | Young Investigator Awards | ECE2022

Integrated genomics reveals the molecular classification of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH), correlating with specific profiles of illegitimate receptors expression and identifies KDM1A as the genetic cause of food-dependent Cushing syndrome

Bouys Lucas , Violon Florian , Vaczlavik Anna , Gaetan Giannone , Jouinot Anne , Armignacco Roberta , Cavalcante Isadora Pontes , Berthon Annabel , Letouze Eric , Vaduva Patricia , Barat Maxime , Fideline Bonnet , Perlemoine Karine , Ribes Christopher , Sibony Mathilde , North Marie-Odile , Espiard Stephanie , Haissaguerre Magalie , TAUVERON Igor , Guignat Laurence , Groussin Lionel , Dousset Bertrand , Reincke Martin , Barisson Villares Fragoso Maria Candida , Stratakis Constantine A , Pasmant Eric , Libe Rossella , Assie Guillaume , Ragazzon Bruno , Bertherat Jerome

Introduction: In Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH), cortisol secretion may be consecutive to physiological stimuli, through the illegitimate expression of G-protein coupled receptors (GPCR) in adrenocortical cells. The most characterized is the overexpression of GIP receptor (GIPR) leading to food-dependent Cushing syndrome (FDCS) but it has not been associated with the consecutive inactivation of ARMC5 responsible for 25% of PBMAH. This work aimed to ...

ea0081yi7 | Young Investigator Awards | ECE2022

Radiotherapy for adults with pituitary adenoma or craniopharyngioma is associated with increased risk of second brain tumour : A multi-centre study of 3,613 patients with long-term imaging surveillance

Hamblin Ross , Vardon Ashley , Akpalu Josephine , Tampourlou Metaxia , Spiliotis Ioannis , Sbardella Emilia , Lynch Julie , Shankaran Vani , Mavilakandy Akash , Gagliardi Irene , Meade Sara , Hobbs Claire , Cameron Alison , Levy Miles J , Ayuk John , Grossman Ashley , Ambrosio Maria Rosaria , Zatelli Maria Chiara , Reddy Narendra , Bradley Karin , Murray Robert , Pal Aparna , Karavitaki Niki

Background: The risk of a second brain tumour following radiotherapy for pituitary adenoma or craniopharyngioma in adults is currently unclear. Studies are methodologically limited by small patient sample size, few case events, selection biases or the use of inappropriate controls.Objective: To ascertain whether radiotherapy delivered to adults with pituitary adenoma or craniopharyngioma is associated with an increased second brain tumour risk using appr...

ea0081yi8 | Young Investigator Awards | ECE2022

AKR1D1 knockdown identifies 7α-hydroxy-3-oxo-4-cholestenoic acid (7-HOCA) as a driver of metabolic dysfunction and hepatocellular cancer risk in patients with non-alcoholic fatty liver disease (NAFLD)

Nikolaou Nikolaos , Arvaniti Anastasia , Sanna Fabio , da Conceicao Ragazzon , Dempster Niall , Gathercole Laura , Tomlinson Jeremy

Non-alcoholic fatty liver disease (NAFLD) is a spectrum of disease ranging from simple intrahepatic lipid accumulation to fibrosis, cirrhosis, and hepatocellular carcinoma (HCC). 5β-reductase (AKR1D1) is a liver enzyme that catalyses a fundamental step in bile acid (BA) synthesis. Both BAs and BA intermediates are established as potent regulators of metabolic and proliferative phenotype. We have hypothesised that AKR1D1 plays a crucial role in NAFLD and HCC. Human liver b...

ea0081yi9 | Young Investigator Awards | ECE2022

Acute kidney injury: a strong risk factor for hypoglycaemia in hospitalized patients with type 2 Diabetes

Carreira Ana , Castro Pedro , Mira Filipe , Melo Miguel , Paiva Isabel , Ribeiro Pedro , Santos Lelita

Introduction: Acute Kidney Injury (AKI) is highly prevalent during hospitalization of patients with type 2 diabetes (T2D), and has been associated with increased risk of hypoglycaemia in Intensive Care Units. However, this association in non-critically ill patients is less clear and evidence on the impact of AKI’s severity and duration on hypoglycaemia is lacking.Objectives: To assess the impact of AKI and its severity and duration on the risk of hy...

ea0081yi10 | Young Investigator Awards | ECE2022

The developing rat thyroid gland transcriptome is sexually dimorphic and exhibit dynamic changes from fetal life to prepuberty

Ramhoj Louise , Rosenmai Anna , Lardenois Aurelie , Evrard Bertrand , Axelstad Marta , Chalmel Frederic , Svingen Terje

Lifelong thyroid health depends on establishment of thyroid gland structure and function during early life development. However, thyroid development can be disrupted and lead to early- or adult life thyroid disorders. Still, the molecular machinery underpinning thyroid gland development remains poorly understood, particularly after the onset of fetal thyroid function. Here we used bulk-RNA-barcoding and sequencing (BRB-seq) to map the thyroid gland transcriptome as it undergoe...

ea0081yi11 | Young Investigator Awards | ECE2022

Diagnosing pancreatic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1 in daily practice

Pieterman Carolina , Van Beek Dirk-Jan , Wessels Frank J , van de Ven Annenienke C , de Herder Wouter W , Dekkers Olaf M , Zandee Wouter T , Drent Madeline L , Bisschop Peter H , Havekes Bas , Borel Rinkes Inne HM , Vriens Menno R , Valk Gerlof D

Background: Pancreatic Neuroendocrine Tumors (PanNETs) are highly prevalent in Multiple Endocrine Neoplasia type 1 (MEN1) and one of the main causes of mortality. Conventional imaging is the mainstay of PanNET screening/surveillance in MEN1. This study aims to assess the diagnostic accuracy of conventional pancreatic imaging studies and to determine the added value of pancreatic fine needle aspirations (FNA) for the diagnosis of MEN1-related PanNETs.Meth...

ea0081yi12 | Young Investigator Awards | ECE2022

Role of the transcription factor HHEX in inner adrenal cortex homeostasis and response to progesterone signaling

Dumontet Typhanie , Basham Kaitlin , Lerario Antonio , Bothou Christina , Brixius Bjoern , Turcu Adina F , Beuschlein Felix , Hammer Gary D

The adrenal glands serve as central organs of the endocrine system by producing steroid hormone essential for organismal homeostasis. Mechanisms ensuring proper adrenal homeostasis and function are therefore crucial for maintaining human life. ACTH, released by the pituitary corticotrope, is required for the differentiation of the inner part of the adrenal cortex (the zona fasciculata) and the resultant stimulation of cortisol production. Perturbation of ACTH signaling can lea...