Searchable abstracts of presentations at key conferences in endocrinology

ea0032s19.1 | Recent advances in the molecular study of endocrine tumours: microRNAs and more | ECE2013

TGF-β signaling and the microRNA machinery

Patocs Attila

The activin/transforming growth factor-β (TGF-β) is a family of evolutionary conserved polypeptides. Their role has been implicated in the regulation of embryonic development, reproduction and tumor formation.Related to tumorigenesis TGF-β signaling inhibits cell proliferation at multiple levels by i) inducing the expression of tumor suppressors p15Ink4b and p21Waf1, ii) repressing oncogenic factors such as c-MYC and ...

ea0063p448 | Adrenal and Neuroendocrine Tumours 2 | ECE2019

GEP-NET tumors as the first geno-phenotypic association in MEN1 syndrome – the possibilities for a European MEN1 network

Kovesdi Annamaria , Grolmusz Vince Konrel , Patocs Attila

Objective: Phenotypic variability and lack of genotype-phenotype correlations still represent a major challenge in the surveillance of patients carrying germline MEN1 (Multiple Endocrine Neoplasia type 1) mutations. MEN1 associated gastroenteropancreatic neuroendocrine tumors (GEP-NETs) are highly penetrant and show an indolent course. However, they are still the leading cause of death in MEN1 syndrome. Some single-center and national studies reported higher prevalence of GEP-...

ea0041ep1109 | Thyroid cancer | ECE2016

Screening and follow up of an extended Hungarian family with familial medullary thyroid cancer

Valkusz Zsuzsanna , Sepp Krisztian , Gardi Janos , Patocs Attila

Medullary thyroid carcinoma (MTC) originates from the parafollicular or C cells of the thyroid gland and represents approximately 10% of all thyroid malignancies. The operational classification of FMTC is four or more family members with MTC without objective evidence of pheochromocytoma (PC) and parathyroid hyperplasia. In multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid cancer (FMTC), the majority of germline mutations are restricted to specific p...

ea0037ep162 | Reproduction, endocrine disruptors and signalling | ECE2015

Modulation of the circadian clock by glucocorticoid receptor in H295R cell line

Nagy Zsolt , Butz Henriett , Liko Istvan , Racz Karoly , Patocs Attila

Background: Peripheral clocks are set by different nervous, hormonal and metabolic stimuli and regulate the circadian expression of several genes. It has been demonstrated that circadian oscillation of gene expression can be detected in various cell lines in vitro.Aim: To explore whether a peripheral clock could be induced in human adrenocortical cell line H295R and what are the effects of glucocorticoids on this clock system.<p class="abste...

ea0070aep4 | Adrenal and Cardiovascular Endocrinology | ECE2020

Copy number determination of steroid 21-hydroxylase gene for the genetic testing of congenital adrenal hyperplasia using real-time quantitative PCR

Doleschall Marton , Darvasi Otto , Igaz Peter , Patocs Attila

Congenital adrenal hyperplasia (CAH) is usually caused by the mutations of steroid 21-hydroxylase gene (CYP21A2). CYP21A2 resides in RCCX copy number variation (CNV), and the genomic structure of RCCX CNV creates difficulties in the genetic testing of CAH. An RCCX CNV allele on one chromosome can carry CYP21A2 in various numbers. Homozygous deletion of complete CYP21A2 results in most severe form of CAH, whereas an additional and intact ...

ea0032p250 | Clinical case reports – Pituitary/Adrenal | ECE2013

Newly discovered adrenal tumor and pituitary microadenoma in a patient known with classical congenital adrenal hyperplasia

Kun Imre Zoltan , Szanto Zsuzsanna , Albert Karola , Patocs Attila

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, most commonly caused by CYP21A2 mutations, and characterized by disturbed cortisol and androgen synthesis. Clinical manifestations of classical 21-hydroxylase deficiency are virilisation and salt-waisting syndrome in both sexes. Adrenal tumors may appear in untreated CAH patients, but very rarely following adequate long-term therapy.Case report: The 17-years-old male p...

ea0090p663 | Endocrine-related Cancer | ECE2023

High diagnostic yield of multigene panel testing in patients with endocrine tumors

Butz Henriett , Nagy Petra , Papp Janos , Bozsik Aniko , Grolmusz Vince , Pocza Timea , Patocs Attila

Hereditary genetic variants are common among patients with endocrine tumours. Some specific clinical conditions are informative for certain monogenic syndromes (i.e., Carney complex, MEN1, MEN2, von Hippel Lindau syndrome) but manifestations characteristic for these syndromes occur more commonly as apparently sporadic. Other tumours, i.e., pheochromocytoma/paragangliomas (PPGL) are linked to multiple genes, hence a multigene approach in molecular genetic testing strategy is re...

ea0063p18 | Adrenal and Neuroendocrine Tumours 1 | ECE2019

Evaluating the applicability of urinary miR-483-5p as a non-invasive marker in adrenocortical cancer patients

Decmann Abel , Bancos Irina , Thomas Melinda A , Turai Peter , Perge Pal , Toth Miklos , Patocs Attila , Igaz Peter

Introduction: Minimally invasive blood-borne circulating microRNAs might be used for the preoperative differentiation of adrenocortical carcinoma (ACC) and adrenocortical adenoma (ACA). Circulating hsa-miR-483-5p is so far the best microRNA biomarker of ACC. To the best of our knowledge, there have been no studies concerning the potential applicability of urinary has-miR-483-5p as a non-invasive biomarker of ACC and its correlation with plasma hsa-miR-483...

ea0063p711 | Pituitary and Neuroendocrinology 2 | ECE2019

Whole genome demethylation status of somatic DNA extracted from different pituitary adenoma types

Szabo Borbala , Nemeth Kinga , Meszaros Katalin , Szucs Nikolett , Czirjak Sandor , Reiniger Lilla , Patocs Attila , Butz Henriett

Background: Although the role of hypermethylation of certain tumor suppressor genes are known in pituitary adenomas little information is available regarding whole methylation-demethylation status and especially regarding its correlation with clinical parameters. High-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) is an easy and accurate method to detect the level of methylcytosine (5 mC) and the demethylation intermedier hydroxymethylcytosine (5 hmC) ...

ea0037oc9.1 | Adrenal 2 | ECE2015

Effects of dexamethasone and adrenocorticotropin on circulating microRNA expression in humans

Igaz Ivan , Nyiro Gabor , Nagy Zoltan , Perge Pal , Toth Miklos , Racz Karoly , Igaz Peter , Patocs Attila

Objective: MicroRNAs are short non-protein coding RNA molecules involved in the regulation of numerous homeostatic processes via modulating gene expression. There are some data that the expression of microRNA might be modulated by hormones, but the interaction of hormones and circulating microRNAs of adrenocortical origin is mostly unknown.Methods: The expression of six selected circulating microRNAs (hsa-miR-27a, hsa-miR-125b-2, hsa-miR-200b, hsa-miR-21...