Searchable abstracts of presentations at key conferences in endocrinology

ea0081p120 | Endocrine-Related Cancer | ECE2022

Novel panels of tissue microRNAs to diagnose adrenocortical malignancy based on artificial intelligence tools

Turai Peter , Herold Zoltan , Nyiro Gabor , Borka Katalin , Micsik Tamas , Toke Judit , Szucs Nikolette , Toth Miklos , Patocs Attila , Igaz Peter

Adrenocortical tumors are common, occuring in 5-7% of the population. Adrenocortical carcinoma (ACC) is rare (0.7-2/million/year) and it has a poor prognosis with a five-year survival of less than 30% in advanced stages. The histological differentiation of benign and malignant adrenocortical tumors is challenging.Objectives: To explore the diagnostic utility of multiple microRNAs in various combinations as markers of adrenocortical malignancy by using ar...

ea0022p32 | Adrenal | ECE2010

Utility of midnight salivary cortisol measurement in the diagnosis of overt and subclinical Cushing's syndrome

Sereg Marta , Toke Judit , Patocs Attila , Igaz Peter , Szucs Nikolett , Varga Ibolya , Szappanos Agnes , Glaz Edit , Racz Karoly , Toth Miklos

Background: Midnight salivary cortisol (SalC2400) measurement has been recently suggested as one of the first-line screening tests for hypercortisolism.Aims: In our present study, we evaluated the clinical utility of the salivary cortisol (SalC) measurement in the diagnosis of both overt and subclinical Cushing’s syndrome.Patients and methods: Patients with overt Cushing’s syndrome (n=23, group A) and those with su...

ea0016p676 | Steroid receptors | ECE2008

Glucocorticoid receptor gene polymorphisms in patients with Cushing's disease and adrenal Cushing's syndrome

Szappanos Agnes , Patocs Attila , Toke Judit , Sereg Marta , Futo Laszlo , Kende Zoltan , Varga Ibolya , Glaz Edit , Racz Karoly , Toth Miklos

Introduction: The hypothalamic–pituitary–adrenal axis setpoint and the glucocorticoid sensitivity in various tissues are at least partly genetically determined. The glucocorticoid receptor (GR) gene polymorphisms may have an impact on the development and/or the variability of clinical manifestations of endogenous hypercortisolism, however their role has not been investigated in patients with endogenous hypercortisolism.Methods: We investigated ...

ea0014p282 | (1) | ECE2007

Correlation of BclI, N363S and the ER22/23EK polymorphisms of the glucocorticoid receptor gene and bone mineral density in patients with endogenous and exogenous hypercortisolism

Szappanos Ágnes , Toke Judit , Boyle Belema , Majnik Judit , Varga Ibolya , Gláz Edit , Tóth Miklós , Rácz Károly

Objective: Genetic variation in the glucocorticoid receptor (GR) gene may be related to the clinical heterogenety and severity of the Cushing’s syndrome. BclI, N363S and ER22/23EK polymorphisms are the three most investigated polymorphisms within the GR gene, however, the importance and magnitude of their effect in hypercortisolemic states are unclear. The BclI and the N363S variants are associated with increased, while the ER22/23EK variant is associated with reduced glu...

ea0014p484 | (1) | ECE2007

Severe hyperandrogenism during the entire course of pregnancy does not cause virilization of a female infant born

Bertalan Rita , Halász Zita , Csabay László , Rigó János , Németh Sándor , Blázovics Anna , Toke Judit , Boyle Belema , Rácz Károly

Objevtives: Maternal hyperandrogenism occurs rarely during pregnancy as the consequense of maternal ovarian or adrenal disorders, or placental aromatase deficiency.Case: A 33-year-old pregnant women was referred because of high serum testosterone (240 ng/dl; normal, 20–60 ng/dl) measured at the 7th week of pregnancy. At presentation she had symptoms of moderate hyperandrogenism, which slightly increased until delivery. Abdominal and pelvic ultrasoun...

ea0014p497 | (1) | ECE2007

Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene

Toke Judit , Czirják Gábor , Patócs Attila , Enyedi Balázs , Gergics Péter , Csákváry Violetta , Enyedi Péter , Tóth Miklós

Objectives: Neonatal severe hyperparathyroidism (NSHPT) is induced by inactivating mutations of human calcium-sensing receptor (CaSR). We report the case of a now 11 year-old boy with NSHPT. We characterize a novel inactivating mutation with the results of some functional analyses.Case: In the neonatal age the patient presented the clinical syndrome of NSHPT. At the age of 6 years, persisting hypercalcemia without clinical symptoms was documented, and th...

ea0035oc5.1 | Adrenal & Thyroid | ECE2014

Diagnostic and therapeutic outcome in ERCUSYN: Preliminary report in over 1000 patients

Valassi Elena , Santos Alicia , Brue Thierry , Netea-Maier Romana T. , Feelders Richard A. , Yaneva Maria , Tsagarakis Stylianos , Pfeifer Marija , Chanson Philippe , Chabre Olivier , Zopf Kathrin , Toke Judit , Wass John AH , Droste Michael , Maiter Dominique , Dusek Tina , Komerdus Irina , Franz Holger , Lamberts Steven W.J. , Strasburger Christian J.

The European Registry on Cushing’s Syndrome (ERCUSYN) is designed to collect prospective and follow-up data on patients with Cushing’s syndrome (CS) and currently (Sep 2013) includes 1006 patients (804 F, 202 M; mean age (+S.D.) 44.7±13.3 years) from 57 centers in 28 countries.Six hundred and sixty one (66%) had pituitary-dependent CS (PIT-CS), 242 (24%) adrenal-dependent CS (ADR-CS), and 103 (10%) CS from other etiologies, ...

ea0014p422 | (1) | ECE2007

Changes of serum bone marker concentrations after effective therapy of patients with Cushing’s syndrome

Tóth Miklós , Toke Judit , Lippai Dóra , Sereg Márta , Szappanos Ágnes , Füto László , Varga Ibolya , Szücs Nikolette , Kiss Róbert , Gláz Edit , Rácz Károly

Introduction: The most important feature of bone metabolism in patients with Cushing’s syndrome is the uncoupling of osteoblast and osteoclast activity resulting in suppressed bone formation.Objective: The aim of the present study was to investigate the altered bone turnover in patients with various forms of Cushing’s syndrome in the active phase of the disease as well as after successful normalization of cortisol overproduction.<p class="a...

ea0014p585 | (1) | ECE2007

Genetic analysis of PROP1 gene in patients with childhood-onset combined pituitary hormone deficiency (CPHD)

Halász Zita , Toke Judit , Patócs Attila , Bertalan Rita , Tömböl Zsófia , Sallai Ágnes , Hosszú Éva , Muzsnai Ágota , Kovács László , Sólyom János , Fekete György , Rácz Károly

Introduction: Combined pituitary hormone deficiency (CPHD) may be associated with mutations of genes coding for pituitary transcription factors, of which the PROP1 and Pit1, gene mutations have been most extensively studied. However, there are controversial data about the prevalence of these gene mutations in non-acquired childhood-onset CPHD patients.Objectives: To examine the prevalence and spectrum of PROP1 and Pit1 gene mutations in CPHD patients a m...