Searchable abstracts of presentations at key conferences in endocrinology

ea0081p639 | Endocrine-Related Cancer | ECE2022

Does the length of a polyalanine tract in the FOXE1 gene impact the course of familial non-medullary thyroid cancer?

Domagała Bartosz , Koziara Michał , Trofimiuk-Muldner Malgorzata , Skalniak Anna , Hubalewska-Dydejczyk Alicja

Familial non-medullary thyroid cancer (FNMTC) constitutes about 3–9% of all thyroid cancers. One of the genes believed to predispose to non-syndromic FNMTC is FOXE1. It contains a polyalanine tract (polyAla) with a variable number (11 – 22) of alanine residues. This length polymorphism could lead to changes in the FOXE1-encoded protein (FOXE1 transcription factor) structure and predispose to papillary thyroid cancer (PTC). The aim of the st...

ea0090p550 | Adrenal and Cardiovascular Endocrinology | ECE2023

Is there any link between non-classic adrenal hyperplasia (NCAH) and glucose metabolism?

Domagała Bartosz , Gamrat Aleksandra , Skalniak Anna , Przybylik-Mazurek Elwira , Trofimiuk-Muldner Malgorzata , Hubalewska-Dydejczyk Alicja

Introduction: There are data reporting an increased risk of cardiovascular and metabolic complications in patients with NCAH. This is frequently attributed to glucocorticoid (over)use. It seems that long-term exposure to increased androgens concentration may also itself lead to diminished insulin sensitivity and increased risk of prediabetes and diabetes.Aim: The aim of the study was to assess the link between NCAH diagnosis and glucose metabolism distur...

ea0070aep757 | Pituitary and Neuroendocrinology | ECE2020

AIP gene germline mutations in non-selected patients with sporadic pituitary macrodenomas

Trofimiuk-Muldner Malgorzata , Domagała Bartosz , Sokolowski Grzegorz , Skalniak Anna , Pach Dorota , Hubalewska-Dydejczyk Alicja

Up to 5% of all pituitary tumors are hereditary (e.g. due to menin or AIP genes mutations). AIP gene mutations are more common in subjects with acromegaly, less than 30 years old at the onset of disease, and with FIPA family history. The study was aimed at the assessment of the frequency and characteristics of AIP-mutation related tumors in non-selected patients with pituitary macroadenomas.Material and Methods: The study included subsequent 131 patients...

ea0070aep582 | Pituitary and Neuroendocrinology | ECE2020

An asynchronous double growth hormone secreting pituitary adenoma ofa different proliferative potential – a case report

Trofimiuk-Muldner Malgorzata , Domagała Bartosz , Kluczynski Lukasz , Sokolowski Grzegorz , Zielinski Grzegorz , Maksymowicz Maria , Pekul Monika , Hubalewska-Dydejczyk Alicja

Background: Double pituitary adenomas are a rare entity, which requires clinical attention and a careful follow-up.Case report: A 37-year-old man presented with left-sided painful gynecomastia. He denied typical symptoms of excessive growth hormone (GH) secretion and did not show any acromegalic features. Due to low testosterone and LH levels with mild hyperprolactinaemia, the patient was referred to pituitary MR, which revealed an 11 × 13 mm right-...

ea0073aep7 | Adrenal and Cardiovascular Endocrinology | ECE2021

Unnecessary cosyntropin stimulation tests for nonclassic congenital adrenal hyperplasia (NCAH) – shall the cut-off value of 17-hydroxyprogesterone be revised?

Bartosz Domagala , Trofimiuk-Muldner Malgorzata , Krawczyk Anna , Joanna Topór-Kolkowska , Skalniak Anna , Przybylik-Mazurek Elwira , Pach Dorota , Hubalewska-Dydejczyk Alicja

Cosyntropin stimulation test is the gold diagnostic standard used to test for NCAH. Genetic testing is not currently considered to be the primary diagnostic tool for NCAH. Still, it may be helpful in establishing a diagnosis if other results are unequivocal or for genetic counselling purposes. The study aimed at verifying the currently accepted threshold of 17-hydroxyprogesterone (17OHP) level (3 2.0 ng/ml) at which a cosyntropin stimulation test should be performed...