Searchable abstracts of presentations at key conferences in endocrinology

ea0073pep9.2 | Presented ePosters 9: Endocrine-Related Cancer | ECE2021

Possible role of common RET polymorphisms in pheochromocytoma

Skalniak Anna , Rzepka Ewelina , Przybylik-Mazurek Elwira , Hubalewska-Dydejczyk Alicja

BackgroundIn about 2/3 of pheochromocytoma patients, no pathogenic germline variant can be identified that might be responsible for the onset of the disease. However, in many patients, we observe the repeated appearance of one or more common polymorphisms in the gene RET. Each of them has been shown to be of no significance for pheochromocytoma and multiple endocrine neoplasm type 2 development, when analysed individually. We decided to test whe...

ea0081p595 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

Somatostatin analogue treatment for hyperinsulinemic hypoglycemia with glucokinase activating mutation (GCK), c.295T>C (p.Trp99Arg)

Boguslawska Anna , Rzepka Ewelina , Kluczyński Lukasz , Hubalewska-Dydejczyk Alicja , Gilis-Januszewska Aleksandra

Somatostatin analogues (SSA) are used to treat different forms of hyperinsulinemic hypoglycemia (HH) in children and adults and therapeutic effect is achieved by suppressing insulin secretion from pancreatic β-cells by complex mechanisms. These treatments might be associated with several side effects, can even cause the worsening of severity of hypoglycemia. This is a report of the treatment of HH with SSA in patient with Activating Mutation (GCK), c.295T>C (p.Trp99Ar...

ea0041ep96 | Adrenal medulla | ECE2016

Usefulness of assessment of urinal metoxycatecholamines secretion in everyday clinical practice – pheochromocytoma as diagnostic challenge

Przybylik-Mazurek Elwira , Rzepka Ewelina , Buziak-Bereza Monika , Hubalewska-Dydejczyk Alicja

Introduction: Adrenal incidentaloma is an adrenal mass found on imaging studies done for other reason than suspected adrenal disease. The majority of them are non-functioning adenomas, however pheochromocytomas could be also observed. Currently, in diagnosis of incidentalomas, the assessment of hormones of adrenal cortex and medulla is performed. The aim of the study was to assess the incidence of pheochromocytoma in patients with incidentaloma.Methods: ...

ea0081p690 | Pituitary and Neuroendocrinology | ECE2022

Clinical characteristics at diagnosis and diagnostic delay among newly-diagnosed patients with acromegaly- single-center, pilot study

Godlewska Magdalena , Bogusławska Anna , Kluczyński Łukasz , Rzepka Ewelina , Hubalewska-Dydejczyk Alicja , Gilis-Januszewska Aleksandra

Introduction: Diagnostic delay remains significant among the patients with acromegaly, even though the disease awareness has improved over the years.Aim: The aim was to investigate the diagnostic delay and symptoms present at diagnosis of acromegaly among the newly-diagnosed patients.Material and methods: 72 consecutive patients diagnosed with acromegaly between 01.2014 and 12.2021 were evaluated. Division into groups based on: gen...

ea0081p693 | Pituitary and Neuroendocrinology | ECE2022

Multimodal treatment including temozolomide (TMZ) and pasireotide for aggressive, giant silent corticotroph PiTNET in a young patient

Bogusławska Anna , Kluczyński Łukasz , Godlewska Magdalena , Rzepka Ewelina , Hubalewska-Dydejczyk Alicja , Gilis-Januszewska Aleksandra

Silent corticotroph pituitary neuroendocrine tumours (PiTNETs) are a subtype of nonfunctioning PiTNETs, that present positive immunostaining for adrenocorticotropin (ACTH) and/or show the expression of the transcription factor T-PIT without clinical signs of hypercortisolemia. They constitute 20% of all corticotroph PitNETs and manifest in most cases as macroadenoma with suprasellar extension and a higher tendency to apoplexy. We present a 33-year-old male with aggressive cour...

ea0081ep701 | Pituitary and Neuroendocrinology | ECE2022

Age at the diagnosis or age at the onset of symptoms- which should be taken into consideration in patients with early-onset acromegaly- pilot study

Godlewska Magdalena , Bogusławska Anna , Kluczyński Łukasz , Rzepka Ewelina , Hubalewska-Dydejczyk Alicja , Gilis-Januszewska Aleksandra

Introduction: The group of young adults with acromegaly, despite initial reports about their aggressive course of disease, has not been thoroughly characterized. Aim: Our aim was to investigate the differences between the patients with early-onset acromegaly and with onset in older age. Material and methods: Consecutive patients diagnosed with acromegaly between 01.2014 and 12.2021 were included in this retrospective study, approve...

ea0041ep280 | Clinical case reports - Pituitary/Adrenal | ECE2016

Pheochromocytoma – the rare reason of Cushing’s syndrome due to ectopic corticotropin secretion

Przybylik-Mazurek Elwira , Rzepka Ewelina , Kurzynska Anna , Hubalewska-Dydejczyk Alicja , Sowa-Staszczak Anna , Budzynski Andrzej , Bialas Magdalena , Chrzan Robert

Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) constitutes approximately 10% of Cushing’s syndrome (CS). In this group only in about 5% cases pheochromocytoma is the source of ACTH.We present two patients with EAS by pheochromocytoma.1. A 70 year-old woman with 3-months history of malaise, weakness, abdominal pain, loss of weight and appetite, hypertension and diabetes mellitus. One month ea...

ea0081p409 | Pituitary and Neuroendocrinology | ECE2022

Differences of clinical characteristics and treatment of sporadic and MEN-1 related insulinomas

Opalinska Marta , Gilis-Januszewska Aleksandra , Morawiec-Sławek Karolina , Rzepka Ewelina , Bogusławska Anna , Sowa Staszczak Anna , Hubalewska-Dydejczyk Alicja

Background: Although in most cases insulinomas are small and benign tumors, in about 4% they are malignant, mainly in course of inherited syndromes like MEN1, tubular sclerosis or neurofibromatosis type 1. While in case of benign tumors surgery is usually curative, the metastatic form brings difficulties in managing due to dissemination and the risk of recurring, life-threating, severe hypoglycemias. To elucidate the clinical differences between sporadic and MEN-1 linked insul...

ea0081p677 | Pituitary and Neuroendocrinology | ECE2022

Adrenal haemorrhage in a pheochromocytoma - a rare, life-threatening and challenging complication

Rzepka Ewelina , Kokoszka Joanna , Grochowska Anna , Ulatowska-Białas Magdalena , Lech Martyna , Opalińska Marta , Godlewska Magdalena , Przybylik-Mazurek Elwira , Gilis-Januszewska Aleksandra , Hubalewska-Dydejczyk Alicja

Adrenal haemorrhage is a rare, usually life-threating complication, most commonly connected with primary or metastatic adrenal tumour. Among them pheochromocytoma is the most common cause of spontaneous adrenal bleeding and accounts for nearly 50% of cases. We performed a database search for pheochromocytoma patients, diagnosed and treated in Endocrinology Department, University Hospital in Cracow from 2005 to 2021. 206 patients with pheochromocytoma were identified. Subsequen...

ea0081p676 | Pituitary and Neuroendocrinology | ECE2022

Pheochromocytoma/paraganglioma metastatic potential prediction

Rzepka Ewelina , Kurzyńska Anna , Grochowska Anna , Ulatowska-Białas Magdalena , Skalniak Anna , Lech Martyna , Opalinska Marta , Bogusławska Anna , Przybylik-Mazurek Elwira , Sowa-Staszczak Anna , Gilis-Januszewska Aleksandra , Hubalewska-Dydejczyk Alicja

Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours, which derive from the chromaffin cells of the adrenal medulla or extra-adrenal sympathetic and parasympathetic ganglia. About 15-20% of those neoplasms could present malignant course. Prediction of PPGL metastatic potential still remains a great clinical challenge, since the sensitivity and specificity of proposed prediction systems are not satisfactory. We performed a retrospective database search for ...