Endocrine Abstracts

Composite pheochromocytomas (CP) are rare and constitute 3% of pheochromocytomas. So far, less than 100 cases were described in the literature. We present a case of 60 years old man. He was admitted to ER department due to severe bone pain around chest, ribs and vertebra. CT scan showed expansive, 100x87 mm, non-homogenic left adrenal gland tumour as well as metastatic bone lesions. The 24-hour urinary fractionated metanephrines were significantly elevated - 86195 ug/24h (norm...

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...

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...

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: ...

Introduction: Acromegaly is the most genetically determined pituitary disease.Objectives: We studied the prevalence of syndromic disease and germline mutations (AIP, MEN1, GNAS, PRKAR1A, CDKN1b) in a cohort of unselected, consecutive patients with acromegaly.Materials and methods: A total of 133 patients (79 females, 54 males, age range 16–75 years) with somatotroph pituitary neuroendocrine tumor who were studied at t...

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...

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...

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...

Osilodrostat as an inhibitor of adrenal 11B-hydroxylas, is an effective medication used in the management of endogenous hypercortisolism. There are limited data regarding usage of osilodrostat in ectopic Cushing Syndrome (CS). Surgery is usually the first line treatment in ectopic CS, however the source of ectopic hormonal production often remains undiscovered for a long period of time. Meanwhile dangerous state of severe hypercortisolism needs to be managed pharmacologically ...

Paragangliomas are rare neuroendocrine neoplasms that arise from chromaffin tissue commonly located in the adrenal medulla, pre-aortic and paravertebral sympathetic plexus or skull base. About 30% of paragangliomas have a genetic basis. They may be associated with autosomal dominant inheritance of variants in the gene encoding succinate dehydrogenase or may coexist in genetically determined endocrine syndromes. The study aim was to analyse clinical and molecular data of patien...