Endocrine Abstracts

Background: The genetic predisposition of Graves’ disease (GD) was proved by the identification of genes with substantial, non-interactive effects on the disease process. It is known, however, that genetic interactions significantly increase the likelihood of immune-tolerance-related complex diseases like allergic asthma and rheumatoid arthritis. In the present study we analyzed the effects of interactions of multiple loci on the genetic predisposition to GD patients....

Introduction: Mitotane-o’p-DDD belongs to insecticides (DDT pesticide contamination), it is the only drug registered by the FDA in treatment in adrenocortical carcinoma (ACC). Treatment effect is controled by mitotane concentration in the blood.Aim: The aim of the study is to evaluate the effectiveness of mitotane treatment in patients with adrenocortical cancer.Material and methods: We retrospectively reviewed data on ACC pat...

Background: Parathyroid carcinoma (PC) is a rare endocrine malignancy affecting 0.5–5% of all patients with primary hyperparathyroidism. Due to the rarity of PC there is still lack of prognostic implications of the disease and clear consensus regarding management. Our purpose was to evaluate prognostic factors and treatment outcomes of patients treated at the Department of Nuclear Medicine and Endocrine Oncology.Methods: The target group covered 44 ...

Proto-oncogene RET encodes a receptor tyrosine kinase. Germline point mutations of RET result in development of multiple endocrine neoplasia, type 2 (MEN 2). MEN 2 phenotype is correlated with intragene localization of germline mutation. The disease has three main subtypes, MEN 2A, MEN 2B and FMTC. Each of subtypes is associated with high risk of medullary thyroid cancer, MEN 2A and MEN 2B with 50% risk of pheochromocytoma, MEN 2A with 15–30% risk of primary hyperparathyr...

Background: Although neuroendocrine tumours (NET) constitute a very heterogeneous group, most of them express somatostatin receptors that enable treatment with somatostatin analogues(SA), which proved to be effective both as bio- or radiopeptide therapy. However, little is now about combining this two treatment modalities.The aim of our prospective study was to evaluate results of radiolabeled somatostatin analogues (PRRT) with or without long lasting ‘cold’ SA as co...

Background: Graves’ disease (GD) is a complex disease in which genetic predisposition is modified by environmental factors. The pathogenesis of GD and Graves’ orbitopathy (GO) might have a different genetic background – in some patients GO is observed before or late after diagnosis of GD hyperthyroidism. The aim of the study was to assess genetic predisposition to GD and GO in young patients (age of diagnosis ≤30 years of age), in which the time of environ...

Introduction: Primary adrenocortical carcinoma (ACC) is a highly malignant but rare neoplasm. It can occur as a hormonally active or an inactive tumor. It is considered that about three-fourths of ACC cases are hormonally active, although they do not always give clinical symptoms. Mitotane (Lysodren) is registered by the FDA for the therapy of ACC, either for monotherapy or as a combined chemotherapy.Case report: A 34-year-old woman, with a histopatholog...

Refractory or severe hypercalcemia is important clinical problem as it can lead to serious complications such as arrhythmias, acute or chronic pancreatitis, gastric ulcer, water and electrolyte balance disturbances, osteoporosis, psychoses and even to hypercalcemic crisis. Most often it is diagnosed in parathyroid cancer (PC). It is also observed in benign primary hyperparathyroidism (HPTH) in case of difficulties with adenoma’s localization. Routinely treatment includes ...

Introduction: Pathogenesis of pituitary adenomas is largely unknown thus, identification of genes specific for various types of pituitary tumors should enable better understanding of their biology.The aim of our study was to analyze differences in gene expression between functional (FA) and non-functional (NFA) pituitary adenomas. For this goal, we considered folate receptor (FOLR1) shown by previous study (Evans et al. 2003) to be overexpr...

BackgroundSilent somatotroph pituitary tumours are very rare, representing only 2-4% of all pituitary tumours in surgical series. Little is known about the course of the disease and efficacy of possible treatment modalities.Presentation of the caseA male, born in 1990, was first admitted to the hospital at the age of 15, due to sudden ptosis of the right eye and headaches, present for 1 year before the diagno...