Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a monogenic, dominantly inherited disorder caused by mutations in the MEN1 gene. Unfortunately, the outcome and the patients’ prognosis are unpredictable even among members of one family. It seems clear that other factors influence the individual outcome of the disease. However, it is still unclear what kind of factors (genetic or environmental) would be responsible for the observed differences.<p c...

Vitamin D deficiency has been recognized as a common public health issue in many countries, however its prevalence and impact on calcium metabolism parameters has not been extensively studied in Poland yet.The aim of the study was to assess the vitamin D status in sample of Polish urban population.Material and methods: Study included 273 healthy volunteers (76 males, 197 females, median age 58 years) living in city Krakow in south-...

Introduction: The mutation of SDHB gene is associated with familial pheochromocytoma-paraganglioma syndrome (PPS). SDHB gene is located in locus 1p23–25 and encodes a subunit B of succinate dehydrogenase, which plays a key role in the respiratory chain and Krebs cycle.Pheochromocytoma in PPS usually produces norepinephrin. Even long term remission do not exclude relapse of the disease.We present a case of bilateral adrenal phe...

Introduction: Mechanisms by which visceral obesity and insulin resistance (IR) contribute to atherogenesis are complex and not entirely known. One of the atherogenic factors involved in foam cells formation is scavenger receptor CD36 expressed on monocytes, endothelial cells, adipocytes and platelets, participating in oxidized LDLs absorption and foam cells formation – processes that initiate atheroslerosis. Many factors can influence the expression of receptor CD36.<...

Type 1 deiodinase (D1) catalyses deiodination of tyroxine (T4), which leads either to synthesis of triiodothyronine or reverse triiodothyronine (rT3). T3 can influence the process of neoplasia through its receptors which act as transcription factors and regulate the expression of many tumor suppressor genes and oncogenes. The aim of the study was to analyze the changes in expression of alternatively spliced variants of D1 mRNA in clear cell Renal Cell Carcinoma (ccRCC), which ...

Incidentalomas of adrenal glands are found in approximately 0.4–4.4% of abdominal CT-scan examinations and some of them can be caused by congenital adrenal hyperplasia (CAH). Bilateral masses can be detected in 10–15% of cases. CAH is one of the most common autosomal recessively inherited disorders. Non-classical form of congenital adrenal hyperplasia (NCCAH), is the milder form of the 21-hydroxylase deficiency, with the estimated incidence of 1:1000 worldwide.<p...

Adrenocortical carcinoma (ACC) is a rare neoplasm with poor prognosis. Patients can present signs of hormone excess: virilisation, Cusging’s syndrome or only enlarged abdominal mass. Incidentally ACC can be also detected in the ultrasonography. Some of ‘non-hypersecretory’ ACCs can produce non-bioactive hormones steroid precursors or not very big amount of them and sometimes patients present subclinical Cushing’s symptoms. Surgery and adjuvant radiotherapy ...

Identified genetic players for most common diseases are not sufficient to explain their heritability. This situation is known as the missing heritability problem. One among the possible explanations is the impact of rare variants. We present our own results of rare variants in the gene SLC26A4 in Hashimoto’s thyroiditis (HT), which were not found in controls, and therefore confirm the possibility of their impact on this disease. We genotyped 147 Hashimoto’s ...

Objective: Vitamin D deficiency is common in polish population and seem to play role in pathogenesis of some diseases. We looked for correlation between polymorphisms BsmI, TaqI, ApaI and FokI of vitamin D receptor and vitamin D influence on goiter development.Methods: One hundred and fifty two women-96 with and 56 without nontoxic goiter were examined in 2014. In US examination we calculated the volume of the thyroid gland and volume of nodules. Blood s...

Objective: There are many suggestions of predispositions to goiter in women with benign and malignant masthopaty, we looked for BRCA1 mutations in women wit and without goiterMethods: One hundred and fifty two women-96 with and 56 without nontoxic goiter were examined in 2014. In US examination we calculated the volume of the thyroid gland and volume of nodules. Blood samples for BRCA1 were taken, ex05 - p.Cys61Gly; ex 11 polymorphisms K1183R, mutations:...