Endocrine Abstracts

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...

: The observed increase in the incidence of Hashimoto’s thyroiditis (HT) requires research on factors that may affect its development. One of them may be vitamin D deficiency which is an epidemiological problem all over the world.Aim: The assessment of influence vitamin D deficiency on the HT activity.Material and methods: 310 people were enrolled in the study: 155 patients with HT (a-TPO and/or a-TG positivity)-144 women (93%...

Classical form of congenital adrenal hyperplasia (CAH) is associated with the impairment of enzymes involved in process of adrenal steroidogenesis. More than 90% of CAH cases are connected with mutations in the 21-hydroxylase gene CYP21A2 in the HLA class III area on the short arm of chromosome 6p21.3. CAH is characterized by a strong correlation between the genotype and the phenotype. Mutations in the CYP21A2 gene can cause different degrees of loss of 21-hy...

The observed increase in the incidence of Hashimoto’s thyroiditis (HT) requires the research on environmental factors that may initiate or model its course. There have been reports of the impact of vitamin D3 deficiency on HT development.Objective: To assess the degree of deficiency of 25OHD3 and the relationship between the disease duration and 25OHD3 levels in patients with HT.Material and methods: 310 people were enrolled i...

BackgroundMultiple neuroendocrine neoplasia type 1 is a rare, heterogeneous genetic disorder with an autosomal dominant inheritance, predisposing to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localisation, age of onset and clinical aggressiveness, even between affected members of the same family. We report a heterogenic phenotype of the MEN1 variant c.[781C > T] (LRG_509t1) previously reporte...

Introduction: Hashimoto’s thyroiditis (HT) is a complex disease which is caused by genetic as well as environmental factors. While the genetic predisposition to HT has been extensively investigated, the influence of most environmental factors still needs to be evaluated. Based on our previous study, we did not find any correlation between HT and the fact of cigarette smoking or the number of pack-years. We did, however, find a significant correlation between the age of s...

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...

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 ...

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...

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...