Endocrine Abstracts

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:...

Turner syndrome (TS), resulting from complete or partial loss of X chromosome, occurs in 1 per 2000-2500 liveborn female neonates. Most patients with TS, especially those untreated with growth hormone, present with osteoporosis or osteopenia, and are at increased risk of bone fractures. Available evidence suggests that depletion of bone mass may be associated with inadequate level of physical activity, and consequently, with too low muscle mass and strength. The aim of the stu...

Introduction: The prevalence of incidentally found adrenal tumors – adrenal incidentalomas (AI) – in imaging procedures and autopsy series is up to 4.5–8.7%. Endocrine and clinical evaluation is carried out to diagnose hormonal function or malignancy of the tumors. Nonfunctional adenomas comprise about 80% of AI. The aim of the study was to identify possible association between various clinical, hormonal and radiological features of nonfunctional AI.<p class...

Obesity is considered as a state of chronic, systemic low-grade inflammation. Likely causes include infectious factors, leptin, cigarette smoking, low serum HDL-cholesterol and high serum triglycerides. No definitive confirmation on the causative factor is available so far.The aim of the study was to evaluate serum levels of C-reactive protein (hs-CRP, sensitivity 0,085 ng/L), IL-6, IL-10, TNF-α and its soluble type 2 receptor (sTNF-αR-2) in vi...

Introduction: CHEK2 mutations are associated with increased risk of having neoplasms of various organs, including thyroid, breast, colon, renal and ovarian cancers. Coexistence of thyroid and breast cancers was observed in female carriers of CHEK2 gene mutations. In polish population the most common mutations are those truncating CHEK2 protein (1100delC, IVS2+1G>A, del5395) and a missense I157T CHEK2 mutation. Carrying missense I157T mutation is connected with having twice...

Introduction: CHEK2 gene is one of the genes in the DNA repair complex. Dysfunction of genes in this complex leads to genomic instability and is regarded as a cause of tumorigenesis. CHEK2 mutations spectrum was assessed in many populations, including polish one. The most common are mutations truncating CHEK2 protein (1100delC, IVS2+1G>A, del5395) and a missense I157T CHEK2 mutation. Literature data indicate that mutations truncating CHEK2 protein lead to a five-fold incre...

Introduction: Molecular testing play increasingly a significant role in pre-operative diagnosis of nodular goiter, as standard methods may not give conclusive decision in choosing optimal treatment approach. BRAF gene mutations are often discovered in the cytological specimens among the patients with papillary thyroid cancer. The aim of the study was to assess the incidence of BRAF T1799A mutation in cellular specimens derived from fine needle aspiration biopsy (FNAB)...