Endocrine Abstracts

Melanocortin-4 receptor (MC4R) gene is expressed in the brain and has been implicated in mediating most of the effects of melanocortin on food intake and energy expenditure. Common variants of MC4R gene are associated with fat mass, weight, risk of obesity and insulin resistance in several populations.We investigated if rs12970134 A/G is associated with obesity and studied its possible metabolic effects.Polymorphism was assesed by ...

Introduction: Graves’ disease (GD) is the most common cause of hyperthyroidism. The first-choice therapy is administration of thyreostatic drugs. However, approximately half of patients relapse within two years of discontinuation. It is then necessary to decide whether to re-initiate thyreostatic treatment, which may have serious side effects, or to choose a radical approach (TTE, radioiodine). Familial forms of GD indicate that the disease has a significant genetic compo...

Introduction: The most common causes of hypercalcemia are primary hyperparathyroidism and malignancy. Malignancy-related hypercalcemia occurs in approximately 20% - 30% of all cancer patients during their clinical course and mainly affects patients with solid tumors such as breast carcinoma.Case Report : 57 yrs old woman was referred for hypercalcemia and osteoporosis. Laboratory: calcium 2.8 mmol/l (normal range 2.15 - 2.55) calculated ionized calcium 1...

Objectives: Mutations in the DICER1 gene represent driver events in development of pediatric thyroid nodules, malignant as well as benign. The occurrence of these mutations has been reported in differentiated thyroid carcinomas, poorly differentiated thyroid carcinomas, non-invasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTPs), multinodular goiters and follicular adenomas. The aim of this study was to detect mutations in DICER1 g...

Introduction: Medullary thyroid carcinoma (MTC) is a calcitonin-producing tumor that predominantly occurs in a sporadic form (75%) and less commonly in an inherited form. Besides activating germline mutations of the RET proto-oncogene in hereditary syndromes of MEN2, somatic RET mutations are detectable in about 50% of sporadic MTC. Further, also RAS mutations have been discovered in 30% of RET-negative tumor tissues. Other genetic alteratio...

Introduction: Parathyromatosis is a rare cause of recurrent hyperparathyroidism defined as small nodules of hyperfunctioning parathyroid tissue in the soft tissues of the neck or mediastinum. The most common cause is probably the implantation of parathyroid cells into surrounding tissue during surgery and the risk of parathyromatosis increases with repeated parathyroid surgery. There is an overlap in the histologic features in parathyromatosis, atypical adenoma, and parathyroi...

Background: Primary hyperparathyroidism can occur at any age, the typical patient is a postmenopausal woman, primary hyperparathyroidsim is found rare by pregnant women. The maternal symptoms are similar to the symptoms by postmenopausal women.Materials and methods: Among the years 2000-2022 we have performed 3459 operations (including 6,6% reoperations) with diagnosis of hyperparathyroidism, there were six women, who underwent parathyroidectomy during p...

Objectives: Although, almost all patients with inherited medullary thyroid carcinomas (MTC) harboured RET proto-oncogene mutation, in patients with sporadic MTC, mutations in RET are detected only in half of cases. Thus still unknown genetic causes are responsible for half of sporadic MTC and it is necessary to search for another mutations.Methods: DNAs from fresh frozen thyroid tissues of 27 sporadic MTC were extracted. The next-genera...

Introduction: Thyroid carcinomas are the most often endocrine malignancy and their incidence is still growing. Thus, the finding of genetic predispositions to the thyroid cancer is desired. One of the genetic causes can be risk variants of tumor suppressor genes in patients. Our goal was to determine the influence of polymorphisms Val109Gly (T/G) in gene CDKN1B encoding protein p27/Kip1 and Arg72Pro (C/G) in gene TP53 encoding protein p53 on the development of thyroid cancer. ...

IntroductionThe MTNR1B gene encodes a receptor for melatonin, a hormone that controls biorhythms. The gene is expressed primarily in the brain, but also in human pancreatic cells. Genetic studies suggest that variability in the MTNR1B gene is one of the factors sought to influence the pathophysiology of type 2 diabetes mellitus (T2DM). The single nucleotide polymorphism rs10830963 shows the strongest association. Our aim was to compare ...