Endocrine Abstracts

Amiodarone is a potent and among cardiologists still very popular anti-arrhythmic drug. This case report describes severe course of amiodarone-induced thyrotoxicosis (AIT) which is one of the most serious side effects of the treatment. The patient (J S born in 1950) was first hospitalised in June 2012 for atrial fibrillation with rapid ventricular response and tachycardia-induced cardiomyopathy with a decreased ejection fraction (EF). Thyroid hormones were normal at that time ...

Adrenal incidentaloma is frequently encountered in endocrinological praxis, however in specific situations the proper investigation is almost impossible. A 60-years old patient was admitted to our intensive care unit with a myocardial infarction in cardiogenic shock requiring ionotropic support and intraaortic balloon counterpulsation. On account of ejection fraction 15–20% an urgent pretransplantation investigation was started. Abdominal ultrasound displayed a hypoechoge...

RET proto-oncogene is activated in the development of PTC via RET/PTC rearrangements. Single nucleotide polymorphisms (SNPs) of the gene are associated with PTC in some studies. We investigated possible association of SNPs with RET/PTC in Czech patients. We analyzed 234 patients with PTC (101 fresh frozen thyroid samples, 133 paraffin-embedded formalin-fixed samples) and 172 controls. RNA from frozen samples was reversely transcribed to cDNA. RET/PTC</i...

Background: Familial resemblance was shown for body composition and risk factors in several studies. In twin studies which are powerful tool to assess genetically mediated traits significant resemblance was found in twins reared apart. In pairs of monozygotic twins was found significant resemblance in response to positive and negative energy balance. Aim of the study was to evaluate relationship of anthropometric parameters of parents and socioeconomic characteristics of famil...

The aim of this study was to perform a randomized study to evaluate the role of haemorheopheresis in the treatment of severe thyroid associated ophtalmopathy (TAO). Twenty patients were enrolled. All patients were treated with methylprednisolone i.v. pulses (Solumedrol 1 g i.v. three times a week for 3 weeks – 9 pulses altogether). Ten randomly chosen patients were also subjected to haemorheopheresis (twice weekly for 2 weeks and than once in 3 weeks – 10 procedures ...

Familial medullary thyroid carcinoma (MTC), multiple endocrine neoplasia types 2A and 2B (MEN2A, 2B) and Hirschsprung disease (HSCR) are inherited neurocristopathies linked to germline mutations in the RET proto-oncogene. Activating germline RET mutations are presented in patients with FMTC, MEN2A and MEN2B, on the other hand, inactivating germline mutations in patients with HSCR. Nevertheless, there is an overlay in specific mutations in the exon 10 of the RET proto-oncogene....

Background: The combination of various endocrine tumours is presented both as hereditary syndromes and sporadic forms. Medullary thyroid cancer and prolactinoma are neuroendocrine tumours, the presence of these two pathologies simultaneously has not been previously described in the literature.Objective: To present a clinical case of a patient with giant prolactinoma and medullary thyroid cancer.Materials and Methods: To describe th...

Objectives: The identification of novel causing genes in thyroid carcinoma is very important in diagnosis and prognosis of the disease. Recently, The Cancer Genome Atlas (TCGA) study found EIF1AX, CHEK2 and PPM1D genes as new minor causing genes in the papillary thyroid cancer (PTC) development. The goal of this study was to detect variants in these genes in PTC, follicular thyroid carcinoma (FTC) and anaplastic thyroid carcinoma (ATC) cohorts.<p class="a...

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...

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...