Endocrine Abstracts

Herein, we report currently a 39-year old male with a 13-year history of asymptomatic hypercalcemia (mean 2.88 mmol/l; reference range 2.15–2.55 mmol/l) and mildly elevated parathyroid hormone (mean 68.7 ng/l; reference range 15–65 ng/l). Initially, in years 2007–2010 his laboratory picture was compatible with the diagnosis of Familial hypocalciuric hypercalcemia (FHH) with calcium-to-creatinine clearance ratio (Ca/Cr) between 0.008–0.009.Genetic testin...

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary tumor syndrome. Common manifestations include more than 20 tumors of the parathyroid, pituitary and pancreatic glands and others non-endocrine tumors. The majority of patients carry a germline mutation in a tumor-suppressor gene MEN1, that encodes nuclear protein menin, ubiquitously expressed. So fare, more than 600 germline or somatic mutations have been reported over the...

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...

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...

ObjectivePrimary hyperparathyroidism (PHPT) is a common endocrine disorder affecting 2% of the population aged 55 years or older. Primary hyperparathyroidism is due to parathyroid adenoma in about 85% of cases, parathyroid hyperplasia in about 15% of cases, and parathyroid carcinoma in less than 1% of cases. Familial parathyroid disorders are responsible for 10% of the PHPT cases and include among other disorders caused by parafibromin malfunction. Paraf...

Background: Patients with type 2 diabetes (T2DM) are generally known to have increased risk of various types of cancer. However, the studies addressing the association between T2DM and thyroid cancer are heterogeneous and inconclusive. The aim of our study was to evaluate the patients who have already undergone thyroid surgery with histologically confirmed results as the ‘gold standard’.Methods: A retrospective study in 102 patients (74 women a...

Introduction: Familial and hereditary forms of primary hyperparathyroidism (PHPT) represent a small minority of all patients with PHPT (5 – 10%). The surgical approach is different in such cases than in sporadic PHPT. Hereditary PHPT may be syndromic (multiple endocrine neoplasia: MEN – type 1, 2A or 4 and others) or nonsyndromic (familial isolated PHPT). The aim of the study was to identify and describe hereditary and familial forms of PHPT in patients referred to p...

Objectives: Fine needle aspiration biopsy (FNAB) together with ultrasonography is a necessary tool for diagnosis and follow up of thyroid nodules. Molecular testing is increasingly used mainly for indeterminate categories of the Bethesda System for Reporting Thyroid Cytopathology revised in 2017. Our aim was to introduce a routine molecular analysis of the main genetic causes of thyroid cancer.Methods: Since 2017 we have analyzed 1171 samples of patients...

Objectives: Molecular testing of fine-needle aspiration biopsy (FNAB) samples is increasingly used mainly for indeterminate categories of the Bethesda System for Reporting Thyroid Cytopathology. Our aim was to introduce a routine molecular analysis of the main genetic causes of thyroid cancer.Methods: In total, 1354 FNAB samples of thyroid nodules were analyzed. Testing procedures mainly in samples evaluated as Bethesda categories III and above were grad...