Endocrine Abstracts

Objective: The finding of new biomarkers is needed to have an early diagnosis of breast cancer. In this study we evaluated serum levels of carboxylated osteocalcin (OC) and uncarboxylated osteocalcin(UcOC), CRP as a diagnostic biomarker for breast cancer.Design and methods: Blood samples of 39 women with newly diagnosed breast cancer with stage I were obtained before surgery and 39 age and BMI matched health women were selected as controls.<p class="...

Introduction: Hyperparathyroidism-jaw tumour syndrome (HPT-JT) is a rare disorder, which is frequently characterized by the development of parathyroid carcinomas and atypical parathyroid adenomas and, thus, severe course of primary hyperparathyroidism (PHPT).Case reports: Two patients (1 male and 1 female, 18 y.o. and 13 y.o. at the time of diagnosis of PHPT, respectively) among a cohort of young patients (<40 y.o.) with PHPT, underwent next...

Introduction: The genetic causes of development of multiple endocrine neoplasia type 1 (MEN-1) phenocopies remain largely unknown.Aim of the study: To evaluate the role of genes associated with familial primary hyperparathyroidism (PHPT) in the development of MEN-1 phenocopies with the combination of PHPT and pituitary adenomas (PA).Materials and methods: 20 patients (19 females and 1 male) were included in the study. All patients ...

Background: In most cases of parathyroid carcinoma (PC) only recurrence could be a credible feature of malignancy.Clinical case: At the age of 19 years a woman was diagnosed with urolithiasis. At the age of 22 years she had a surgical resection of the neck nodule at the right site in the projection of carotid triangle. After the histological study, ectopic parathyroid tumor was misdiagnosis with paraganglioma (material is available for review). At the ag...

Familial Isolated Hyperparathyroidism (FIHP) is a hereditary disorder characterized by primary hyperparathyroidism (PHPT) with no evidence of other endocrine disorders. Germline MEN1, CDC73 and CASR mutations have been identified, but the majority of FIHP has still unrecognized causes. The aim of this study was to identify, by whole-exome sequencing, novel gene alterations in a large FIHP kindred. The family’s proband, her sister, brother and ni...

Background: Parathyroid carcinoma (PC) is a rare endocrine malignancy affecting 0.5–5% of all patients with primary hyperparathyroidism. Due to the rarity of PC there is still lack of prognostic implications of the disease and clear consensus regarding management. Our purpose was to evaluate prognostic factors and treatment outcomes of patients treated at the Department of Nuclear Medicine and Endocrine Oncology.Methods: The target group covered 44 ...

Introduction: Multiple endocrine neoplasia (MEN) syndromes are rare entities characterized by the occurrence of tumors involving two or more endocrine glands in a single patient. These syndromes are classified as type 1 or 2 according to specific phenotypic characteristics. MEN2 encompasses three different subtypes: MEN2A, MEN2B and familial medullary thyroid carcinoma. More recently a syndrome related to mutations in the CDKN1B gene has been described – the syndrome of m...