Endocrine Abstracts

Pituitary tumor is a rare endocrine disorder. In the majority of cases, they are secreting prolactin and/or GH. Pituitary metastatic tumors are localized more often in the nervous than adenomatous hypophysis. Lung, breast and large intestine cancers metastases are found in the pituitary in the most cases. They cause hypopituitarism and local complications. The most often complications found are an optic nerve chiasm pressure or infiltration with a visual field loss, cavernous ...

Introduction: Autoimmune polyglandular syndrome type 2 (APS type 2) is co-occurrence of primary adrenal insufficiency (Addison disease) and autoimmune thyroid disease – most commonly Hashimoto thyroiditis (Schmidt syndrome). If it is associated with type 1 diabetes mellitus it is known as Carpenter syndrome. We present clinical pictures of two 33-year-old patients (born in 1980) diagnosed with APS type 2 manifested as Carpenter syndrome to emphasize different courses of t...

Introduction: Brown tumor–well circumscribed lytic lesion is one of the complication of advanced stage of primary and secondary hyperparathyroidism. It may be also a first clinical sign of primary hyperparathyroidism. Nowadays this is rare manifestation in developed countries due to increased use of routine screening laboratory examinations. Brown tumors may also mimic true neoplasm and lead to misdiagnosis if close attention is not paid. We present three case reports and...

Introduction: Multiple endocrine neoplasia type 2A (MEN2A) is a multi-glandular autosomal dominant genetic disorder which, most typically, includes medullary carcinoma of the thyroid, pheochromocytoma and primary hyperparathyroidism. The authors present a case study of a young man in whom cardiogenic shock was the first manifestation of pheochromocytoma and MEN2A.Case report: A 30-year-old man without a past history of hypertension or any other chronic m...

Background: Proliferating cell nuclear antigen (PCNA) is a cell cycle marker protein. It interacts with more than 100 proteins involved in DNA replication, DNA repair, cell cycle control, chromatin remodeling/epigenetic inheritance, chromatid cohesion and transcription. Cyclin-dependent kinase 1 (Cdk1) is a serine/threonine protein kinase which regulates diverse cell cycle transitions (G1/S, S and G2/M phases) and associates with different cell-cycle stage-specific cyclins. Bo...

Background: Parafibromin is an ubiquitously expressed protein and a member of the polymerase-associated factor 1 complex associated with RNA polymerase II, which regulates transcription elongation, histone modification and cell proliferation. It is encoded by the CDC73 gene also known as the HRPT2 gene. Endogenous parafibromin inhibits expression of MYC gene that encodes the c-Myc proto-oncogene. Parafibromin has three nuclear localization signals, a...

Introduction: Pituitary apoplexy is a life-threatening entity developing as a result of ischemia or hemorrhage into pre-existing pituitary tumor. Clinical course is characteristic and commonly consists of severe headache accompanied by nausea, emesis, impaired consciousness, visual field impairment as well as eyeballs movement restriction. Symptoms are typically accompanied by secondary adrenal insufficiency. Corticosteroids are drugs of choice regarding coexisting adrenal ins...

Nelson’s syndrome (NS) is a rare clinical syndrome of an enlarging, aggresive corticotroph pituitary adenoma that can occur following bilateral adrenalectomy performed in the treatment of CD.The aim of this work is the evaluation of the early and long-term results of the microsurgery in a single surgeon’s series of patients with NSDuring the period from January 2000 to December 2005 - ten patients with NS have been operat...

Objectives: Aberrances in expression and sequence of miR-146a have a well-established role in pathogenesis of papillary thyroid carcinoma (PTC). The G/C heterozygosity in rs2910164 of miR-146a underlies genetic predisposition to PTC and occurs as a somatic mutation in thyroid tumors. Deleterious function of rs2910164 consists in creation of a new variant of microRNA, resulting from the fact that a single microRNA precursor gives rise to −5p and −3p microRNAs. The S...

Introduction: Primary hyperaldosteronism (PHA) is the most common hormonal cause of secondary hypertensionconnected with substantially higher cardiovascular morbidity and mortality than essential hypertension (EH). The association between aldosterone excess in PHA and mutations in KCNJ5 and CACNA1D genes has been previously described and the possible relation with gene polymorphisms was to consider. The present study is to assess possible association between polymorphisms of i...