Endocrine Abstracts

Introduction: Primary aldosteronism (PA), the most common endocrine cause of secondary hypertension, is generally underdiagnosed using current diagnostic tests.Aim: To present our 14-year experience of prospective studies on the diagnosis, prevalence and treatment of PA.Patients and methods: We studied 992 hypertensive patients and 278 age-, sex- and body mass index – matched controls (194 normotensive and 104 with essential h...

Introduction: Survival rates for ovarian cancer remain distressingly low. Despite established prognostic factors, the need for identifying modifiable parameters to influence survival outcomes is imperative. Overweight and obesity, prevalent conditions, have been implicated in cancer development and potentially poor survival. However, conflicting data on the association of Body Mass Index (BMI) with Progression-Free Survival (PFS) and Overall Survival (OS) in ovarian cancer pat...

Introduction: Adrenoleukodystrophy (ALD) is a rare, X-linked inherited, genetic disease, characterized by a disorder of peroxisome metabolism, leading to the accumulation of very long-chain fatty acids (VLCFAs) mainly at the central nervous system and the adrenal glands. It usually occurs in childhood, but there are types of the disease that manifest later in life.Case: A 57-year-old man with a history of progressive spastic paresis, starting at the age ...

Background: Pheochromocytomas are catecholamine-producing neuroendocrine tumors, arising from the adrenal medulla or from paraganglionic chromafin tissue. Their clinical presentation, mainly attributable to the increased catecholamine production and it is highly variable. We herein present a case of a 42-year-old female patient with recurrent episodes of Takotsubo cardiomyopathy due to a pheochromocytoma.Case presentation: The patient presented two years...

Introduction: Pituitary gigantism is a rare disorder caused by GH-secreting lesions.Aim: We studied gigantism for genetic defects.Methods: We performed genome-wide analyses in 46 patients with gigantism and 248 patients with acromegaly.Results: We detected a novel microduplication at chromosome Xq26.3 in two unrelated kindreds and 13 sporadic cases de novo. All patients had disease onset before five ...

Background: The autoimmune polyglandular syndromes are clusters of endocrine abnormalities that occur in discreet patterns in subjects with immune dysregulation and that permit treatment and anticipation of associated systemic or other hormonal deficiencies. Three major entities are recognized, APS I, APS II and APS III. They are considered rare syndromes, but they are possibly not always thoroughly investigated. APS III, in contrast to APS I and II, does not involve the adren...

Background: Subclinical Cushing disease is defined by mild hypercortisolism that results from a corticotroph pituitary adenoma, without any typical sign of the disease. The patients often have coexisting metabolic diseases such as diabetes mellitus, and hypertension. Conversely, silent corticotroph adenomas demonstrate normal cortisol secretion, but positive immunochemistry for ACTH, most usually without ACTH hypersecretion, although they and can progress to clinical Cushing d...

Tumor heterogeneity affects diagnosis, prognosis and response to therapy. Heterogeneity is found in both normal and neoplastic human mammary gland. For example, luminal estrogen receptor (ER)-negative cells can give rise to various phenotypes, including ER-negative and ER-positive mammary tumors, suggesting that the cell-of-origin does not necessarily reflect the tumor type. Regarding ER status, heterogeneity can challenge endocrine therapies; elimination of responsive clones ...

A 46-year-old male was brought to the hospital by his uncle as he was found to be acutely confused and agitated ‘talking rubbish’ and giggling inappropriately. Last time he was seen well was 3 days ago. He was a cyclist who lived alone and his past medical history included Graves’ disease and AF. He was on propranolol, carbimazole and warfarin. A month ago he needed admission to a different hospital after falling off his bike. At that time he also developed conf...

Kinases represent a main therapeutic targets in cancer treatment as their impairing is related to tumor growth and progression. Despite the increasing evidence that tumor microenvironment (TME) signaling influences the behavior of surrounding cancer epithelial cells, still little is known about what changes in stromal cells influence tumor cells’ behavior. TNBC patients are still lacking an effective therapy, as not much is known about the biology of this BC tumor subtype...