Endocrine Abstracts

BackgroundIn about 2/3 of pheochromocytoma patients, no pathogenic germline variant can be identified that might be responsible for the onset of the disease. However, in many patients, we observe the repeated appearance of one or more common polymorphisms in the gene RET. Each of them has been shown to be of no significance for pheochromocytoma and multiple endocrine neoplasm type 2 development, when analysed individually. We decided to test whe...

Introduction: Pheochromocytomas (PHEO) and paragangliomas (PGL) - (PPGLs) are neuroendocrine tumors derived from chromaffin cells of the adrenal medulla or extraadrenal nonchromaffinic tissue, respectively. PPGLs occur in 0.05% to 0.1% of patients with secondary hypertension. Chromogranin A (CgA) is the main non-specific biomarker of neuroendocrine tumors. It is produced and secreted into the blood by endo- and neuroendocrine cells of various organs (e.g., adrenal glands). The...

Background: Pituitary abscess is a rare entity which is often not suspected in pituitary lesions differential diagnoses; arising de novo or as a consequence of sinus infection, meningitis, or haematogenous spread. The diagnosis is challenging and mostly made during surgery.Case Report: A 54-year-old male patient presented with 3 days of severe headaches, vomiting, and left eyelid drooping. He was afebrile, BP 90/61mmHg, and had a left third nerve palsy w...

Somatostatin analogues (SSA) are used to treat different forms of hyperinsulinemic hypoglycemia (HH) in children and adults and therapeutic effect is achieved by suppressing insulin secretion from pancreatic β-cells by complex mechanisms. These treatments might be associated with several side effects, can even cause the worsening of severity of hypoglycemia. This is a report of the treatment of HH with SSA in patient with Activating Mutation (GCK), c.295T>C (p.Trp99Ar...

Introduction: Pheochromocytoma is a rare tumor that develops from chromaffin cells of the adrenal medulla. In about 90% of cases, it is a benign tumor. Along with catecholamines, neuroendocrine cells of the adrenal medulla have the ability to produce various proteins and neuropeptides and secrete them into the blood. Among the known biologically active substances are: neuropeptide Y and human cocaine- and amphetamine-regulated transcript (CART).Purpose: ...

Familial non-medullary thyroid cancer (FNMTC) constitutes about 3–9% of all thyroid cancers. One of the genes believed to predispose to non-syndromic FNMTC is FOXE1. It contains a polyalanine tract (polyAla) with a variable number (11 – 22) of alanine residues. This length polymorphism could lead to changes in the FOXE1-encoded protein (FOXE1 transcription factor) structure and predispose to papillary thyroid cancer (PTC). The aim of the st...

Background: A significant body of research indicates that transgender and gender-nonconforming persons represent an underserved population susceptible to health care disparities. The attitudes and knowledge of medical doctors toward transgender people have important implications for the future quality of healthcare for transgender patients.Specific Aim: The aim of this study was an assessment of coverage of transgender care issues in training curricula o...

Androgen signalling plays a central role in the regulation of male reproduction. Androgens act predominantly by activating the classical intracellular androgen receptor (AR). In addition, alternative pathways may account for rapid effects of androgens via cytoplasmic or membrane-localized androgen receptor − ZIP9. In the testis, the main source of androgens, in particular testosterone, are Leydig cells. The proper synthesis of testosterone depends on the structural condi...

Introduction: Pancreatic neuroendocrine tumors (pNETs) are a heterogeneous group with various treatment options depending on grading, staging, and presence of symptoms related to hormonal secretion. Their incidence significantly increased over the past decade and nowadays constitutes 30% of all NETs of the gastrointestinal tract. Despite the evidence of a different malignancy potential of PNETs G2, postoperative management is the same in all patients. Ai...

Background: Although it is well-known that single pathogenic variants in the gene MEN1 are responsible for the development of multiple endocrine neoplasia type 1 (MEN1), the outcome of the disease in individual patients cannot be deduced from known genetic factors, the clinical picture of other family members, nor environmental data. Encouraged by publications suggesting a possible role of the genetic background in MEN1 outcome, we performed a study that aimed at sear...