Endocrine Abstracts

Introduction: Hyperglycaemia occurs frequently in catecholamine-secreting tumours due to insulin suppression or induced insulin resistance. These changes can be reversible postoperatory (postOp).Objective: Our study aims to establish the impact of surgery in patients with catecholamine-secreting tumours upon glucose metabolism disorders, as well as the predictive factors for postOp diabetes-free patients.Methods: We retrospectively...

Ad Adrenocortical carcinoma (ACC) is an aggressive tumour and treatment remains unsatisfactory in advanced disease. Activation of epithelial to mesenchymal transition (EMT) is considered causative for metastatic spread in a variety of human cancers. Accordingly, new drugs were developed specifically targeting EMT with a focus on hepatocyte growth factor (HGF)/HGF receptor (c-MET) and fibroblast growth factor (FGF)/FGF receptor (FGFR) signalling.We here a...

Introduction: Germline mutations in succinate dehydrogenase complex (SDHx) are a risk factor for developing Pheochromocytoma (Pheo) and/or Paragangliomas (PGL) (named together PPGL), being responsible for approximately 30% of cases. The precise genotype-phenotype correlations and best management strategies are still uncertain.Objective: To characterize the clinical features and genotype-phenotype associations in a group of SDHx-mutated PPGL patients....

Exosomes are nano-sized vesicles secreted by the cells in the exatracellular fluids representing a novel way of intracellular communication. Exosomes secreted from blood cells like monocytes and platetes have been reported to be checkpoints involved in haemostatic and thrombotic response. Glucocorticoids are inducing a profound alteration of blood cells homeostasis with atherothrombotic, bleeding and immune response alterations. Hereby we quantified for the first time circulat...

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30-40% of Pheo/PGLs are due to a germ-line mutation in one of the 13 main susceptibility genes which include the genes encoding the four subunits of the succinate dehydrogenase (SDH - mitochondrial complex II). In PHEO/PGL due to SDHB mutations up to 80% of affected patients develop metastatic disease and no successful cure is at present available. To obtain an experimental model resembli...

Background: Pheochromocytomas (PHEO) are rare neuroendocrine tumors derived from chromaffin cells of the adrenal medulla. Catecholamins’ secretion is associated with a high risk of cardiovascular complications. Malignancy is rare, but still demands effective treatment. Metformin has been shown to have antiproliferative properties in several cancer cell lines, possibly related to its ability to inhibit cell proliferation pathways. Accordingly, we aimed to evaluate the effe...

Tumours caused by mutations in the SDH enzyme complex have a unique tumour metabolome due to a truncated citric acid cycle. The accumulation of the onco-metabolite succinate is believed to drive tumourigenesis. The aim was to investigate the role of MRI spectroscopy (H-MRS) to detect in vivo succinate elevations in suspected SDH deficient tumours including GIST, phaeochromocytoma/paraganglioma (PPGL) and pituitary adenomas (PA). Suitable patients were identified based...

Introduction: Alterations of the cAMP signaling pathway are described in adrenal tumors causing Cushing syndrome, specifically mutations in the gene coding for the protein kinase A (PKA) catalytic subunit alpha (PRAKCA) in cortisol producing adenomas (CPA) with overt Cushing syndrome.Materiel and Methods: Eight CPAs without PRKACA mutations were analyzed by whole exome sequencing. Direct sequencing of PRAKCB encoding for the catalytic subunit beta (C&#94...

Germline mutations in the succinate dehydrogenase subunit-B gene (SDHB) are well recognised for predisposing to head and neck paraganglioma, sympathetic paraganglioma, phaeochromocytoma and renal cell carcinoma. The co-existence with pituitary adenomas remains uncommon.We report a 31-year-old female who presented at age 29 years old with 9 months of secondary amenorrhoea. Prolactin was 3000 mIU/l and a 1.7-cm macroprolactinoma revealed on MR pituitary. T...

DIPNECH is pre-invasive precursor to carcinoid tumors and tmorlets, most of which present with pulmonary symptoms. We present a case of ectopic cyclical ACTH producing DIPNECH.33-year lady presented with a short history of weight gain, abdominal striae, proximal myopathy and secondary amenorrhoea. She reported a previous episode with similar symptoms one year earlier which resolved spontaneously after a few weeks. Random cortisol 4000 nmol/l, ACTH 98 ng/...

Case description: A 25-year-old male was admitted to the Intensive Care Unit due to progressive muscle weakness, difficulty walking, weight loss, headache, chest discomfort, type 1 diabetes for few months. He was confused and irritated, with “moon” face, facial plethora, acne, and hyperpigmentation of the skin, few obscure red-bluish striae and significant wasting of proximal and distal muscles of lower limbs. Cortisol hypersecretion due to ectopic ACTH production wa...

Rare cases of Cushing’s syndrome have been diagnosed only based upon bone manifestations. Fracture risk is related to individual susceptibility to glucocorticoids that is genetically determined by several factors, including VDR gene polymorphism.We report three patients with VDR FokI gene polymorphism and multiple non-traumatic pathologic fractures as the presenting manifestation of Cushing’s syndrome.The second case is a...