Endocrine Abstracts

Background: Pheochromocytomas are rare tumours arising from adrenal medulla. Recent findings show that about 30–40% of pheochromocytomas are caused by germline mutations in one of the ten hereto known susceptibility genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1, TMEM127 and MAX. This list of genes is constantly growing. These ten genes together consist of 128 exons and a genetic screening test is both extensive time-consuming and expensive. We introduce utilizing N...

Introduction: Catecholamine-secreting tumors (pheochromocytomas and paragangliomas) are rare intra and extra-adrenal neoplasms, probably occurring in less than 0.2% of patients with hypertension. Serious morbidity and mortality rates are associated with these tumors which are related to the effects of catecholamines on various organs, especially those of the cardiovascular system.Methods: We reviewed the cases of pheochromocytomas and paragangliomas that...

Background: The current recommendation on the use of venous sampling is reserved for difficult cases of small pheochromocytoma. Bilateral adrenal venous sampling (BAVS) with glucagon stimulation has been reported to be safe and useful in the early diagnosis of the disease. For bilateral lesions, localization can be challenging but highly important since the removal of the dominant side can markedly improve fatal cardiovascular outcomes as a consequence of chronic hypertension....

Pheochromocytomas, tumors derived from adrenal medulla, are characterized by a polymorphic clinical picture dominated by paroxysmal hypertension. Between the clinical, laboratory and pathology data, discordances are frequently seen.Patients and Methods: Thirty five cases of pheochromocytoma and paraganglioma (10 men) with adrenal tumors and hypertension were confirmed with pheochromocytoma. They were aged 53.68±12.75 years (36–75), while the tu...

Introduction: Dolichols are isoprenoids, which are synthesized from acetyl-CoA via mevalonic acid, and they are known to be abundant in endocrine system. Adrenal medulla, which is not only an endocrine organ but also an organ derived from neural crest, secrets catecholamines via sodium and subsequent calcium influxes into the cells through nicotinic ACh receptor-operated cation channels and voltage-sensitive calcium channels, respectively, when the medulla is stimulated by ace...

Background: The symptom triad of ’headaches, palpitations and sweating’ along with elevated urinary catecholamine levels are commonly used to diagnose phaeochromocytoma. We wanted to assess how often patients with histologically verified phaeochromocytoma did not have this triad or had normal urinary catecholamine excretion on one occasion or more.Methods: Retrospective analysis of clinical presentation and urinary catecholamine levels in 75 pa...

Introduction: Pheochromocytoma is a tumour of chromaffin cells of the sympathetic nervous system and its clinical symptoms are associated with excessive production and release of catecholamines.Case report: We report a rare case of non-functioning malignant adrenal oncocytic pheochromocytoma incidentally found during yearly repeated ultrasound abdomen examination in a 78-year-old man with history of cardiovascular diseases: aortal abdominal aneurysm, isc...

Introduction: Cushing’s syndrome caused by adrenocorticotropic hormone-producing pheochromocytoma has been rarely reported. In such cases, the high production of ectopic adrenocorticotropic hormone produced by pheochromocytoma results in bilateral adrenocortical hyperplasia and thus in consecutive Cushing’s syndrome. We report a case of a 43-year-old patient with a 6 cm right-sided adrenal tumor producing both elevated levels of catecholamines and adrenocorticotropic...

Germline mutations in the succinate-dehydrogenase subunits A, B, C, and D (SDHA/B/C/D) predispose to development of the phaeochromocytoma-paraganglioma (FPGL) syndromes. SDHC and SDHD are anchoring proteins located in the inner mitochondrial membrane. The SDH complex has two major roles in energy production it is part of the tricarboxic acid cycle catalysing the oxidative dehydrogenation of succinate coupled to the reduction of ubiquinone. It is also the complex II component o...

Background: Typical presentation of adrenal pheochromocytomas (PHEOs) is a combination of variable hypertension with paroxysmal symptoms. However, recent improvements in diagnostic imaging techniques and increasing availability of genetic testing have facilitated presymptomatic diagnosis of PHEOs.Objetive: To analyse the clinical features at presentation of PHEOs in a multicentric study population.Design and patients: Seven Spanish...

The main concern of endocrinologist exploring an adrenal incidentaloma (AI) is the identification of malignant and/or secretant AI leading to rapid cure by removal of the tumor. PH remains one of the most difficult lesions to diagnose. In this study we analyze PH clinic, morphologic and secretory profile. Among a series of 91 AI recruited between 1987 and 2007 having benefited from an adrenal exploration, 56 have been removed and 18/56 were diagnosed as tumors of medullar orig...

Introduction: Metoclopramide is known to exert stimulatory effects on catecholamine secretion, having been used in the past as provocative test in the diagnosis of pheochromocytoma. We describe a patient with an incidentally discovered pheochromocytoma after metoclopramide administration.Case report: A 64 years-old woman underwent total thyroidectomy for multinodular goiter with ‘follicular proliferation Thy 3’ at FNAB of the target nodule. The...

Previously asymptomatic 29-year-old Saudi male patient, presented to with a history of dizziness, abdominal pain and diarrhea for three days.His morning 800 h serum cortisol was 6.4 μg/dl (normal: 5–25 μg/dl); plasma ACTH was 7579 pg/ml (normal: <46.00). The diagnosis of acute adrenal crisis was made which confirmed later by a defective rise in the cortisol level with ACTH stimulation test.The patient was admitte...

Introduction: Pheochromocytoma occurs in 50% of patients with multiple endocrine neoplasia syndrome type 2A (MEN2A). It is characterized by bilateral location, production of large amounts of adrenalin and a benign course, extraadrenal location being rare. Diagnosis is achieved by measuring catecholamines and metanephrines in serum or urine and/or through imaging techniques, including CT, MRI and 123I-MIBG scintigraphy.Objective: To describe clinical feat...

IntroductionNeurofibromatosis type 1 (NF-1) is a relatively frequent syndrome, with an estimated incidence of 1/3000 per year. Patients with NF-1 are at an approximately fourfold higher risk of developing tumors than the general population, most frequently gastrointestinal stromal tumors, central nervous system tumors and endocrine tumors. Pheochromocytoma may occur in about 1% of these patients.Case report: We report a 56-year-old...