Endocrine Abstracts

Introduction: Although Graves’ disease is often accompanied by other autoimmune diseases, only a few cases of Graves’ disease accompanied by pheochromocytoma have been described.Herein we report a rare case of coexisting Graves’ disease and pheochromocytoma.Observation: A 50-year-old male patient was referred to our department for the evaluation of right adrenal incidentaloma of 80*66 mm. He had a history of coronary...

Background: Individuals with neurofibromatosis type-1 (NF1) carry an increased risk of pheochromocytoma (PHEO). Detection strategy is unknown but most experts recommend screening if hypertension develops.Objective: Report the characteristics of PHEO in patients with NF1 (NF1 group) and compare them with non-NF1-associated PHEO (non-NF1 group).Methods: Retrospective cohort study of patients undergoing PHEO resection in two Spanish t...

Pheocromocytomas (PHEO) are catecholamine secreting tumours which can occur sporadically or as part of other hereditary/familial syndromes including Neurofibromotosis 1 (NF-1). Unlike the case with other genetic syndromes, the current neurofibromatosis guidelines do not recommend a routine hormonal screening strategy for PHEO in the absence of hypertension or other symptoms. In this paper we describe 2 asymptomatic and normotensive patients with NF-1 where secretory PHEO were ...

Introductıon: Pheochromocytoma is a tumor originating from the chromaffin cells. These tumors secrete catecholamines which act on target organs and cause hypertensive crises. They are rare during pregnancy, and a differential diagnosis must be carried out mainly with pregnancy-induced hypertension.Case: A 27-year-old patient in week 17 of pregnancy admitted to our clinic with hypertension and 45×55 mm heterogeneous nodular lesion in left surren...

Defective p27 function predisposes mice and rats to pheochromocytomas (PCC), and reduction of p27 repression is a feature of human PCCs. These findings suggest that p27 plays a role in PCC tumorigenesis. Recently, it was reported that p27 indirectly regulates gene transcription by associating with transcription factors (TF) and inhibiting gene transcription at specific promoters.We hypothesized that defective p27 promotes tumor formation in adrenomedulla...

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. Tumor microenvironment plays a pivo...

Paragangliomas are rare neuroendocrine tumors derived from neural crest cells: if localized in the adrenal medulla they are called Pheocromocytomas (Pheo).The 30–40% of Pheo are mutated in one of the susceptibility genes among which there are genes encoding for the four subunits of the succinate dehydrogenase (SDH). Germ line mutations of SDHB are metastatic in about 80% of the cases. Surgery is the current therapy, but in presence of metastasis there is no effective trea...

Objective: To assess clinical features, diagnosis, treatment and outcome in patients with pheochromocytoma surgically treated in the past 3 decades in two tertiary referral hospitals.Methods: A retrospective study on clinical and pathological characteristics, treatment, and outcome in patients with pheochromocytoma followed up in specialized neuroendocrinology units who underwent surgery in the period 1981–2016 was performed.R...

Introduction: Biochemical testing for Paraganglioma/Pheochromocytoma (PGL/PHEO) is recommended in patients with classical symptoms, in those harbouring an adrenal incidentaloma and in patients who have a hereditary risk for developing a PGL/PHEO. Measurements of plasma free metanephrines and/or urinary fractionated metanephrines provide a highly sensitive test for diagnosis but false-positive results remain a problem.Aim: Comparative analysis of plasma a...

Introduction: Catecholamine secreting tumors are rare neoplasias. About 15% are paragangliomas. If untreated, they are almost invariably lethal. Surgery is the only curative therapy.Case report: A female caucasian patient aged 32 was evaluated in the endocrine department. She had a dramatic medical history: Fallot’s Tetralogy was diagnosed soon after birth but was not corrected. Only a Blalock-Taussing shunt was performed after three isquemic stroke...

Introduction: In this audit we explored the treatment and follow up of pre-2016 cases against the 2016 European Society of Endocrinology (ESE) guidelines on PPGL follow-up.Results: Demographics of the patients revealed 50% were male with median age (45±5), 82% of patients underwent surgery of which 73% were diagnosed with adrenal phaeochromocytomas & 27% with paragangliomas. Only 64% of surgical cases were followed up in clinic in the last year....

Objective: To retrospectively evaluate the results of the pheochromocytoma surgery in our institution assessing the surgical complications, perioperative hemodynamic instability and oncologic outcomes.Methods: The medical records of patients admitted for pathologically confirmed pheochromocytoma between 2000 and 2015 were reviewed. Patients with paragangliomas were excluded.Results: We identified 40 patients with 43 resected pheoch...

Introduction: Paragangliomas/pheochromocytomas present frequently with vague symptomatology which makes its diagnosis difficult and challenging. Cuantification of fractionated metanephrines and fractionated catecholamines in 24 h urine sample are used for diagnosis. There are situationes that can produce false positive results such as stress, drugs or smoking that must be taken into account.Patients and methods: Retrospective study on the requests made f...

Introduction: Patients with germline mutations in one of the succinate dehydrogenase (SDH) genes are at substantially increased risk of developing paragangliomas (PGL) and pheochromocytomas (PCC). Mutations in SDHB are the most commonly found gene mutations in PC/PGL and are associated with younger ages at presentation, higher rates of metastases and poorer prognosis. Although familial PGL syndromes were initially thought to predispose only for PCC and PGL, other tumor types s...

Introduction: Feochromositoma is a rare neuroendocrine tumor derived from chrommaffin cells of adrenal medulla. The most characteristic clinical symptoms are headache, perspiration, palpitation, and paroxysismal hypertension. Childhood feochromositoma is generally genetic while it is mostly sporadic in adults. Here we report three feochromositoma cases in whom two had von Hippel Lindau syndrome (VHLs).Case 1: 10 years old girl with admitted with fever. H...

Case: A 75-year-old male patient was treated for lung adenocarcinoma 12 years ago. During the routine imaging studies of the patient who was followed without treatment after curing, a suspicious, non-adenomatous lesion in the right adrenal gland, 16×9 mm in size was detected by thoracic computed tomography. Serum aldosterone/renin ratio and urine catecholamine tests were normal with no complaints of suspicion for pheochromocytoma. F18FDG PET-CT showed an increase in metab...

We report a case of a male patient aged 45 years who presented with a history of intermittent back discomfort over a year, but more persistent over the previous 2–3 months. His general practitioner (GP) referred him for an ultrasound of the spine for a possible encapsulated lipoma but the findings were unremarkable. He was then referred to a consultant gastroenterologist for further assessment. He had normal endoscopic examinations, however the MRI had shown a right adren...

Introduction/case report: Diabetes mellitus is an important clinical manifestation of catecholamine excess in patients with pheochromocytoma, and glucose control is usually better after tumour removal. Both impaired insulin secretion and increased insulin resistance have been implicated as underlying causes. We describe the case of a 38-year-old male patient diagnosed with left adrenal pheochromocytoma and personal history of diabetes mellitus diagnosed at age 36, under treatm...

Clinical case: A 19-year-old male came to the Emergency Department complaining about a holocraneal nonpulsatile headache growing in intensity for the last 3 h, unresponsive to common analgesics. He had been suffering anxiety sleep deprivation, nervousness, tremor and heart palpitations for the last week. Family history was irrelevant, and the patient had no history of hypertension, dyslipidaemia, diabetes or smoking or medication use; he reported moderate alcohol, coffee and e...

Introduction: In most cases, adrenal masses are non-functioning adrenocortical adenomas. On ‘Management of adrenal incidentalomas: European Society of Endocrinology Clinical Practice Guideline’ published in 2016, the experts ‘suggest against repeated hormonal work-up in patients with a normal hormonal work-up at initial evaluation unless new clinical signs of endocrine activity appear or there is worsening of comorbidities’.C...

A 27-year-old male without relevant familial or personal history had three TIAs in the last year, lasting for about 20 min with partial right palsy and aphasia. By the time he was cared for in the Emergency Department. he had already recovered; his lab tests, chest X-ray and EKG were normal but his BP was high (PAS 170–190 mmHg, PAD 105–120 mmHg). He had no chest pain, headache or neurovegetative symptoms. On discharge the patient was treated with manidipine and ASA ...