Clinical Overview > Condition/ Syndrome > Phaeochromocytoma

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Omayma Elshafie Department of Medicine, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Yahya Al Badaai Department of Surgery, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Khalifa Alwahaibi Department of Surgery, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Asim Qureshi Department of Pathology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Samir Hussein Department of Radiology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Faisal Al Azzri Department of Radiology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Ali Almamari Department of Medicine, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Nicholas Woodhouse Department of Medicine, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Summary

A 48-year-old hypertensive and diabetic patient presented with a 10-year history of progressive right facial pain, tinnitus, hearing loss, sweating, and palpitations. Investigations revealed a 5.6 cm vascular tumor at the carotid bifurcation. Her blood pressure (BP) was 170/110, on lisinopril 20 mg od and amlodipine 10 mg od and 100 U of insulin daily. A catecholamine-secreting carotid body paraganglioma (CSCBP) was suspected; the diagnosis was confirmed biochemically by determining plasma norepinephrine (NE) level, 89 000 pmol/l, and chromogranin A (CgA) level, 279 μg/l. Meta-iodobenzylguanidine and octreotide scanning confirmed a single tumor in the neck. A week after giving the patient a trial of octreotide 100 μg 8 h, the NE level dropped progressively from 50 000 to 25 000 pmol/l and CgA from 279 to 25 μg/l. Treatment was therefore continued with labetalol 200 mg twice daily (bid) and long-acting octreotide-LA initially using 40 mg/month and later increasing to 80 mg/month. On this dose and with a reduced labetalol intake of 100 mg bid, BP was maintained at 130/70 and her symptoms resolved completely. CgA levels returned to normal in the first week and these were maintained throughout the 3 month treatment period. During tumor resection, there were minimal BP fluctuations during the 10 h procedure. We conclude that short-term high-dose octreotide-LA might prove valuable in the preoperative management of catecholamine-secreting tumors. To the best of our knowledge, this is the first report on the successful use of octreotide in a CSCBP.

Learning points

  • The value of octreotide scanning in the localization of extra-adrenal pheochromocytoma.

  • Control of catecholamine secretion using high-dose octreotide.

  • This is a report of a rare cause of secondary diabetes and hypertension.

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Maria Pikilidou Hypertension Excellence Center, First Department of Internal Medicine
Second Department of Internal Medicine, Papanikolaou General Hospital, Thessaloniki, Greece

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Maria Yavropoulou Division of Endocrinology and Metabolism, AHEPA University Hospital, Thessaloniki, Greece

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Marios Katsounaros Second Department of Internal Medicine, Papanikolaou General Hospital, Thessaloniki, Greece

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Summary

We report a case of a female with hemihypertrophy, who developed five recurrences of pheochromocytomas until the age of 35. Timely follow-up of the patient's blood pressure assisted in early diagnosis and treatment of recurrent tumors.

Learning points

  • Recurrent benign pheochromocytomas should raise suspicion of a genetic syndrome.

  • A pheochromocytoma at a young age has a high propensity to recur and strict follow-up is mandatory.

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C Mumby
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J R E Davis
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J Trouillas Department of Histology and Molecular Embryology, Université de Lyon, Lyon, France

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C E Higham Department of Endocrinology, Christie Hospital NHS Foundation Trust, Manchester, UK

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Summary

A 52-year-old lady was referred after a 5 cm left adrenal mass was detected on computed tomography (CT) scanning. She was asymptomatic although was noted to have acromegalic facies. Blood pressure (BP) was normal but plasma normetanephrines were raised to 2.81 mmol/l (<1.09) and urinary normetadrenaline excretion 5.3 μmol/24 h (0–4.3). Adrenal biochemistry screen was otherwise normal. Metaiodobenzylguanidine (MIBG) scan demonstrated uptake in the adrenal lesion. Growth hormone (GH) nadir on oral glucose tolerance test (OGTT) was 2.2 ng/ml with an elevated IGF1 level of 435 ng/ml (72–215), confirming acromegaly biochemically. The remainder of the pituitary screen was normal. A magnetic resonance imaging (MRI) scan of the pituitary revealed an enlarged pituitary gland with a microadenoma/cyst of 2–3 mm in diameter. Alpha blockade was achieved with a titrated dose of phenoxybenzamine before a successful laparoscopic hand-assisted left adrenalectomy. Postoperative biochemical testing revealed a normal plasma normetanephrine level of 0.6 nmol/l (<1.09) and a metanephrine level of 0.35 nmol/l (<0.46 nmol/l). Nadir on OGTT was normal at 0.07 ng/ml with an IGF1 level within the reference range at 111 ng/ml (75–215). Histology demonstrated a well-circumscribed and encapsulated oval mass with microscopic features typical for a phaeochromocytoma. The sections stained strongly positive for GHRH in 20% of cells on immunocytochemistry. Genetic analysis showed no pathogenic mutation. This is a report of the rare condition of a phaeochromocytoma co-secreting GHRH resulting in clinical and biochemical acromegaly. Neuroendocrine tumours can stain positive for GHRH without coexisting acromegaly, but the resolution of patient symptoms and normalisation of serum GH and IGF1 levels following surgery imply that this was functional secretion. Pituitary surgery should be avoided in such cases.

Learning points

  • Incidental findings on imaging require thorough investigation to determine the presence of serious pathology.

  • Acromegaly and phaeochromocytoma are rarely coincident in the same patient. If this occurs, co-secretion of GHRH from the phaeochromocytoma or the presence of underlying genetic abnormalities must be considered.

  • Acromegaly is due to ectopic GHRH-secreting neuroendocrine tumours in <1% of cases, most commonly pancreatic or bronchial lesions.

  • Co-secretion of GHRH from a phaeochromocytoma is extremely rare.

  • In such cases, the pituitary gland may appear enlarged but pituitary surgery should be avoided and surgical treatment of the neuroendocrine tumour attempted.

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R Casey Departments of Endocrinology

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S Prendeville Pathology

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C Joyce Department of Biochemistry, Cork University Hospital, Cork, Ireland

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D O'Halloran Departments of Endocrinology

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Summary

We present the case of a 30-year-old female who was diagnosed with hereditary phaeochromocytoma secondary to a rare gene mutation in exon 8 of the RET oncogene. This genetic mutation was picked up as part of an extended genetic screen using a method known as next generation sequencing. Detection of this genetic mutation prompted further screening for the manifestation of multiple endocrine neoplasia type 2A (MEN2A). The patient subsequently underwent a thyroidectomy with histology confirming C-cell hyperplasia.

Learning points

  • Genetic analysis is an important step in the diagnostic work up of phaeochromocytoma.

  • Extended genetic analysis is important when there is a strong suspicion of hereditary phaeochromocytoma.

  • Mutations in exon 8 of the RET gene are associated with phaeochromocytoma as part of MEN2A syndrome.

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