Doğuş VURALLI, Nurgün KANDEMİR, Graeme CLARK, Diclehan ORHAN, Ayfer ALİKAŞİFOĞLU, Nazlı GÖNÇ, Saniye EKİNCİ, Alev ÖZÖN

A pheochromocytoma case diagnosed as adrenal incidentaloma

There are two problems that needs to be addressed in cases of an adrenalincidentaloma. The first is to decide whether the adrenal mass is benign ormalignant, and the second is to determine whether the mass is hormonallyactive or not. A 17-year-old male was admitted with the complaint ofprogressive weight gain. Abdominal ultrasonography was performed forelevation in transaminases which revealed a hypoechoic mass located in theleft adrenal gland. Hormonal investigations revealed an increase in fractionatedcatecholamine and metanephrine levels in 24-hour urine. Surgery was performedand pathological examination was in accordance with pheochromocytoma.Mutation analysis was carried out. This is a rare case of pheochromocytomapresenting as adrenal incidentaloma during adolescence. In view of this case,we review the approach to incidentally discovered adrenal masses and theapproach to pheochromocytoma. A mutation analysis should be performed onall cases with pheochromocytoma that are diagnosed below age 20.

PDF

___

1. Mansmann G, Lau J, Balk E, Rothberg M, Miyachi Y, Bornstein SR. The clinically inapparent adrenal mass: update in diagnosis and management. Endocr Rev 2004; 25: 309-340.

2. Grumbach MM, Biller BM, Braunstein GD, et al. Management of the clinically inapparent adrenal mass (“incidentaloma”). Ann Intern Med 2003; 138: 424- 429.

3. Kloos RT, Gross MD, Francis IR, Korobkin M, Shapiro B. Incidentally discovered adrenal masses. Endocr Rev 1995; 16: 460-484.

4. Terzolo M, Stigliano A, Chiodini I, et al. AME position statement on adrenal incidentaloma. Eur J Endocrinol 2011; 164: 851-870.

5. Walsh DM, Shalev SA, Simpson MA, et al. Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. Eur J Med Genet 2013; 56: 39-42.

6. Mantero F, Terzolo M, Arnaldi G, et al. A survey on adrenal incidentaloma in Italy. Study Group on Adrenal Tumors of the Italian Society of Endocrinology. J Clin Endocrinol Metab 2000; 85: 637-644.

7. Outwater EK, Siegelman ES, Radecki PD, Piccoli CW, Mitchell DG. Distinction between benign and malignant adrenal masses: Value of T1-weighted chemical-shift MR imaging. AJR Am J Roentgenol 1995; 165: 579- 583.

8. Nieman LK, Biller BM, Findling JW, et al. The diagnosis of Cushing’s syndrome: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2008; 93: 1526-1540.

9. Young WF, Jr. Clinical practice. The incidentally discovered adrenal mass. N Engl J Med 2007; 356: 601-610.

10. Lenders JW, Pacak K, Walther MM, et al. Biochemical diagnosis of pheochromocytoma: which test is best? JAMA 2002; 287: 1427-1434.

11. Lam KY, Lo CY. Metastatic tumours of the adrenal glands: a 30-year experience in a teaching hospital. Clin Endocrinol (Oxf) 2002; 56: 95-101.

12. Michalkiewicz E, Sandrini R, Figueiredo B, et al. Clinical and outcome characteristics of children with adrenocortical tumors: A report from the International Pediatric Adrenocortical Tumor Registry. J Clin Oncol 2004; 22: 838-845.

13. Mazzuco TL, Bourdeau I, Lacroix A. Adrenal incidentalomas and subclinical Cushing’s syndrome: Diagnosis and treatment. Curr Opin Endocrinol Diabetes Obes 2009; 16: 203-210.

14. Chen H, Sippel RS, O’Dorisio MS, Vinik AI, Lloyd RV, Pacak K. The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: Pheochromocytoma, paraganglioma, and medullary thyroid cancer. Pancreas 2010; 39: 775-783.

15. Zeiger MA, Thompson GB, Duh QY, et al. The American Association of Clinical Endocrinologists and American Association of Endocrine Surgeons medical guidelines for the management of adrenal incidentalomas. Endocr Pract 2009; 15 (Suppl 1): 1-20.

16. Hack HA. The perioperative management of children with phaeochromocytoma. Paediatr Anaesth 2000; 10: 463-476.

17. Amar L, Servais A, Gimenez-Roqueplo AP, Zinzindohoue F, Chatellier G, Plouin PF. Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma. J Clin Endocrinol Metab 2005; 90: 2110-2116.

18. Amar L, Bertherat J, Baudin E, et al. Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 2005; 23: 8812-8818.

19. Karasek D, Frysak Z, Pacak K. Genetic testing for pheochromocytoma. Curr Hypertens Rep 2010; 12: 456-464.