, Volume 17, Issue 2, pp 279–284 | Cite as

A case of pheochromocytoma with negative MIBG scintigraphy, PET-CT and genetic tests (VHL included) and a rare case of post-operative erectile dysfunction

  • Giuseppe DefeudisEmail author
  • Elvira Fioriti
  • Andrea Palermo
  • Dario Tuccinardi
  • Angelo Minucci
  • Ettore Capoluongo
  • Paolo Pozzilli
  • Silvia Manfrini
Case Report



Pheochromocytoma (Ph) is a rare catecholamine-secreting neuroendocrine tumour that arises from the chromaffin cells of the adrenal medulla. Ph usually presents with symptoms including paroxysmal headache, sweating, palpitations, and hypertension.

Clinical case

During a computed tomography (CT) scan in a normotensive 49-year-old man, an incidentaloma of 4.5 cm was detected. Hypercortisolism was excluded after the dexamethasone suppression test, levels of DHEAS all falling within the normal range. After a 24-h urine collection, normal urinary metanephrines and a 4-fold higher level compared to the normal range of urinary normetanephrines were observed. Cortisoluria levels were within the normal range. Multiple endocrine neoplasia type 2 (MEN 2) was also excluded. Before the adrenalectomy, 123I meta-iodobenzylguanidine scintigraphy (MIBG) and 18F-fluoro-2-deoxy-d-glucose-positron emission tomography (FDG PET)/CT were performed and were both negative. Histological examination confirmed the laboratory diagnosis of Ph. Genetic screening to evaluate the SDHB, SDHD, RET, CDKN1B, and VHL genes was requested in order to test for Von Hippel Lindau disease, but unexpectedly all of these were negative. On follow-up after surgery, the patient presented normal urinary catecholamines. However, after Ph removal, he reported frequent episodes of erectile dysfunction (ED) despite non-use of any antihypertensive medications and in the absence of any other precipitating factors, such as hormonal imbalance.


This is a case report in which, in a normotensive patient with Ph, both MIBG and FDG PET-CT were negative, as were also genetic exams, including VHL, this underlining the difficulties in diagnosing this condition; furthermore, a rare case of ED occurred after surgery.


Pheochromocytoma 18F-FDG PET-TC MIBG scintigraphy Erectile dysfunction 


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


  1. 1.
    Eisenhofer G, Pacak K, Maher ER et al (2013) Pheochromocytoma. Clin Chem 59:466–472CrossRefPubMedGoogle Scholar
  2. 2.
    Fliedner SMJ, Lehnert H, Pacak K (2010) Metastatic paraganglioma. Semin Oncol 37:627–637CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Van Berkel A, Lenders JWM, Timmers HJLM (2014) Diagnosis of endocrine disease: biochemical diagnosis of phaeochromocytoma and paraganglioma. Eur J Endocrinol 170:R109–R119CrossRefPubMedGoogle Scholar
  4. 4.
    Nieman LK, Biller BMK, Findling JW et al (2008) The diagnosis of Cushing’s syndrome: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 93:1526–1540CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Pacak K, Eisenhofer G, Ahlman H, et al, 2005 Pheochromocytoma: recommendations for clinical practice from the First International Symposium. October Nat Clin Pract Endocrinol Metab 2007; 3:92–102Google Scholar
  6. 6.
    Lenders JWM, Pacak K, Walther MM et al (2002) Biochemical diagnosis of pheochromocytoma: which test is best? JAMA 287:1427–1434CrossRefPubMedGoogle Scholar
  7. 7.
    Lodish M (2013) Multiple endocrine neoplasia type 2. Front Horm Res 41:16–29CrossRefPubMedGoogle Scholar
  8. 8.
    Erickson D, Kudva YC, Ebersold MJ et al (2001) Benign paragangliomas: clinical presentation and treatment outcomes in 236 patients. J Clin Endocrinol Metab 86:5210–5216CrossRefPubMedGoogle Scholar
  9. 9.
    Ilias I, Yu J, Carrasquillo JA et al (2003) Superiority of 6-[18F]-fluorodopamine positron emission tomography versus [131I]-metaiodobenzylguanidine scintigraphy in the localization of metastatic pheochromocytoma. J Clin Endocrinol Metab 88:4083–4087CrossRefPubMedGoogle Scholar
  10. 10.
    Fonte JS, Robles JF, Chen CC et al (2012) False-negative 123I-MIBG SPECT is most commonly found in SDHB-related pheochromocytoma or paraganglioma with high frequency to develop metastatic disease. Endocr Relat Cancer 19:83–93CrossRefPubMedPubMedCentralGoogle Scholar
  11. 11.
    Timmers HJLM, Kozupa A, Chen CC et al (2007) Superiority of fluorodeoxyglucose positron emission tomography to other functional imaging techniques in the evaluation of metastatic SDHB-associated pheochromocytoma and paraganglioma. J Clin Oncol 25:2262–2269CrossRefPubMedGoogle Scholar
  12. 12.
    Kinahan PE, Fletcher JW (2010) Positron emission tomography-computed tomography standardized uptake values in clinical practice and assessing response to therapy. Semin Ultrasound CT MR 31:496–505CrossRefPubMedPubMedCentralGoogle Scholar
  13. 13.
    Kimura N, Watanabe T, Noshiro T (2005) Histological grading of adrenal and extra-adrenal pheochromocytomas and relationship to prognosis: a clinicopathological analysis of 116 adrenal pheochromocytomas and 30 extra-adrenal sympathetic paragangliomas including 38 malignant tumors. Endocr Pathol 16:23–32CrossRefPubMedGoogle Scholar
  14. 14.
    Thompson LDR (2002) Pheochromocytoma of the adrenal gland scaled score (PASS) to separate benign from malignant neoplasms: a clinicopathologic and immunophenotypic study of 100 cases. Am J Surg Pathol 26:551–566CrossRefPubMedGoogle Scholar
  15. 15.
    Lindor NM, Greene MH (1998) The concise handbook of family cancer syndromes. Mayo Familial Cancer Program J Natl Cancer Inst 90:1039–1071CrossRefPubMedGoogle Scholar
  16. 16.
    Lenders JWM, Eisenhofer G, Mannelli M et al Phaeochromocytoma. Lancet nd 366:665–675Google Scholar
  17. 17.
    Heinemann LA, Saad F, Zimmermann T, Novak A, Myon E, Badia X, Potthoff P, T’Sjoen G, Pöllänen P, Goncharow NP, Kim S, Giroudet C (2003) The Aging Males’ Symptoms (AMS) scale: update and compilation of international versions. Health Qual Life Outcomes 1(1):15CrossRefPubMedPubMedCentralGoogle Scholar
  18. 18.
    Yafi FA, Jenkins L, Albersen M, Corona G, Isidori AM, Goldfarb S, Maggi M, Nelson CJ, Parish S, Salonia A, Tan R, Mulhall JP, Hellstrom WJ (2016) Erectile dysfunction. Nat Rev Dis Primers 2:16003CrossRefPubMedPubMedCentralGoogle Scholar
  19. 19.
    Defeudis G, Gianfrilli D, Di Emidio C, Pofi R, Tuccinardi D, Palermo A, Lenzi A, Pozzilli P. 2015 Erectile dysfunction and its management in patients with diabetes mellitus. Rev Endocr Metab Disord;Google Scholar
  20. 20.
    D’Elia AV, Grimaldi F, Pizzolitto S et al (2013) A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma. Clin Endocrinol 78:391–397CrossRefGoogle Scholar
  21. 21.
    Szolar DH, Korobkin M, Reittner P et al (2005) Adrenocortical carcinomas and adrenal pheochromocytomas: mass and enhancement loss evaluation at delayed contrast-enhanced CT. Radiology 234:479–485CrossRefPubMedGoogle Scholar
  22. 22.
    Groussin L, Bonardel G, Silvéra S et al (2009) 18F-Fluorodeoxyglucose positron emission tomography for the diagnosis of adrenocortical tumors: a prospective study in 77 operated patients. J Clin Endocrinol Metab 94:1713–1722CrossRefPubMedGoogle Scholar
  23. 23.
    van den Berge K, van Guldener C, van Wijngaarden P (2007) Erectile dysfunction as the presenting symptom of a pheochromocytoma. Eur J Intern Med Dec 18(8):593–594CrossRefGoogle Scholar
  24. 24.
    Lafont M, Fagour C, Haissaguerre M et al (2015) Per-operative hemodynamic instability in normotensive patients with incidentally discovered pheochromocytomas. J Clin Endocrinol Metab 100:417–421CrossRefPubMedGoogle Scholar

Copyright information

© Hellenic Endocrine Society 2018

Authors and Affiliations

  • Giuseppe Defeudis
    • 1
    • 2
    Email author
  • Elvira Fioriti
    • 1
  • Andrea Palermo
    • 1
  • Dario Tuccinardi
    • 1
  • Angelo Minucci
    • 3
  • Ettore Capoluongo
    • 3
  • Paolo Pozzilli
    • 1
  • Silvia Manfrini
    • 1
  1. 1.Unit of Endocrinology and Diabetes, Department of MedicineUniversity Campus Bio-Medico di RomaRomeItaly
  2. 2.Department of Experimental MedicineSapienza University of RomeRomeItaly
  3. 3.Institute of Biochemistry and Clinical Biochemistry, Department of Laboratory Medicine, “Policlinico Gemelli” FoundationCatholic University of the Sacred HeartRomeItaly

Personalised recommendations