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Hormones

, 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 Defeudis
  • Elvira Fioriti
  • Andrea Palermo
  • Dario Tuccinardi
  • Angelo Minucci
  • Ettore Capoluongo
  • Paolo Pozzilli
  • Silvia Manfrini
Case Report

Abstract

Background

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.

Conclusions

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.

Keywords

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

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Hellenic Endocrine Society 2018

Authors and Affiliations

  • Giuseppe Defeudis
    • 1
    • 2
  • 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

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