The discovery of adrenal lesions during routine testing for hypertension requires focused consideration for adrenal overproduction of cortisol, aldosterone or metanephrines. An otherwise healthy 25-year-old woman presented with headaches, diaphoresis and hot flushes with grossly elevated urine catecholamines, normetanephrines and norepinephrine levels, yet normal metanephrines, epinephrine/epinephrine, cortisol and aldosterone levels. Subsequent functional uptake studies and scans identified bilateral adrenal adenomas consistent with phaeochromocytomas. There was no family history of phaeochromocytomas or familial syndromes; however, a targeted genetic analysis for causes of familial phaeochromocytomas identified a heterozygous germline mutation in the VHL gene consistent with Von Hippel-Lindau syndrome. In this case, the identification of the VHL mutation led to careful screening and detection of clinically occult central nervous system hemangioblastomas and pancreatic neuroendocrine tumours. Verified genetic mutations facilitated best practices for long-term surveillance protocols, preconception counselling and screening of blood relatives. The patient responded well to surgical treatment and has ongoing multidisciplinary long-term surveillance.
- adrenal disorders
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Contributors GAS performed the literature review and wrote the first draft of the manuscript. TA is the patient’s current physician who obtained patient consent, supervised all aspects of this report and edited the final manuscript. TA is the corresponding author and guarantor of this manuscript and takes responsibility for the integrity of the data and the accuracy of the reporting.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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