Endocrine Abstracts

Background: Phaeochromocytomas are rare neuroendocrine tumours, and diagnosis can often be delayed due to their non-specific and varied clinical presentation.

Clinical Case: 57 year old lady with a background of hypertension and hypothyroidism presented with palpitations and sweating, with nausea in the mornings since 6 years ago. She visited her GP last year and was found to have elevated BP up to 240/78 mmHg, heart rate of 145 bpm, despite being on anti-hypertensives. Ultrasound showed benign nodules throughout the thyroid and a right supraclavicular mass, histology from ultrasound-guided biopsy showed no evidence of neoplasia. CT TAP showed a large right axillary node measuring 7.73 cm, and a lesion measuring 5.5 cm in the left upper quadrant of the abdomen, which displaced the left kidney. MRI Adrenals confirmed a stable indeterminate left adrenal nodule. MRI of Cervical Spine showed right C6-7 foraminal neurogenic tumour extending along the C7 nerve, felt to represent nerve sheath tumours in her neck and axilla. 24-h urinary Metadrenalines were elevated at >13 μmol/24h, with 24-h urine Normetadrenaline output of 52.49 μmol/24h, 24-h urine 3-Methoxytyramine output of 4.99 μmol/24h. During clinic review, she reported that her father had multiple cutaneous lumps. On examination, she appeared cachexic, and cutaneous lumps were seen over her arms and back. Overnight dexamethasone suppression test was normal. A provisional diagnosis of type 1 neurofibromatosis and phaeochromocytoma was made. She was started on phenoxybenzamine 10mg BD for 12 weeks, which improved her blood pressure to 114/70. 68Ga-DOTATATE PET scan showed soft tissue density mass in the left adrenal with moderate heterogenous DOTATATE avidity and neurofibromas, differentials include phaeochromocytoma or paraganglioma. She was referred to the endocrine surgeons for left adrenalectomy.

Conclusion: This case highlights the importance of history-taking and clinical examination in detecting this uncommon condition.