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Endocrine Abstracts (2017) 49 EP89 | DOI: 10.1530/endoabs.49.EP89

ECE2017 Eposter Presentations: Adrenal and Neuroendocrine Tumours Adrenal medulla (21 abstracts)

Should all patients with Neurofibromatosis type 1 undergo biochemical screening for Pheocromocytoma?

Ahmed Al-Sharefi , Suhel Ashraff , Ramesh Vanka & Satyajit Nag


Department of Diabetes and Endocrinology, The James Cook Univeristy Hospital, Middelsbrough, UK.


Pheocromocytomas (PHEO) are catecholamine secreting tumours which can occur sporadically or as part of other hereditary/familial syndromes including Neurofibromotosis 1 (NF-1). Unlike the case with other genetic syndromes, the current neurofibromatosis guidelines do not recommend a routine hormonal screening strategy for PHEO in the absence of hypertension or other symptoms. In this paper we describe 2 asymptomatic and normotensive patients with NF-1 where secretory PHEO were incidentally diagnosed. The first patient is 61- year old female with a history of NF-1 who received a diagnosis of takotsubo cardiomyopathy and was found to have an incidental adrenal mass of 2.4 cm where subsequent investigations confirmed a diagnosis of secretory PHEO.The second patient is a 44 - year old female with also a background of NF-1 who was found to have a 7.8 × 7.0 × 5.8 cm adrenal adenoma where further work up confirmed PHEO. Both patients underwent adrenalectomy and the histology confirmed the diagnosis and their catecholamines level normalised eventually. Undiagnosed PHEO will put patients at unnecessary risk from having an adrenergic crisis and even death. These cases highlight the importance of considering routine biochemical screening for a catecholamine secreting tumour in all patients with NF-1 to prevent the development of catastrophic events in the future.

Volume 49

19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

European Society of Endocrinology 

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