ECE2024 Eposter Presentations Adrenal and Cardiovascular Endocrinology (155 abstracts)
Neurofibromatosis type 1: rare cause of pheochromocytoma - a report of 2 cases
Karimi Meryem 1 , Hajar Azagouagh 1 , Mustapha Asfour 2 , Rifai Kaoutar 1 , Iraqi Hind 1 & Mohamed Elhassan Gharbi 1
1ibn Sina rabat, Endocrinology, Morocco; 2Hôpital militaire d’instruction Mohammed V, Endocrinology, Morocco
Introduction: Neurofibromatosis type 1 is a multi-organ genetic disease, commonly occurring with variable severity. Pheochromocytoma is a rare manifestation in NF1, affecting 1-15% of NF1 patients according to studies.
Case Report: We present 2 cases: - Patient 1: 28 years old, with personal history of café au lait spots, cutaneous and subcutaneous neurofibromas, axillary lentigines. Referred for endocrinology consultation due to an adrenal mass discovered during an ultrasound for abdominal pain. Further CT scan revealed right adrenal masses measuring 25*22mm and 39*34mm, with estimated absolute washout of 62% and 37%. Elevated methoxylated derivatives in hormonal assessment. The patient underwent laparoscopic surgery. - Patient 2: 26 years old, with similar personal history. Discovered through a similar presentation as the first patient, adrenal CT scan revealed a tissue mass measuring 50*57*40mm, with tissue density of 49ui. Elevated methoxylated derivatives in hormonal assessment. The patient underwent laparoscopic surgery.
Discussion and Conclusion: In NF1, 80% of pheochromocytomas are asymptomatic, with over half being non-secreting. When secretory, they are often asymptomatic but can become symptomatic acutely, especially during surgical procedures. These findings underscore the importance of screening for pheochromocytoma in the NF1 population around the age of 35 to 40.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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