A Woman with Bilateral Pheochromocytoma and Tuberous Sclerosis Complex.

Autor:	Zahid M; Section of Endocrinology, Diabetes and Metabolism, Department of Medicine, Baylor College of Medicine, Houston, Texas., Koshy S; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Houston Methodist Hospital, Houston, Texas., Shakil J; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Houston Methodist Hospital, Houston, Texas., Khadra HS; Department of Surgery, Houston Methodist Hospital, Houston, Texas., Truong LD; Department of Pathology, Houston Methodist Hospital, Houston, Texas., Sadhu AR; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Houston Methodist Hospital, Houston, Texas.
Jazyk:	angličtina
Zdroj:	AACE clinical case reports [AACE Clin Case Rep] 2023 Dec 08; Vol. 10 (2), pp. 41-44. Date of Electronic Publication: 2023 Dec 08 (Print Publication: 2024).
DOI:	10.1016/j.aace.2023.12.001
Abstrakt:	Background/objective: Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors. Here, we report an unusual case of synchronous PPGL in an asymptomatic patient with tuberous sclerosis complex (TSC). Case Report: A 49-year-old woman with a history of TSC and end-stage renal disease was referred for evaluation of bilateral adrenal and retroperitoneal masses. She denied chest pain, palpitations, headaches, or previous hypertensive crisis. The laboratory test results showed a plasma normetanephrine level of 20.20 nmol/L (normal range, 0.00-0.89 nmol/L) and plasma chromogranin A level Chromogranin A (CgA) levels of 1518 ng/mL (normal range, 0-103 ng/mL). The plasma metanephrine level was normal. After α-blockade, the patient underwent bilateral adrenalectomy and retroperitoneal mass excision. Pathology confirmed these lesions to be pheochromocytoma and composite paraganglioma/ganglioneuroma, respectively. Her plasma normetanephrine level normalized postoperatively, and the chromogranin A levels improved to 431 ng/mL. Discussion: Routine imaging has increased the incidental diagnosis of PPGL. Diagnostic workup includes measurement of the urinary and/or plasma metanephrine and catecholamine levels followed by tumor localization. Patients with young age, syndromic lesions, bilateral PPGL, or unilateral disease with a positive family history should have genetic testing. Definitive treatment is surgical after α-blockade. Conclusion: This case highlights a rare presentation of bilateral PPGL in a patient with TSC. Competing Interests: The authors have no conflicts of interest to disclose. (© 2023 AACE. Published by Elsevier Inc.)
Databáze:	MEDLINE
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