ArticleJournal of the ASEAN Federation of Endocrine Societies2025
Bilateral Pheochromocytoma with a Novel Pathogenic Variant in the MAX gene: A Case Report.
Article in Journal of the ASEAN Federation of Endocrine Societies, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Pheochromocytomas and paragangliomas syndrome are grouped into three specific disease clusters based on their underlying genetic alterations. Pathogenic variants affecting the myelocytomatosis-associated factor X (MAX) gene predispose pheochromocytomas and paragangliomas syndrome to occur at younger ages, with more than half having bilateral pheochromocytomas. We report a case of bilateral pheochromocytomas with a novel pathogenic variant identified in the MAX gene (c.234_235dup). This young male was found to have a huge left suprarenal mass after he presented with severe hypertension and myocardial infarction. His endocrine workup confirmed a diagnosis of pheochromocytoma as evidenced by elevated levels of normetanephrine, metanephrine, and 3-methoxytyramine in the urine. CT of the adrenal glands revealed bilateral adrenal masses; the widest diameter for the left adrenal mass was almost 8 cm whereas for the right one was 2 cm.
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