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Pathogenic MAX Variant in Bilateral Adrenal Paragangliomas: The Dilemma of Cortical-Sparing Surgery
Henrique Carmona Alexandrino1, Andreia Martins Fernandes2, Ricardo Godinho3
1Endocrinology, Unidade Local de Saúde Gaia-Espinho, Vila Nova de Gaia, PRT.
Abstract:
We describe the case of a woman in her late 30s presenting with signs and symptoms of catecholamine excess and asymmetric bilateral adrenal lesions. Initial genetic testing was negative, including analysis of RET, VHL, SDH genes, TMEM127, and MAX. She underwent right cortical-sparing adrenalectomy, which normalized biochemical markers and blood pressure. One year later, she developed recurrent catecholamine excess, and repeat genetic analysis identified a germline pathogenic variant in MAX. Functional imaging confirmed a contralateral adrenal lesion, raising considerations regarding oncological safety versus adrenal preservation. This case highlights the complexity of hereditary pheochromocytoma/paraganglioma syndromes and illustrates how evolving genetic testing can influence surgical decision-making.
Insights
A patient with catecholamine excess and adrenal lesions had negative initial genetic tests. Later, a MAX gene variant was found, impacting surgical decisions for adrenal preservation versus oncological safety.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Pheochromocytomas and paragangliomas are rare tumors often linked to hereditary syndromes.
- Catecholamine excess presents with significant cardiovascular and metabolic challenges.
- Advances in genetic testing are crucial for diagnosing and managing these conditions.
