Key result
Unilateral adrenalectomy normalizes aldosterone, linking ARMC5 mutations to primary aldosteronism without hypercortisolism.
Why the study?
Does unilateral adrenalectomy improve primary aldosteronism in a patient with ARMC5-mutated bilateral macronodular adrenocortical disease?
Case Report (n=1)
Does unilateral adrenalectomy improve primary aldosteronism in a patient with ARMC5-mutated bilateral macronodular adrenocortical disease?
This case demonstrates that ARMC5 mutations can cause isolated mineralocorticoid excess without hypercortisolism, expanding the known phenotypic spectrum of bilateral macronodular adrenocortical disease.
May support unilateral adrenalectomy in select ARMC5 cases; leaves open whether this extends to broader primary aldosteronism populations.
Primary aldosteronism (PA) is a common cause of secondary hypertension. Bilateral macronodular adrenocortical disease (BMAD) with ARMC5 mutations is classically associated with hypercortisolism. This report describes a 54-year-old female with hypertension and hypokalemia, biochemically confirmed as PA, and imaging showing bilateral adrenal macronodules. Postoperative peripheral blood genetic testing identified a germline ARMC5 frameshift insertion (c.337dup). Whole-exome sequencing of the resected adrenal tissue revealed an additional somatic frameshift deletion (c.277_316del, p. P93fs, VAF 43.1%) absent in blood, demonstrating biallelic ARMC5 inactivation. Following unilateral adrenalectomy, the patient’s aldosterone levels normalized. This case shows that ARMC5 mutations can cause isolated mineralocorticoid excess without hypercortisolism, expanding the known phenotypic spectrum. Genetic testing for ARMC5 should be considered in patients with bilateral adrenal enlargement regardless of steroid hormone profile.
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Ren et al. (2026) conducted a case report in Bilateral macronodular adrenocortical disease with isolated primary aldosteronism (n=1). Unilateral adrenalectomy was evaluated on Normalization of aldosterone levels and aldosterone-to-renin ratio. Unilateral adrenalectomy normalized aldosterone levels in a patient with bilateral macronodular adrenocortical disease, demonstrating that ARMC5 mutations can cause isolated primary aldosteronism without hypercortisolism.
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