Primary
aldosteronism (PA) is the leading cause of secondary
hypertension. The source of
aldosterone hypersecretion is often due to a unilateral
aldosterone-producing
adenoma, and unilateral laparoscopic
adrenalectomy is recommended in such patients. Before surgery, confirmation of unilateral hypersecretion is necessary. This is optimally performed by adrenal venous sampling (AVS). However, AVS is not always successful e.g., due to difficulties in the cannulation of the right adrenal vein. Here we present the case of a 53-year-old female patient with primary
aldosteronism, a left-sided adrenal mass and an inconspicuous right adrenal. AVS was performed, but cannulation of the right adrenal vein failed. Therefore,
aldosterone hypersecretion also of the right adrenal could not be excluded despite higher
aldosterone concentrations in the left renal and adrenal vein. To increase the certainty that the left sided adrenal mass was the source of
aldosterone hypersecretion,
steroid profiling was performed in a sample from the inferior vena cava. This revealed markedly elevated levels of
18-oxocortisol,
18-hydroxycortisol, 11-deoxycorticosterone, and
11-deoxycortisol, a
steroid profile that strongly suggested that the left sided adrenal mass was an
aldosterone producing
adenoma, most likely due to a somatic KCNJ5 mutation. Following unilateral
adrenalectomy,
CYP11B2 immunohistochemistry, and genetics analysis of the resected adrenal confirmed a solitary
aldosterone-producing
adenoma with intense
aldosterone synthase expression, which harbored a previously described KCNJ5 Phe154Cys mutation. Biochemical and clinical cure was confirmed 6 months postoperatively.