Adrenal Nodularity and Somatic Mutations in Primary Aldosteronism: One Node Is the Culprit?

Pregnancy, Primary Aldosteronism, and Adrenal CTNNB1 Mutations.

Recent discoveries of somatic mutations permit the recognition of subtypes of aldosterone-producing adenomas with distinct clinical presentations and pathological features. Here we describe three women with hyperaldosteronism, two who presented in pregnancy and one who presented after menopause. Their aldosterone-producing adenomas harbored activating mutations of CTNNB1, encoding β-catenin in ...

Several Types of Somatic Mutations Induce Autonomous Production of Aldosterone in Primary Aldosteronism

We detected a low CYP17/HSD3B2 ratio in APA tissue, indicating that the cortisol pathway is suppressed in APA and also observed a high CYP11B2/CYP11B1 ratio in APA tissue, suggesting that the aldosterone pathway is accelerated in APA [8]. Furthermore, we reported that there were no KCNJ5 gene mutations in the normal tissue adhering to KCNJ5 gene mutationharboring APA, suggesting that somatic mu...

Clinical Management and Outcomes of Adrenal Hemorrhage Following Adrenal Vein Sampling in Primary Aldosteronism.

Aldosterone-producing adenoma and bilateral adrenal hyperplasia account for >90% of all primary aldosteronism cases. Distinguishing between bilateral and unilateral disease is of fundamental importance because it allows targeted therapy. Adrenal vein sampling (AVS) is the only reliable means to preoperatively differentiate between unilateral and bilateral subtypes. A rare but serious complicati...

Adrenal histopathology in primary aldosteronism: is it time for a change?

Somatic KCNJ5 mutation occurring early in adrenal development may cause a novel form of juvenile primary aldosteronism

We report a case of non-familial juvenile primary aldosteronism (PA). Super-selective adrenal venous sampling identified less aldosterone production in the right inferior adrenal segment than others. Bilateral adrenalectomy sparing the segment normalized blood pressure and improved PA. Both adrenals had similar histologies, consisting of a normal adrenal cortex and aldosterone synthase-positive...