Double somatic mutations in <i>CTNNB1</i> and <i>GNA11</i> in an aldosterone-producing adenoma.

ABSTRACT: Double somatic mutations in CTNNB1 and GNA11/Q have recently been identified in a small subset of aldosterone-producing adenomas (APAs). As a possible pathogenesis of APA due to these mutations, an association with pregnancy, menopause, or puberty has been proposed. However, because of its rarity, characteristics of APA with these mutations have not been well characterized. A 46-year-old Japanese woman presented with hypertension and hypokalemia. She had two pregnancies in the past but had no history of pregnancy-induced hypertension. She had regular menstrual cycle at presentation and was diagnosed as having primary aldosteronism after endocrinologic examinations. Computed tomography revealed a 2 cm right adrenal mass. Adrenal venous sampling demonstrated excess aldosterone

SUBMITTER: Nanba K 

PROVIDER: S-EPMC10948454 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature