AUTHOR=Gomez-Sanchez Celso E. , van Rooyen Desmaré , Rainey William E. , Nanba Kazutaka , Blinder Amy R. , Baliga Radhakrishna 

TITLE=Primary aldosteronism caused by a pI157S somatic KCNJ5 mutation in a black adolescent female with aldosterone-producing adenoma

JOURNAL=Frontiers in Endocrinology

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2022.921449

DOI=10.3389/fendo.2022.921449

ISSN=1664-2392

ABSTRACT=<p>Aldosterone-producing adenoma is a rare cause of hypertension in children. Only a limited number of cases of aldosterone-producing adenomas with somatic <italic>KCNJ5</italic> gene mutations have been described in children. Blacks are particularly more susceptible to developing long-standing cardiovascular effects of aldosterone-induced severe hypertension. Somatic <italic>CACNA1D</italic> gene mutations are particularly more prevalent in black males whereas <italic>KCNJ5</italic> gene mutations are most frequently present in black females. We present here a novel somatic <italic>KCNJ5</italic> p.I157S mutation in an aldosterone-producing adenoma from a 16-year-old black female whose severe drug-resistant hypertension significantly improved following unilateral adrenalectomy. Prompt diagnosis of aldosterone-producing adenoma and early identification of gene mutation would enable appropriate therapy and significantly reduce cardiovascular sequelae.</p>