Prague Med. Rep. 2025, 126, 151-154

https://doi.org/10.14712/23362936.2025.23

Glucocorticoid Remediable Aldosteronism in a Family with a Strong History of Cerebral Aneurysms and Hypertension

Jan Zeman1,2ID, Crystal Kamilaris3ID

1Department of Medicine, University of Connecticut, Farmington, Connecticut, USA
2Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
3Department of Endocrinology, NIH, Maryland, USA

Received November 26, 2024
Accepted August 27, 2025

Glucocorticoid remediable aldosteronism (GRA) also known as familial hyperaldosteronism type 1 (FH1) is a rare genetic form of primary aldosteronism characterized by aldosterone overproduction regulated by adrenocorticotropic hormone (ACTH). We present the case of a 54-year-old woman with severe hypertension and hypokalemia. Genetic testing confirmed GRA by identifying a chimeric gene involving CYP11B1 and CYP11B2. This case highlights the importance of considering GRA in patients with resistant hypertension and a family history of cerebral aneurysms. Management involved glucocorticoid therapy and mineralocorticoid receptor antagonists, leading to significant improvement in blood pressure control.

References

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