REVIEW article
Front. Endocrinol.
Sec. Adrenal Endocrinology
This article is part of the Research TopicAdvanced Genomic Techniques for Congenital Adrenal HyperplasiaView all articles
Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia
Provisionally accepted
- 1The University of Sydney, Sydney, Australia
- 2Karolinska Institutet (KI), Solna, Sweden
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Despite life-saving glucocorticoids, therapeutic options for congenital adrenal hyperplasia (CAH) remain sub-optimal. Adrenal crisis continues to be the highest cause of mortality in individuals with CAH and even with recommended treatment regimens complications from the disease and treatments themselves persist. These patients have limited treatment options and advanced therapeutics could be a solution. Development of genetic therapies have exponentially increased in recent years. The advent of CRISPR/Cas technology has brought previously inconceivable treatment options to reality. Genomic editing could repair the defective 21-hydroxylase gene and provide a cure for 21-hydroxylase deficiency, the most common CAH variant, eliminating the current need for constant patient intervention. There are a number of technologies within reach for CAH, however, delivery of the genomic editing reagents to the elusive adrenocortical progenitor cells remains challenging. Here we discuss the complexity of CAH genetics, which has implications for choice of genomic editing strategy, and potential future strategies for the development of a cure of CAH.
Keywords: 21-hydroxylase deficiency, Genomic editing, CRiSPR/Cas, aav, gene editing
Received: 06 Oct 2025; Accepted: 24 Nov 2025.
Copyright: © 2025 Graves, Christina, Mullany, Alexander and Falhammar. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Henrik Falhammar, henrik.falhammar@ki.se
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