Abstract
Aldosterone synthase deficiency is an inborn error of metabolism that selectively impairs renal retention of salt and fluid. Clinically the disorder can present with a salt-losing crisis in infancy. Patients surviving this period may be asymptomatic in adulthood. Aldosterone synthase deficiency is inherited as an autosomal recessive trait due to loss of function mutations in CYP11B2, and it is extremely rare. The characteristic biochemical features are hyperreninaemic hypoaldosteronism. It is possible to make the diagnosis of this disorder using a urine steroid profile taken during a salt-losing episode.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Further Reading
Bassett MH, White PC, Rainey WE. The regulation of aldosterone synthase expression. Mol Cell Endocrinol. 2004;217:67–74.
White PC. Aldosterone synthase deficiency and related disorders. Mol Cell Endocrinol. 2004;217:81–7.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer International Publishing AG, part of Springer Nature
About this chapter
Cite this chapter
Clifford-Mobley, O. (2019). Aldosterone Synthase Deficiency. In: Rumsby, G., Woodward, G. (eds) Disorders of Steroidogenesis. Springer, Cham. https://doi.org/10.1007/978-3-319-96364-8_9
Download citation
DOI: https://doi.org/10.1007/978-3-319-96364-8_9
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-96363-1
Online ISBN: 978-3-319-96364-8
eBook Packages: MedicineMedicine (R0)