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Article

Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1.

Proceedings of the National Academy of Sciences of the United States of America - 8 Mar 2011

Lawson Alexander J, Walker Elizabeth A, Lavery Gareth G, Bujalska Iwona J, Hughes Beverly, Arlt Wiebke, Stewart Paul M, Ride Jonathan P

Abstract excerpt

In peripheral target tissues, levels of active glucocorticoid hormones are controlled by 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), a dimeric enzyme that catalyzes the reduction of cortisone to cortisol within the endoplasmic reticulum. Loss of this activity results in a disorder termed cortisone reductase deficiency (CRD), typified by increased cortisol clearance and androgen excess. To date, only...

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PMID: 21325058
DOI: 10.1073/pnas.1014934108
PMCID: PMC3054023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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