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Cited by 272Hormonal Regulation and HypertensionAdrenal Hormones and DisordersSexual Differentiation and Disorders

Disorders of Steroid 11β-Hydroxylase Isozymes*

WHITE, PERRIN C., CURNOW, KATHLEEN M., PASCOE, LEIGH·1994·Endocrine Reviews
DOI 10.1210/edrv-15-4-421
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Abstract

The most active corticosteroids are 11 beta-hydroxylated. Humans have two isozymes with 11 beta-hydroxylase activity that are respectively required for cortisol and aldosterone synthesis. CYP11B1 (11 beta-hydroxylase) is expressed at high levels and is regulated by ACTH, whereas CYP11B2 (aldosterone synthase) is normally expressed at low levels and is regulated by angiotensin II. In addition to 11 beta-hydroxylase activity, the latter enzyme has 18-hydroxylase and 18-oxidase activities and thus can synthesize aldosterone from deoxycorticosterone. Insights into the normal functioning of these enzymes are gained from studies of disorders involving them. Mutations in the CYP11B1 gene cause steroid 11 beta-hydroxylase deficiency, a form of congenital adrenal hyperplasia characterized by signs of androgen excess and by hypertension. Mutations in CYP11B2 result in aldosterone synthase (corticosterone methyloxidase) deficiency, an isolated defect in aldosterone biosynthesis that can cause hyponatremia, hyperkalemia, and hypovolemic shock in infancy and failure to thrive in childhood. These are both recessive disorders. Unequal crossing over between the CYP11B genes can generate a duplicated chimeric gene with the transcriptional regulatory region of CYP11B1 but sufficient coding sequences from CYP11B2 so that the encoded enzyme has aldosterone synthase (i.e. 18-oxidase) activity. This results in aldosterone biosynthesis being regulated by ACTH, a condition termed glucocorticoid-suppressible hyperaldosteronism. This form of genetic hypertension is inherited in an autosomal dominant manner.

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  • Mutations in CYP11B1 cause 11β-hydroxylase deficiency isolated to the zonae fasciculata and reticularis, whereas defects in CYP11B2 cause both CMOI or CMOII deficiencies.

    “Mutations in CYP11B1 cause 11␤-hydroxylase deficiency isolated to the zonae fasciculata and reticularis (463), whereas defects in CYP11B2 cause both CMOI or CMOII deficiencies (447).”

    From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [447]

  • The final steps in the synthesis of glucocorticoids and mineralocorticoids are catalyzed by two closely related mitochondrial enzymes, P450c11β and P450c11AS.

    “The final steps in the synthesis of glucocorticoids and mineralocorticoids are catalyzed by two closely related mitochondrial enzymes, P450c11␤ and P450c11AS (447, 448).”

    From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [447]

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Authors
WHITE, P. C., CURNOW, K. M., & PASCOE, L.
Affiliations
Cornell University (US)
Corresponding author
WHITE, PERRIN C.
ORCID
WHITE, PERRIN C.
Venue
Endocrine Reviews
Publisher
The Endocrine Society
Published
1994-08
Volume
15
Issue
4
Pages
421-438
ISSN
  • 0163-769X (ISSN-L)
  • 1945-7189
DOI
10.1210/edrv-15-4-421
OpenAlex
W2140170947
Cited by
271
References
0
Citations by year
2026: 2 · 2025: 2 · 2024: 4 · 2023: 2 · 2022: 2 · 2021: 9 · 2020: 2 · 2019: 5 · 2018: 7 · 2017: 5 · 2016: 7 · 2015: 14 · 2014: 8 · 2013: 14 · 2012: 10
FWCI
6.85
Type
journal article
Language
en
Open access
closed
Locations
  • Endocrine Reviews (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health (5r01dk042169-12)
  • National Institute of Diabetes and Digestive and Kidney Diseases (DK-37867, DK42169)
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Keywords
steroid 11beta-hydroxylase, CYP11B1, CYP11B2, aldosterone synthase, congenital adrenal hyperplasia, aldosterone synthase deficiency, 18-hydroxylase, ACTH regulation, angiotensin II, genetic hypertension, fusion genes, hyponatremia, hyperandrogenism
MeSH terms
Adrenal Cortex, Adrenal Hyperplasia, Congenital, Aldosterone, Cytochrome P-450 Enzyme System, Female, Humans, Hydrocortisone, Hyperaldosteronism, Isoenzymes, Male, Mutation, Steroid 11-beta-Hydroxylase, Cytochrome P-450 CYP11B2

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