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Cited by 146Sexual Differentiation and DisordersHormonal Regulation and HypertensionAdrenal Hormones and Disorders

Disorders of steroid 17α-hydroxylase deficiency

Kater, Claudio E., Biglieri, Edward G.·1994·Endocrinology and Metabolism Clinics of North America
DOI 10.1016/s0889-8529(18)30101-4
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Abstract

The human P450c17 alpha gene (CYP17) is a single copy gene located in chromosome 10, consisting of 8 exons and 7 introns. 17 alpha-Hydroxylase/17,20-lyase deficiency is one of two hypertensive forms of congenital adrenal hyperplasia and is inherited as an autosomal recessive trait; although rare, it probably exists with twice the frequency of the 11 beta-hydroxylase deficiency. Deficient 17 alpha-hydroxylation of pregnenolone and progesterone and subsequent deficiency of the cleavage of the C-17,20 carbon bond result in the absence of sex hormone formation in both the adrenal glands and the gonads, causing hypogonadism and male pseudohermaphroditism. Elevated and glucocorticoid-suppressible levels of the ZF 17-deoxysteroids--DOC and corticosterone--as well as their 18-hydroxylated products--18-OHDOC and 18-OHB (in addition to 19-nor-DOC)--are responsible for hypertension, hypokalemia, and renin and aldosterone suppression. A few cases, reported primarily among Japanese families, have basal hyperaldosteronism, an enigmatic condition that still demands adequate explanation. Like other forms of congenital adrenal hyperplasia, treatment of 17 alpha-hydroxylase deficiency consists of replacement doses of glucocorticoid hormones and supplemental estrogen therapy in the young adult patient. Heterozygotes may be detected by slightly exaggerated responses of some or all the ZF 17-deoxysteroids to ACTH stimulation, and by the elevated ratio of total urinary metabolites of corticosterone to the total metabolites of cortisol.

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Crossref · 10.1016/s0889-8529(18)30101-4

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  • Patients with severe mutations in P450c17 cannot synthesize cortisol but instead increase corticosterone production, explaining why they are not glucocorticoid-deficient despite the lack of cortisol.

    “Patients with severe mutations in P450c17 cannot synthesize cortisol but instead increase corticosterone production (647) (as do rodent adrenals, which normally lack P450c17), explaining why they are not glucocorticoid-deficient, despite the lack of cortisol (Fig. 13).”

    From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [647]

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Authors
Kater, C. E., & Biglieri, E. G.
Affiliations
University of California, San Francisco (US)
Corresponding author
Kater, Claudio E.
ORCID
Kater, Claudio E.
Venue
Endocrinology and Metabolism Clinics of North America
Publisher
Elsevier BV
Published
1994-06
Volume
23
Issue
2
Pages
341-357
ISSN
0889-8529 (ISSN-L)
DOI
10.1016/s0889-8529(18)30101-4
OpenAlex
W4296153575
Cited by
146
References
55
Citations by year
2025: 6 · 2024: 6 · 2023: 8 · 2022: 7 · 2021: 5 · 2020: 5 · 2019: 5 · 2018: 5 · 2017: 4 · 2016: 4 · 2015: 5 · 2014: 6 · 2013: 5 · 2012: 4
FWCI
1.13
Type
journal article
Language
en
Open access
closed
Licence
Locations
Endocrinology and Metabolism Clinics of North America (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Keywords
17-hydroxylase deficiency, 17,20-lyase deficiency, congenital adrenal hyperplasia, mineralocorticoid hypertension, hypokalemia, hyperaldosteronism, hypogonadism, pseudohermaphroditism, renin suppression, aldosterone suppression

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