Cited by 144Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

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The Syndrome of 17,20 Lyase Deficiency

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Miller, Walter L.·2012·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jc.2011-2161PMC PMC3251937

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Abstract

CONTEXT: Disorders of steroidogenesis have been instrumental in delineating human steroidogenic pathways. Each genetic disorder seemed to correspond to a different steroidogenic activity, helping to identify several enzymes. Beginning in 1972, several patients have been reported as having "17,20 lyase deficiency," but there have been inconsistent genetic findings. OBJECTIVE: This manuscript reviews the biochemistry, genetics, and clinical disorders of 17,20 lyase activity, which converts 21-carbon precursors of glucocorticoids to 19-carbon precursors of sex steroids. FINDINGS: A single enzyme, cytochrome P450c17, catalyzes both 17α-hydroxylase activity and 17,20 lyase activity. The 17,20 lyase activity is especially sensitive to the activities of the accessory proteins P450 oxidoreductase and cytochrome b(5). The first cases of genetically and biochemically proven 17,20 lyase deficiency were reported in 1997, in which specific P450c17 mutations were identified that lost 17,20 lyase activity but not 17α-hydroxylase activity when assayed in vitro. Subsequent work identified other P450c17 mutations and mutations in the genes encoding P450 oxidoreductase and cytochrome b(5). Recently, the initially reported cases from 1972 were found to carry mutations in two aldo-keto reductases, AKR1C2 and AKR1C4. These AKR1C isozymes catalyze 3α-hydroxysteroid dehydrogenase activity in the so-called "backdoor pathway" by which the fetal testis produces dihydrotestosterone without the intermediacy of testosterone. CONCLUSIONS: 17,20 Lyase deficiency should be considered a syndrome with multiple causes, and not a single disease. Study of this very rare disorder has substantially advanced our understanding of the pathways, mechanisms, and control of androgen synthesis. Mutations in other, as-yet unidentified genes may also cause this phenotype.

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Authors: Miller, W. L.
Affiliations: University of California, San Francisco (US)
Corresponding author: Miller, Walter L.
ORCID: Miller, Walter L.
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 2012-01
Volume: 97
Issue: 1
Pages: 59-67
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/jc.2011-2161
PMC: PMC3251937
OpenAlex: W2001518235
Cited by: 143
References: 82
Citations by year: 2026: 5 · 2025: 9 · 2024: 24 · 2023: 5 · 2022: 5 · 2021: 10 · 2020: 10 · 2019: 13 · 2018: 5 · 2017: 9 · 2016: 6 · 2015: 13 · 2014: 15 · 2013: 10 · 2012: 3
FWCI: 0.81
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health
University of California, San Francisco
National Institute of Diabetes and Digestive and Kidney Diseases (DK-37922, R01DK037922)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords: 17,20-lyase deficiency, steroidogenesis disorders, P450c17, cytochrome P450 oxidoreductase, cytochrome b5, AKR1C2, AKR1C4, 3α-hydroxysteroid dehydrogenase, androgen production, dihydrotestosterone
MeSH terms: Adrenal Hyperplasia, Congenital, Humans, Hydroxysteroid Dehydrogenases, Models, Biological, Mutation, Oxidoreductases, Steroid 17-alpha-Hydroxylase, Syndrome, Cytochromes b5, 3-alpha-Hydroxysteroid Dehydrogenase (B-Specific)

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