The DOI matches its Crossref record; 48 of the 49 references it cites were found in a registry or an index.
Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency
Open accessAbstract
CYP17A1 catalyzes the 17-hydroxylase and 17,20-lyase reactions, regulating the steroid hormones produced by the adrenal glands and gonads. Mutations that compromise all CYP17A1 activities are extremely rare and cause combined 17-hydroxylase/17,20-lyase deficiency. Clinically, combined 17-hydroxylase/17,20-lyase deficiency presents with hypertension, hypokalemia, primary amenorrhea, and sexual infantilism. A few mutations selectively impair 17,20-lyase activity, and some mutations in cofactor proteins cytochrome P450-oxidoreductase and cytochrome b5 also selectively disrupt 17,20-lyase activity. The defect in sex steroid synthesis impairs fertility in both male and female patients when the deficiency is severe. This paper reviews the genetics, steroidogenesis, and fertility impairments associated with these disorders.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Citations
Cites
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458
Self-citationCytochrome b 5 Augments the 17,20-Lyase Activity of Human P450c17 without Direct Electron Transfer
Auchus, R. J., Lee, T. C., & Miller, W. L. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.6.3158 · Cited by 541
Self-citationMcNATTY, K. P., SMITH, D. M., MAKRIS, A., OSATHANONDH, R., & RYAN, K. J. (1979) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-49-6-851 · Cited by 522
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
Flück, C. E., Tajima, T., Pandey, A. V., Arlt, W., Okuhara, K., Verge, C. F., Jabs, E. W., Mendonça, B. B., Fujieda, K., & Miller, W. L. (2004) · Nature Genetics · doi:10.1038/ng1300 · Cited by 509
Chung, B. C., Picado-Leonard, J., Haniu, M., Bienkowski, M., Hall, P. F., Shively, J. E., & Miller, W. L. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.2.407 · Cited by 444
PICADO-LEONARD, J., & MILLER, W. L. (1987) · DNA · doi:10.1089/dna.1987.6.439 · Cited by 415
Expression of Bovine 17α-Hydroxylase Cytochrome P-450 cDNA in Nonsteroidogenic (COS 1) Cells
Zuber, M. X., Simpson, E. R., & Waterman, M. R. (1986) · Science · doi:10.1126/science.3535074 · Cited by 388
Arlt, W., Walker, E. A., Draper, N., Ivison, H. E., Ride, J. P., Hammer, F., Chalder, S. M., Borucka-Mankiewicz, M., Hauffa, B. P., Malunowicz, E. M., et al. (2004) · The Lancet · doi:10.1016/s0140-6736(04)16503-3 · Cited by 345
Minireview: Regulation of Steroidogenesis by Electron Transfer
Miller, W. L. (2005) · Endocrinology · doi:10.1210/en.2005-0096 · Cited by 324
The genetic and functional basis of isolated 17,20 lyase deficiency
Geller, D. H., Auchus, R. J., Mendonça, B. B., & Miller, W. L. (1997) · Nature Genetics · doi:10.1038/ng1097-201 · Cited by 318
Self-citation
Cited by
Sorted by citations
Items 101–103 of 103
Chong, H., Fu, Y., Zhang, X., Zhang, Y., Yan, X., & Pi, Y. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1824733
Liu, Y., Cai, S., Zhang, T., Sun, S., Kong, X., Zhou, J., Chen, B., & Li, Z. (2026) · Endocrine · doi:10.1007/s12020-026-04767-5
Cao, Y., Lü, L., Li, M., Tong, A., Chen, S., Zhang, W., Guo, C., Wang, C., Wang, X., Mao, J., et al. (2026) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgag363
Metadata
- Authors
- Marsh, C. A., & Auchus, R. J.
- Affiliations
- University of Kansas (US)
- University of Michigan (US)
- Corresponding author
- Auchus, Richard J.
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 2014-02
- Volume
- 101
- Issue
- 2
- Pages
- 317-322
- ISSN
- 0015-0282 (ISSN-L)
- OpenAlex
- W2118209240
- Cited by
- 103
- References
- 49
- Citations by year
- 2026: 7 · 2025: 6 · 2024: 8 · 2023: 13 · 2022: 14 · 2021: 11 · 2020: 4 · 2019: 8 · 2018: 8 · 2017: 5 · 2016: 9 · 2015: 6 · 2014: 3
- FWCI
- 0.72
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/legal/tdmrep-license (tdm)
- www.elsevier.com/open-access/userlicense/1.0/ (vor, 3037 d)
- doi.org/10.15223/policy-017 (stm-asf)
- doi.org/10.15223/policy-037 (stm-asf)
- doi.org/10.15223/policy-012 (stm-asf)
- doi.org/10.15223/policy-029 (stm-asf)
- doi.org/10.15223/policy-004 (stm-asf)
- Locations
- Fertility and Sterility (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- CYP17A1, fertility, steroidogenesis, P450c17, cytochrome P450 oxidoreductase, cytochrome b5, sex steroid synthesis, hypertension, hypokalemia, primary amenorrhea, sexual infantilism, genetic mutations
- MeSH terms
- Adrenal Hyperplasia, Congenital, Animals, Female, Fertility, Humans, Male, Steroid 17-alpha-Hydroxylase, Syndrome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
