Cited by 103Sexual Differentiation and DisordersAdrenal Hormones and DisordersOvarian function and disorders

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Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency

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Marsh, Courtney A., Auchus, Richard J.·2014·Fertility and Sterility

DOI 10.1016/j.fertnstert.2013.11.011

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Abstract

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.

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McNATTY, 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
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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
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Batatinha, J. A. P., Nishi, M. Y., Batista, R. L., Júnior, J. A. D. F., Sircili, M. H. P., Dénes, F. T., Mesia, M. J. C., Salvanini, L. D. S., Costa, E. M. F., Carvalho, F. M., et al. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1508792 · Cited by 5
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DeAngelis, A. M., Roy-O’Reilly, M. A., & Rodríguez, A. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-799961-6.00011-1 · Cited by 3
Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis
Zhang, Y., Zhang, X., Wang, Y., Hua, K., & Ding, J. (2018) · Gynecological Endocrinology · doi:10.1080/09513590.2017.1417981 · Cited by 3
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Chang, A. Y., & Auchus, R. J. (2019) · Elsevier eBooks · doi:10.1016/b978-0-323-47912-7.00024-x · Cited by 4
Self-citation
[Successful assisted reproductive technology treatment for a woman with 46XX-17α-hydroxylase deficiency: A case report].
Zhang, C. M., Yang, R., Li, R., Qiao, J., Wang, H. N., & Wang, Y. (2022) · PubMed Central · doi:10.19723/j.issn.1671-167x.2022.04.027 · Cited by 3
Assisted reproductive treatment for primary infertility in patients with partial or isolated 17α-hydroxylase/17,20-lyase deficiency: a case series and literature review
Chai, Q., Yang, W., Zhou, Y., Zhu, G., Dong, H., Huang, B., & Jin, L. (2025) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-025-03491-9 · Cited by 2
A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site
Habib, A., Shojazadeh, A., Molayemat, M., Khamirani, H. J., Zoghi, S., Dastgheib, S. A., & Habib, A. (2021) · Human Genome Variation · doi:10.1038/s41439-021-00160-y · Cited by 2
Primary and Secondary Amenorrhoea
Pergialiotis, V. (2021) · Cambridge University Press eBooks · doi:10.1017/9781108582322.013 · Cited by 2
Successful Pregnancy in Isolated 17,20-lyase Deficiency Without Glucocorticoid Use or Assisted Reproduction Techniques
de Oliveira, J. M., Genari, C. M., Sobral, P. M. S., Kater, C. E., & Costa‐Barbosa, F. A. (2024) · JCEM Case Reports · doi:10.1210/jcemcr/luae100 · Cited by 2
The Impact of Variants in Genes Associated with Estradiol Synthesis on Hormone Levels and Oocyte Retrieval in Patients Who Underwent Controlled Ovarian Hyperstimulation
Amaro, A., Polerá, D., Figueiredo, F. W. D. S., Bianco, B. A. V., Christofolini, D. M., & Barbosa, C. P. (2019) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2018.0205 · Cited by 2
A bioinformatic search for correspondence between differentially expressed genes of domestic versus wild animals and orthologous human genes altering reproductive potential
Ponomarenko, M. P., Чадаева, И. В., Пономаренко, П. М., Bogomolov, A. G., Oshchepkov, D. Y., Sharypova, E. B., Suslov, V. V., Осадчук, А. В., Осадчук, Л. В., & Matushkin, Y. G. (2022) · Vavilov Journal of Genetics and Breeding · doi:10.18699/vjgb-22-13 · Cited by 2
Congenital Adrenal Hyperplasia Due to 17-α-hydroxylase Deficiency: A Case Report
dos Santos, L. R., Heilbrun, É. P., Félix, C. S., Duarte, M. L., & Webimagem, S. P. (2021) · touchREVIEWS in Endocrinology · doi:10.17925/ee.2021.17.2.138 · Cited by 1
Avaliação clínica, laboratorial, genética e ovariana de pacientes 46,XX com deficiência da atividade do P450c17: uma revisão
de Carvalho, L. C. (2015) · doi:10.11606/d.5.2015.tde-04082015-112303
Androgenic Disorders and Abnormal Pubertal Development
Speiser, P. (2016) · Springer eBooks · doi:10.1007/978-3-319-27225-2_6
17α-Hydroxylase/17, 20-Lyase Deficiency
Igaz, P. (2021) · Springer eBooks · doi:10.1007/978-3-030-62011-0_35
AAV-Mediated Gene Therapy Produces Fertile Offspring in the Lhcgr-Deficient Mouse Model of Leydig Cell FailurePreprint
Xia, K., Wang, F., Lai, X., Luo, P., Chen, H., Ma, Y., Huang, W., Ou, W., Li, Y., Feng, X. L., et al. (2022) · SSRN Electronic Journal · doi:10.2139/ssrn.4052014
A Chinese girl with delayed puberty due to 17α-hydroxylase deficiency: the diagnosis, treatment and monitoring approach
Yu, G. C. F., Tay, M., Chen, S. P.-L., Leung, M. T., & Tung, J. Y. (2023) · Endocrinology Diabetes and Metabolism Case Reports · doi:10.1530/edm-23-0047
Primary Ovarian Insufficiency: Current Understanding and Diagnostic Approaches
Priya, R., Bhaskaran, K., Suresh, A., Muninathan, N., Gopikrishnan, V., Deepthi, S., RK, A. R. A., Surekha, V., & Dinesh Roy, D. (2023) · Journal Of Advanced Zoology · doi:10.17762/jaz.v44is-5.1068
Hypokalaemic hypertension and 17-alpha-hydroxylase/17,20-lyase deficiency in a young girl: a case report
Yau, H., Lo, W., Yuen, Y., Leung, M., & Ng, K. (2024) · Hong Kong Medical Journal · doi:10.12809/hkmj2210635
Adolescent exposure to Δ9-tetrahydrocannabinol impairs testicular function in young adult male mice
Lim, J., Quach, C., Nguyen, J. K., Rizk, A., Getze, S., Jung, K., Mahler, S. V., Piomelli, D., & Luderer, U. (2025) · Toxicological Sciences · doi:10.1093/toxsci/kfaf035
Unraveling the genetic and pathophysiological mechanisms underlying disorders of sex development
Wang, Y., Zhao, H., Yan, H., & Wang, Y. (2025) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2025.01015
Regulation of early gonocyte differentiation in zebrafish
Wilson, M. L., & Marlow, F. L. (2025) · Biochemical Society Transactions · doi:10.1042/bst20253046
Adrenal Venous Sampling Aids in Distinguishing 17-Hydroxyprogesterone Hypersecreting Adrenal Cortical Adenomas from Non-Classical 21-Hydroxylase Deficiency
Qiu, R., Yang, T., Shang, C., Zhu, W., & Zheng, F. (2026) · Diagnostics · doi:10.3390/diagnostics16020202
Selenomethionine antagonizes sodium arsenite-induced reproductive toxicity in zebrafish
Zhang, Y., Wang, H., Bo, X., Xu, Y., Xie, L., Li, Y., Mu, J., He, J., Zheng, N., Zhao, B., et al. (2026) · Comparative Biochemistry and Physiology Part C Toxicology & Pharmacology · doi:10.1016/j.cbpc.2026.110520
Clinical pregnancy outcomes with assisted reproduction in patients with 17α-Hydroxylase/17, 20-lyase deficiency: a single center cohort study and integrated analysis with reported cases
Liu, Y., Zhang, C., Lu, R. Q., Li, R., Wang, Y., & Wang, H. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1864787
Congenital adrenal hyperplasia in children: a comprehensive review of clinical spectrum, diagnostic strategies, and management approaches
Giri, D., Alderson, J., Bashir, M., Shalaby, M. S., Williams, C., & Park, J. (2026) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2026-0106

Authors: Marsh, C. A., & Auchus, R. J.
Affiliations: University of Kansas (US)
University of Michigan (US)
Corresponding author: Auchus, Richard J.
ORCID: Marsh, Courtney A.
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)
DOI: 10.1016/j.fertnstert.2013.11.011
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

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Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency

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