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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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-citation
Cytochrome 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-citation
The Microenvironment of the Human Antral Follicle: Interrelationships among the Steroid Levels in Antral Fluid, the Population of Granulosa Cells, and the Status of the Oocyte in Vivo and in Vitro *
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
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
Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues.
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
Cloning and Sequence of the Human Gene for P450cl7 (Steroid 17α-Hydroxylase/17,20 Lyase): Similarity with the Gene for P450c21
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
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study
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
THE GENETICS, PATHOPHYSIOLOGX, AND MANAGEMENT OF HUMAN DEFICIENCIES OF P450c17
Auchus, R. J. (2001) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(08)70021-5 · Cited by 266
Self-citation
Two Prevalent CYP17 Mutations and Genotype-Phenotype Correlations in 24 Brazilian Patients with 17-Hydroxylase Deficiency
Costa-Santos, M., Kater, C. E., & Auchus, R. J. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-031021 · Cited by 224
Self-citation
The role of cytochrome b5 in the biosynthesis of androgens by human P450c17
Katagiri, M., Kagawa, N., & Waterman, M. R. (1995) · Archives of Biochemistry and Biophysics · doi:10.1006/abbi.1995.1173 · Cited by 223
Male pseudohermaphroditism due to 17α-hydroxylase deficiency
New, M. I. (1970) · Journal of Clinical Investigation · doi:10.1172/jci106412 · Cited by 211
High prevalence of reduced fecundity in men with congenital adrenal hyperplasia
Reisch, N., Flade, L., Scherr, M., Rottenkolber, M., Pedrosa Gil, F., Bidlingmaier, M., Wolff, H., Schwarz, H.-P., Quinkler, M., Beuschlein, F., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1414 · Cited by 170
ASSIGNMENT OF THE GENE FOR ADRENAL P450cl7 (STEROID 17α-HYDR0XYLASE⁄17,20 LYASE) TO HUMAN CHROMOSOME 10.
MATTESON, K. J., PICADO-LEONARD, J., CHUNG, B.-C., MOHANDAS, T. K., & MILLER, W. L. (1986) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-63-3-789 · Cited by 160
Flavodoxin and NADPH-flavodoxin reductase from Escherichia coli support bovine cytochrome P450c17 hydroxylase activities.
Jenkins, C. M., & Waterman, M. R. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)46999-2 · Cited by 153
Disorders of steroid 17α-hydroxylase deficiency
Kater, C. E., & Biglieri, E. G. (1994) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(18)30101-4 · Cited by 146
Disorders of steroid 17 alpha-hydroxylase deficiency.
Kater, C. E., & Biglieri, E. G. (1994) · PubMed · Cited by 145
The syndrome of 17,20 lyase deficiency
Miller, W. L. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-2161 · Cited by 143
The relationship between follicular fluid steroid concentration and successful fertilization of human oocytes in vitro
Botero-Ruiz, W., Laufer, N., DeCherney, A. H., Polan, M. L., Haseltine, F. P., & Behrman, H. R. (1984) · Fertility and Sterility · doi:10.1016/s0015-0282(16)47892-1 · Cited by 139
CYP17 mutation E305G causes isolated 17,20 lyase deficiency by selectively altering substrate binding
Sherbet, D. P., Tiosano, D., Kwist, K. M., Hochberg, Z., & Auchus, R. J. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m307586200 · Cited by 131
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In VitroFertilization and Primary Embryonic Cleavage Are Possible in 17α-Hydroxylase Deficiency Despite Extremely Low Intrafollicular 17β-Estradiol
Rabinovici, J., Blankstein, J., Goldman, B., RUDAK, E., DOR, Y., Pariente, C., Geier, A., Lunenfeld, B., & Mashiach, S. (1989) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-68-3-693 · Cited by 130
Differential inhibition of 17α-hydroxylase and 17,20 lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency
van den Akker, E. L. T., Koper, J. W., Boehmer, A. L. M., Themmen, A. P. N., Verhoef-Post, M., Timmerman, M. A., Otten, B. J., Drop, S. L. S., & De Jong, F. H. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2001-011880 · Cited by 125
Cytochrome b5 stimulates purified testicular microsomal cytochrome P-450 (C21 side-chain cleavage)
Onoda, M., & Hall, P. F. (1982) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(82)90850-6 · Cited by 122
Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X
Kok, R. C., Timmerman, M. A., Wolffenbuttel, K. P., Drop, S. L. S., & de Jong, F. H. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1745 · Cited by 111
P450c17 Deficiency in Brazilian Patients: Biochemical Diagnosis through Progesterone Levels Confirmed by CYP17 Genotyping
Martin, R. M., Lin, C. J., Costa, E. M. F., de Oliveira, M. L., Carrilho, A. J. F., Villar, H. C. C. E., Longui, C. A., & Mendonca, B. B. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030988 · Cited by 106
A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency
Idkowiak, J., Randell, T., Dhir, V., Patel, P., Shackleton, C. H. L., Taylor, N. F., Krone, N., & Arlt, W. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-2413 · Cited by 104
Congenital Adrenal Hyperplasia Secondary to 17-Hydroxylase Deficiency
Mallin, S. R. (1969) · Annals of Internal Medicine · doi:10.7326/0003-4819-70-1-69 · Cited by 100
Deletion of a phenylalanine in the N-terminal region of human cytochrome P-45017α results in partial combined 17α-hydroxylase/17,20-lyase deficiency
Yanase, T., Kagimoto, M., Suzuki, S., Hashiba, K., Simpson, E. R., & Waterman, M. R. (1989) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)84680-x · Cited by 96
Homozygous Mutation G539R in the Gene for P450 Oxidoreductase in a Family Previously Diagnosed as Having 17,20-Lyase Deficiency
Hershkovitz, E., Parvari, R., Wudy, S. A., Hartmann, M. F., Gomes, L. G., Loewental, N., & Miller, W. L. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0051 · Cited by 95
Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17.
Miura, K., Yasuda, K., Yanase, T., Yamakita, N., Sasano, H., Nawata, H., Inoue, M., Fukaya, T., & Shizuta, Y. (1996) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.81.10.8855840 · Cited by 84
In vitro fertilization as a diagnostic and therapeutic tool in a patient with partial 17,20-desmolase deficiency
Pellicer, A., Miró, F., Sampaio, M., Gómez, E., & Bonilla-Musoles, F. M. (1991) · Fertility and Sterility · doi:10.1016/s0015-0282(16)54308-8 · Cited by 81
Metabolic evidence for impaired 17α-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity
Tiosano, D., Knopf, C. F., Koren, I., Levanon, N., Hartmann, M. F., Hochberg, Z., & Wudy, S. A. (2008) · European Journal of Endocrinology · doi:10.1530/eje-07-0712 · Cited by 70
Familial Partial 17,20-Desmolase and 17α-Hydroxylase Deficiency Presenting as Infertility
Levran, D., Ben‐Shlomo, I., Pariente, C., Dor, J., Mashiach, S., & Weissman, A. (2003) · Journal of Assisted Reproduction and Genetics · doi:10.1023/a:1021206704958 · Cited by 55
Control of androgen biosynthesis in the human through the interaction of Arg347 and Arg358 of CYP17 with cytochrome b5
LEE-ROBICHAUD, P., AKHTAR, M. E., & AKHTAR, M. (1998) · Biochemical Journal · doi:10.1042/bj3320293 · Cited by 54
The Unique Patterns of Plasma Aldosterone and 18-Hydroxycorticosterone Concentrations in the 17α-Hydroxylase Deficiency Syndrome*
Kater, C. E., Biglieri, E. G., Brust, N., CHANG, B. C. F., & HIRAI, J. (1982) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-55-2-295 · Cited by 48
Periovulatory 17β-estradiol changes and embryo morphologic features in conception and nonconceptional cycles after human in vitro fertilization
Dor, J., Rudak, E., Mashiach, S., Nebel, L., Serr, D. M., & Goldman, B. (1986) · Fertility and Sterility · doi:10.1016/s0015-0282(16)49098-9 · Cited by 36
Arrest of follicular development in a patient with 17α-hydroxylase deficiency: folliculogenesis in association with a lack of estrogen synthesis in the ovaries
Araki, S., CHIKAZAWA, K., Sekiguchi, I., Yamauchi, H., Motoyama, M., & Tamada, T. (1987) · Fertility and Sterility · doi:10.1016/s0015-0282(16)49955-3 · Cited by 32
Induction of endometrial cycles and ovulation in a woman with combined 17α-hydroxylase/17,20-lyase deficiency due to compound heterozygous mutations on the P45017α gene
Matsuzaki, S., Yanase, T., Murakami, T., Uehara, S., Nawata, H., & Yajima, A. (2000) · Fertility and Sterility · doi:10.1016/s0015-0282(00)00500-8 · Cited by 30
Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty
Şimşek, E., Özdemir, İ., Lin, L., & Achermann, J. C. (2005) · Fertility and Sterility · doi:10.1016/j.fertnstert.2004.11.063 · Cited by 24
Subtle 17α-Hydroxylase/17,20-Lyase Deficiency with Homozygous Y201N Mutation in an Infertile Woman
Taniyama, M., Tanabe, M., Saito, H., Ban, Y., Nawata, H., & Yanase, T. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-2067 · Cited by 23
Distinctive plasma aldosterone, 18-hydroxycorticosterone, and 18-hydroxydeoxycorticosterone profile in the 21-, 17α-, and 11β-hydroxylase deficiency types of congenital adrenal hyperplasia
Kater, C. E., & Biglieri, E. G. (1983) · The American Journal of Medicine · doi:10.1016/0002-9343(83)91166-x · Cited by 23
A Case of 17.ALPHA.-Hydroxylase Deficiency with Retained Menstruation.
Katayama, Y., Kado, S., Wada, S., NEMOTO, Y., Kugai, N., Furuya, K., & Nagata, N. (1994) · Endocrine Journal · doi:10.1507/endocrj.41.213 · Cited by 17
Primäre Amenorrhoe und Hypokaliämie infolge 17alpha-Hydroxylase-Mangels
LANGE, W. E. D., Lappöhn, R. E., Sluiter, W. J., & Doorenbos, H. (1977) · DMW - Deutsche Medizinische Wochenschrift · doi:10.1055/s-0028-1105458 · Cited by 16
Spontaneous sexual development and menarche in a female with 17 α-hydroxylase deficiency
Singhellakis, P. N., Panidis, D., Papadimas, J., Demertzi, H., Tsourdis, A., Sotsiou, F., & Ikkos, D. G. (1986) · Journal of Endocrinological Investigation · doi:10.1007/bf03348093 · Cited by 14
Substitution with testosterone as aromatizable substrate for induction of follicular maturation, estradiol production and ovulation in a patient with 17α-hydroxylase deficiency
Neuwinger, J., Licht, P., Munzer, B., Sir‐Petermann, T., Siebzehnrübl, E., & Wildt, L. (2009) · Experimental and Clinical Endocrinology & Diabetes · doi:10.1055/s-0029-1211475 · Cited by 12
17-Hydroxylase/17,20 Lyase Deficiency Diagnosed during Childhood
Wolthers, O. D., Rumsby, G., Techatraisak, K., Honour, J. W., & Hindmarsh, P. C. (2002) · Hormone Research in Paediatrics · doi:10.1159/000057964 · Cited by 11

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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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