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

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

Minireview: Regulation of Steroidogenesis by Electron Transfer

Miller, W. L. (2005) · Endocrinology · doi:10.1210/en.2005-0096 · Cited by 324 · see citing works

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 · see citing works

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 · see citing works

Two Prevalent <i>CYP17</i> 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 &amp; Metabolism · doi:10.1210/jc.2003-031021 · Cited by 224 · see citing works

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 · see citing works

Male pseudohermaphroditism due to 17α-hydroxylase deficiency

New, M. I. (1970) · Journal of Clinical Investigation · doi:10.1172/jci106412 · Cited by 211 · see citing works

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 &amp; Metabolism · doi:10.1210/jc.2008-1414 · Cited by 170 · see citing works

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 &amp; Metabolism · doi:10.1210/jcem-63-3-789 · Cited by 160 · see citing works

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 · see citing works

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 · see citing works

Disorders of steroid 17 alpha-hydroxylase deficiency.

Kater, C. E., & Biglieri, E. G. (1994) · PubMed · Cited by 145 · see citing works

The syndrome of 17,20 lyase deficiency

Miller, W. L. (2012) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2011-2161 · Cited by 143 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 126 · see citing works

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 &amp; Metabolism · doi:10.1210/jc.2001-011880 · Cited by 125 · see citing works

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 &amp; Metabolism · doi:10.1210/jc.2008-1745 · Cited by 111 · see citing works

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 · see citing works

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 &amp; Metabolism · doi:10.1210/jc.2011-2413 · Cited by 104 · see citing works

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 · see citing works

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 · see citing works

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 &amp; Metabolism · doi:10.1210/jc.2008-0051 · Cited by 95 · see citing works

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 &amp; Metabolism · doi:10.1210/jcem.81.10.8855840 · Cited by 84 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works

The Deep Correlation between Energy Metabolism and Reproduction: A View on the Effects of Nutrition for Women Fertility

Fontana, R., & Torre, S. D. (2016) · Nutrients · doi:10.3390/nu8020087 · Cited by 218 · see citing works

Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia

Turcu, A. F., & Auchus, R. J. (2015) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2015.02.002 · Cited by 177 · see citing works

Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life

Wisniewski, A. B., Batista, R. L., Costa, E. M. F., Finlayson, C. A., Sircili, M. H. P., Dénes, F. T., Domenice, S., & Mendonca, B. B. (2019) · Endocrine Reviews · doi:10.1210/er.2019-00049 · Cited by 171 · see citing works

Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y‐derived sequence

Huang, H. F., Wang, C., & Tian, Q. (2016) · Clinical Endocrinology · doi:10.1111/cen.13255 · Cited by 106 · see citing works

Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency

Auchus, R. J., Buschur, E. O., Chang, A. Y., Hammer, G. D., Ramm, C., Madrigal, D., Wang, G., Gonzalez, M., Xu, X. S., Smit, J. W., et al. (2014) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2014-1258 · Cited by 97 · see citing works

Disorders of Sex Development: Classification, Review, and Impact on Fertility

Acién, P., & Acién, M. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9113555 · Cited by 83 · see citing works

Fertility in disorders of sex development: A review

Batavia, J. V., & Kolon, T. F. (2016) · Journal of Pediatric Urology · doi:10.1016/j.jpurol.2016.09.015 · Cited by 71 · see citing works

Successful Live Birth in a Woman With 17α-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer

Bianchi, P. H. M., Gouveia, G. R. F. C., Costa, E. M. F., Domenice, S., Martin, R. M., de Carvalho, L. C., Pelaes, T. S., Inácio, M., Codarin, R. R., de Faria, M. B. S., et al. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3201 · Cited by 59 · see citing works

Classic congenital adrenal hyperplasia and its impact on reproduction

Gomes, L. G., Bachega, T. A. S. S., & Mendonca, B. B. (2019) · Fertility and Sterility · doi:10.1016/j.fertnstert.2018.11.037 · Cited by 58 · see citing works

The Fate of Leydig Cells in Men with Spermatogenic Failure

Adamczewska, D., Słowikowska‐Hilczer, J., & Walczak-Jędrzejowska, R. (2022) · Life · doi:10.3390/life12040570 · Cited by 57 · see citing works

17α-Hydroxylase/17, 20-Lyase Deficiency: Clinical and Molecular Characterization of Eight Chinese Patients

Wu, C., Fan, S., Qian, Y., Zhou, Y., Jin, J., Dai, Z., & Jiang, L. (2017) · Endocrine Practice · doi:10.4158/ep161610.or · Cited by 46 · see citing works

CYP17A1 deficient XY mice display susceptibility to atherosclerosis, altered lipidomic profile and atypical sex development

Aherrahrou, R., Kulle, A. E., Alenina, N. V., Werner, R., Vens-Cappell, S., Bäder, M., Schunkert, H., Erdmann, J., & Aherrahrou, Z. (2020) · Scientific Reports · doi:10.1038/s41598-020-65601-0 · Cited by 44 · see citing works

Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency

Kurnaz, E., Baykan, E. K., Türkyılmaz, A., Yaralı, O., Abalı, Z. Y., Turan, S., Bereket, A., Çayır, A., & Güran, T. (2020) · Hormone Research in Paediatrics · doi:10.1159/000515079 · Cited by 44 · see citing works

The hunt for a selective 17,20 lyase inhibitor; learning lessons from nature

Bird, I. M., & Abbott, D. H. (2016) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.04.021 · Cited by 43 · see citing works

Augmentation of progestin signaling rescues testis organization and spermatogenesis in zebrafish with the depletion of androgen signaling

Zhai, G., Shu, T., Yu, G., Tang, H., Shi, C., Jia, J., Lou, Q., Dai, X., Jin, X., He, J., et al. (2022) · eLife · doi:10.7554/elife.66118 · Cited by 40 · see citing works

Infertility and Reproductive Function in Patients with Congenital Adrenal Hyperplasia

Lekarev, O., Lin-Su, K., & Vogiatzi, M. G. (2015) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2015.07.009 · Cited by 38 · see citing works

Update on Adrenarche—Still a Mystery

Augsburger, P., Liimatta, J., & Flück, C. E. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae008 · Cited by 41 · see citing works

Genetic Alterations Affecting Cholesterol Metabolism and Human Fertility1

DeAngelis, A. M., Roy-O’Reilly, M. A., & Rodríguez, A. (2014) · Biology of Reproduction · doi:10.1095/biolreprod.114.119883 · Cited by 34 · see citing works

Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects

de Carvalho, L. C., Brito, V. N., Martin, R. M., Zamboni, A. M., Gomes, L. G., Inácio, M., Mermejo, L. M., Coeli‐Lacchini, F. B., Teixeira, V. R., Gonçalves, F. T., et al. (2016) · Fertility and Sterility · doi:10.1016/j.fertnstert.2016.02.008 · Cited by 33 · see citing works

17α-hydroxylase/17,20-lyase deficiency in congenital adrenal hyperplasia: A case report

Xu, S., Hu, S., Yu, X., Zhang, M., & Yang, Y. (2016) · Molecular Medicine Reports · doi:10.3892/mmr.2016.6029 · Cited by 32 · see citing works

AAV-mediated gene therapy produces fertile offspring in the Lhcgr-deficient mouse model of Leydig cell failure

Xia, K., Wang, F., Lai, X., Dong, L., Luo, P., Zhang, S., Yang, C., Chen, H., Ma, Y., Huang, W., et al. (2022) · Cell Reports Medicine · doi:10.1016/j.xcrm.2022.100792 · Cited by 33 · see citing works

Leydig cell dysfunction is associated with post-transcriptional deregulation of CYP17A1 in men with Sertoli cell-only syndrome

Lardone, M. C., Argandoña, F., Lorca, M., Piottante, A., Flórez, M., Palma, C., Ebensperger, M., & Andrea Castro, G. (2018) · Molecular Human Reproduction · doi:10.1093/molehr/gay006 · Cited by 29 · see citing works

Insights into Interactions of Human Cytochrome P450 17A1: A Review

Singh, H., Kumar, R., Mazumder, A., Salahuddin, S., Mazumder, R., & Abdullah, M. M. (2022) · Current Drug Metabolism · doi:10.2174/1389200223666220401093833 · Cited by 27 · see citing works

Associations of LH and FSH with reproductive hormones depending on each stage of the menopausal transition

Kawakita, T., Yasui, T., Yoshida, K., Matsui, S., & Iwasa, T. (2023) · BMC Women s Health · doi:10.1186/s12905-023-02438-5 · Cited by 27 · see citing works

Phenotypic Heterogeneity and Fertility Potential of Patients With 17-Hydroxylase/17,20-lyase Deficiency

Xu, Y., Jiang, S., Yan, Z., Niu, Y., Du, W., Liu, B., Han, B., Liu, X., Zhao, S., Song, H., et al. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac029 · Cited by 26 · see citing works

Two consecutive successful live birth in woman with 17α hydroxylase deficiency by frozen–thaw embryo transfer under hormone replacement endometrium preparation

Kitajima, M., Miura, K., Inoue, T., Murakami, Y., Kitajima, Y., Murakami, N., Taniguchi, K., Yoshiura, K., & Masuzaki, H. (2017) · Gynecological Endocrinology · doi:10.1080/09513590.2017.1393512 · Cited by 24 · see citing works

Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing

Shen, J., Qu, D., Gao, Y., Sun, F., Xie, J., Sun, X., Wang, D. W., Ma, X., Cui, Y., Liu, J., et al. (2021) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-021-02083-7 · Cited by 23 · see citing works

High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17α-hydroxylase deficiency

Zhao, Z., Lü, L., Wang, O., Wu, X., Sun, B., Zhang, W. Y., Wang, X., Mao, J., Chen, S., Tong, A., et al. (2022) · Endocrine · doi:10.1007/s12020-021-02966-w · Cited by 23 · see citing works

Pediatric Disorders of Sex Development

Achermann, J. C., & Hughes, I. A. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-29738-7.00023-x · Cited by 21 · see citing works

Successful fertility outcome in a woman with 17ɑ‐hydroxylase deficiency

Falhammar, H. (2018) · Clinical Endocrinology · doi:10.1111/cen.13549 · Cited by 20 · see citing works

Getting pregnant with congenital adrenal hyperplasia: Assisted reproduction and pregnancy complications. A systematic review and meta-analysis

Guo, X., Zhang, Y., Yu, Y., Zhang, L., Ullah, K., Ji, M., Jin, B., & Shu, J. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.982953 · Cited by 20 · see citing works

17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort

Şıklar, Z., Çamtosun, E., Bolu, S., Yıldız, M., Akıncı, A., Baş, F., Dündar, İ., Beştaş, A., Ünal, E., Kocaay, P., et al. (2024) · Endocrine · doi:10.1007/s12020-024-03962-6 · Cited by 21 · see citing works

Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters

Витальевна, Ч. И., Ponomarenko, P. M., Рассказов, Д. А., Sharypova, E. B., Kashina, E. V., Zhechev, D. A., Drachkova, I. A., Arkova, O. V., Savinkova, L. K., Ponomarenko, M. P., et al. (2018) · BMC Genomics · doi:10.1186/s12864-018-4478-3 · Cited by 19 · see citing works

Precise Correction of Lhcgr Mutation in Stem Leydig Cells by Prime Editing Rescues Hereditary Primary Hypogonadism in Mice

Xia, K., Wang, F., Tan, Z., Zhang, S., Lai, X., Ou, W., Yang, C., Chen, H., Peng, H. Y., Luo, P., et al. (2023) · Advanced Science · doi:10.1002/advs.202300993 · Cited by 19 · see citing works

The Effect of Soy Isoflavones on Steroid Metabolism

Swart, A. C., Johannes, I. D., Sathyapalan, T., & Atkin, S. L. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00229 · Cited by 18 · see citing works

Successful Delivery in 17,20-Lyase Deficiency

Blumenfeld, Z., & Koren, I. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab222 · Cited by 17 · see citing works

Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility

Leung, M. T., Cheung, H. N., Iu, Y. P. H., Choi, C. H., Tiu, S. C., & Shek, C. C. (2019) · Journal of the Endocrine Society · doi:10.1210/jendso/bvz016 · Cited by 17 · see citing works

A Novel Compound Heterozygous CYP17A1 Variant Causes 17α-Hydroxylase/17, 20-Lyase Deficiency

Chen, H., Yuan, K., Zhang, B., Jia, Z., Chen, C., Zhu, Y., Sun, Y., Zhou, H., Huang, W., Liang, L., et al. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00996 · Cited by 14 · see citing works

Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients

Zhang, D., Yao, F., Luo, M., Wang, Y., Tian, T., Deng, S., & Tian, Q. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.978026 · Cited by 13 · see citing works

17α-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases

Willemsen, A. L., Torpy, D. J., Sousa, S. M. C. D., Falhammar, H., & Rushworth, R. L. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae773 · Cited by 12 · see citing works

Therapeutic Strategies and Potential Actions of Female Sex Steroid Hormones and Their Receptors in Colon Cancer Based on Preclinical Studies

Mahbub, A. A. (2022) · Life · doi:10.3390/life12040605 · Cited by 12 · see citing works

Fertility counseling and preservation: considerations for the pediatric endocrinologist

Saraf, A. J., & Nahata, L. (2017) · Translational Pediatrics · doi:10.21037/tp.2017.07.02 · Cited by 12 · see citing works

Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency

Xia, Y., Shi, P., Xia, J., Zhang, H., Xu, L., & Kong, X. (2021) · Steroids · doi:10.1016/j.steroids.2021.108873 · Cited by 12 · see citing works

Protein kinase B (Akt) blockade inhibits LH/hCG-mediated 17,20-lyase, but not 17α-hydroxylase activity of Cyp17a1 in mouse Leydig cell steroidogenesis

Paradiso, E., Lazzaretti, C., Sperduti, S., Melli, B., Trenti, T., Tagliavini, S., Roli, L., d’Achille, F., Beltrán‐Frutos, E., Simoni, M., et al. (2023) · Cellular Signalling · doi:10.1016/j.cellsig.2023.110872 · Cited by 10 · see citing works

Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3.

Krzemińska, P., Niżański, W., Nowacka-Woszuk, J., & Świtoński, M. (2019) · Animal Genetics · doi:10.1111/age.12850 · Cited by 6 · see citing works

Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population

Xia, J., Liu, F., Wu, J., Xia, Y., Zhao, Z., Zhao, Y., Ren, H., & Kong, X. (2020) · Endocrine Practice · doi:10.4158/ep-2020-0478 · Cited by 10 · see citing works

A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency

Beştaş, A., Bolu, S., Ünal, E., Karakaya, A. A., Eröz, R., Tekin, M., & Haspolat, Y. K. (2021) · Endocrine · doi:10.1007/s12020-021-02914-8 · Cited by 10 · see citing works

Rare forms of genetic steroidogenic defects affecting the gonads and adrenals

Boettcher, C., & Flück, C. E. (2021) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2021.101593 · Cited by 10 · see citing works

Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients

Fernández‐Cancio, M., García, E. G., González-Cejudo, C., Martínez-Maestre, M. Á., Mangas-Cruz, M.-A., Guerra‐Júnior, G., de Mello, M. P., Arnhold, I. J. P., Nishi, M. Y., Mendonca, B. B., et al. (2017) · Sexual Development · doi:10.1159/000468160 · Cited by 9 · see citing works

Hexafluoropropylene oxide trimer acid (HFPO-TA) exerts cytotoxic effects on leydig cells via the ER stress/JNK/β-trcp/mcl-1 axis

Shen, H., Fu, L., Cai, Y., Zhu, K., & Chen, X. (2024) · Food and Chemical Toxicology · doi:10.1016/j.fct.2024.114678 · Cited by 8 · see citing works

Endocrine profiles and cycle characteristics of infertile 17α-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study

Ping, P., Zheng, L., Huang, J. F., Chen, X., Ni, R., Zhang, Q., Yang, D., & Li, Y. (2023) · Journal of Ovarian Research · doi:10.1186/s13048-023-01190-6 · Cited by 8 · see citing works

Systematic analysis of the ubiquitome in mouse testis

Guo, Y., Zhang, H., Yao, L., Li, Y., Situ, C., Sha, J., Chen, D., & Guo, X. (2021) · PROTEOMICS · doi:10.1002/pmic.202100025 · Cited by 8 · see citing works

Mammalian target of rapamycin/eukaryotic initiation factor 4F pathway regulates follicle growth and development of theca cells in mice

Zhang, C., Liu, X., Cao, Y., Tian, J.-L., Zhen, D., Luo, X.-F., Wang, X.-M., Tian, J., & Gao, J. (2016) · Reproduction Fertility and Development · doi:10.1071/rd15230 · Cited by 7 · see citing works

Reproductive endocrine characteristics and in vitro fertilization treatment of female patients with partial 17α-hydroxylase deficiency: Two pedigree investigations and a literature review

Jiang, S., Xu, Y., Qiao, J., Wang, Y., & Kuang, Y. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.970190 · Cited by 7 · see citing works

Fertility Issues in Pediatric Urology

Kieran, K., & Shnorhavorian, M. (2018) · Urologic Clinics of North America · doi:10.1016/j.ucl.2018.06.006 · Cited by 7 · see citing works

A novel CYP 17 A 1 deletion causes a functional knockout of the steroid enzyme 17‐hydroxylase and 17,20‐lyase in a T urkish family and illustrates the precise role of the CYP 17 A 1 gene

Camats, N., Üstyol, A., Atabek, M. E., Dick, B., & Flück, C. E. (2015) · Clinical Case Reports · doi:10.1002/ccr3.343 · Cited by 7 · see citing works

46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation ofCYP17A1Gene: Consequences of Late Diagnosis

Papi, G., Paragliola, R. M., Concolino, P., Donato, C. D., Pontecorvi, A., & Corsello, S. M. (2018) · Case Reports in Endocrinology · doi:10.1155/2018/2086861 · Cited by 7 · see citing works

A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review

Chen, H., Chen, Y., Mao, H., Huang, H., & Lou, X. (2023) · Blood Pressure · doi:10.1080/08037051.2023.2195008 · Cited by 6 · see citing works

Pregnancy outcomes in in vitro fertilization in 17-alpha-hydroxylase deficiency

van Oosbree, A., Asif, A., Hmaidan, S., & DeCherney, A. H. (2023) · F&S Reports · doi:10.1016/j.xfre.2023.02.012 · Cited by 6 · see citing works

Fertility and pregnancy in adrenal insufficiency

Green, D., Dineen, R., O’Reilly, M., & Sherlock, M. (2023) · Endocrine Connections · doi:10.1530/ec-23-0088 · Cited by 8 · see citing works

Integrated analysis of lncRNA, miRNA and mRNA expression profiles reveals regulatory pathways associated with pig testis function

Wang, P., Liu, Z., Zhang, X., Huo, H., Wang, L., Dai, H., Yang, F., Zhao, G., & Huo, J. (2024) · Genomics · doi:10.1016/j.ygeno.2024.110819 · Cited by 6 · see citing works

Gene mutations that promote adrenal aldosterone production, sodium retention, and hypertension

Auchus, R. J., Moraitis, A. G., & Rainey, W. E. (2013) · The Application of Clinical Genetics · doi:10.2147/tacg.s35571 · Cited by 6 · see citing works

Reproductive Function and Fertility in Women with Congenital Adrenal Hyperplasia

Pereira, N., & Lin‐Su, K. (2018) · EMJ Reproductive Health · doi:10.33590/emjreprohealth/10314092 · Cited by 6 · see citing works

Full-term live birth in a woman with 17α-hydroxylase and 17,20-lyase deficiency with assisted reproductive technology: a case report

Xi, S., Yang, X., Shan, X., & Xue, Q. (2023) · BMC Women s Health · doi:10.1186/s12905-023-02492-z · Cited by 5 · see citing works

Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency

İsakoca, M., Erdeve, Ş. S., & Çetinkaya, S. Ç. (2024) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2024.2024-6-21-s · Cited by 5 · see citing works

Congenital Adrenal Hyperplasia

Trapp, C. M., Levine, L. S., & Oberfield, S. E. (2018) · Springer eBooks · doi:10.1007/978-3-319-73782-9_14 · Cited by 7 · see citing works

Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1–6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience

Dündar, İ., Akıncı, A., Çamtosun, E., Çiftçi, N., & Kayaş, L. (2023) · Sexual Development · doi:10.1159/000529158 · Cited by 5 · see citing works

Bone Microarchitecture and Volumetric Mineral Density Assessed by HR-pQCT in Patients with 21- and 17α-Hydroxylase Deficiency

Sun, X., Wu, Y., Lü, L., Xia, W., Zhang, L., Chen, S., Nie, M., Zheng, G., Su, W., Zhu, H., et al. (2023) · Calcified Tissue International · doi:10.1007/s00223-023-01132-w · Cited by 5 · see citing works

Адреногенітальний синдром: молекулярні механізми розвитку

Pishak, V. P., & Ryznychuk, М. О. (2017) · INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (Ukraine) · doi:10.22141/2224-0721.13.2.2017.100612 · Cited by 5 · see citing works

Introduction

Rosenwaks, Z., & Adashi, E. Y. (2014) · Fertility and Sterility · doi:10.1016/j.fertnstert.2013.12.023 · Cited by 5 · see citing works

Estrogen-secreting testicular tumors in 46,XY female patients with 17α-hydroxylase/17,20-lyase deficiency: two unusual case reports and a review of the literature

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 · see citing works

Exploring associations between estrogen and gene candidates identified by coronary artery disease genome-wide association studies

Aminbakhsh, A., Théberge, E. T., Burden, E., Adejumo, C. K., Gravely, A., Lehman, A., & Sedlak, T. (2025) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2025.1502985 · Cited by 4 · see citing works

Dexamethasone application for in vitro fertilisation in non-classic 17-hydroxylase/17,20-lyase-deficient women

Yang, X., Zhang, T., Shang, J., Xue, Q., Kuai, Y., Wang, S., & Xu, Y. Y. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.971993 · Cited by 3 · see citing works

Successful Treatment of Infertility in a Patient with Probable 17 Hydroxylase Deficiency and Particularities of Association with Adrenal Autoimmunity—A Case Report and Review of the Literature

Albu, A. I., Iancu, M. E., & Albu, D. N. (2023) · Life · doi:10.3390/life13040921 · Cited by 3 · see citing works

Overview of the Intersection of Genomics of Cholesterol Metabolism and Cardiometabolic Disease with Reproductive Health, Especially in Women

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 · see citing works

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 · see citing works

Endocrine Disturbances Affecting Reproduction

Chang, A. Y., & Auchus, R. J. (2019) · Elsevier eBooks · doi:10.1016/b978-0-323-47912-7.00024-x · Cited by 3 · see citing works

[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 · see citing works

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 · see citing works

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 · see citing works

Primary and Secondary Amenorrhoea

Pergialiotis, V. (2021) · Cambridge University Press eBooks · doi:10.1017/9781108582322.013 · Cited by 2 · see citing works

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 · see citing works

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 · see citing works

A bioinformatic search for correspondence between differentially expressed genes of domestic versus wild animals and orthologous human genes altering reproductive potential

Ponomarenko, M. P., Витальевна, Ч. И., Ponomarenko, P. M., 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 · see citing works

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 · see citing works

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. E., & Park, J. (2026) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2026-0106

Genetic deficiencies of cytochrome P450c17 (CYP17A1) combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency

Auchus, R. J. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-821424-4.00008-3 · Cited by 1 · see citing works

Genetic Deficiencies of Cytochrome P450c17 (CYP17A1)

Auchus, R. J. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-416006-4.00009-0 · Cited by 6 · see citing works

A rare enzymatic defect, true isolated 17,20-lyase deficiency leading to endocrine disorders and infertility: case report

Afsar, J., Kachuei, A., Hashemipour, M., Harchegani, A. L., & Shabib, S. (2019) · Gynecological Endocrinology · doi:10.1080/09513590.2019.1683819 · Cited by 2 · see citing works

Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic

Auchus, R. J. (2016) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.02.002 · Cited by 233 · see citing works

17α-Hydroxylase/17,20-lyase deficiency caused by homozygosity of a novel mutation (Y27Stop) in the cytochrome P450c17 (CYP17) gene

Müssig, K., Kaltenbach, S., Schnauder, G., Maser‐Gluth, C., Machicao, F. E., Häring, H., Gallwitz, B., & Seif, F. J. (2005) · Experimental and Clinical Endocrinology & Diabetes · doi:10.1055/s-2005-862813