Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency
Abstract
CONTEXT: P450 oxidoreductase (POR) deficiency is a disorder of steroidogenesis affecting the microsomal P450 enzymes that use POR as an electron donor. The clinical presentation is variable; patients can be asymptomatic or can present with genital anomalies and the Antley-Bixler syndrome, characterized by craniosynostosis and other bony anomalies. Obligately heterozygous parents are normal. Combined POR and 21-hydroxylase deficiencies have not been reported. OBJECTIVE: The aim was to explore the manifestations of combined deficiencies of 21-hydroxylase and POR and to search for lesions in apparent manifesting POR heterozygotes. PATIENTS AND METHODS: A newborn female had craniosynostosis, severe salt wasting, minimal virilization, grossly elevated 17OH-progesterone, and minimally elevated androgens. DNA encoding 21-hydroxylase, POR, and fibroblast growth factor receptor 2 was sequenced. For POR, the first untranslated exon (exon 1U), 5' flanking DNA, and most introns were sequenced in five apparent manifesting POR heterozygotes. RESULTS: CYP21B mutations were found on both alleles, proving classical 21-hydroxylase deficiency. Fibroblast growth factor receptor 2 exons 8 and 10 were normal. A POR mutation, A287P, was found only on the maternal allele. Five previously reported patients had POR mutations found on only one allele, but their clinical characteristics were indistinguishable from patients with mutations on both alleles. Sequencing of exon 1U, 274 bp of POR 5' flanking DNA, and 12 of the 15 POR introns did not identify additional mutations affecting gene expression or splicing. CONCLUSION: Manifesting heterozygosity is a possible feature of POR deficiency and may ameliorate the findings in coexisting 21-hydroxylase deficiency.
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The 69-kb human POR gene is located on chromosome 7q11.2 and consists of 16 exons.
“The 69-kb human POR gene, located on chromosome 7q11.2,consists of 16 exons (303).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [303]
The ‘Characterization of exon 1U’ section describes an additional human POR exon beyond the 15 previously described, supporting a total of 16. The ‘Sequence variants in the patients’ section gives lengths for three introns, but our copy does not state a 69-kb gene length or a location at chromosome 7q11.2; searches for those details found no supporting passage. Page numbers were unavailable in the indexed copy. (LLM, conf=0.84)
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Cites
Congenital Adrenal Hyperplasia
Speiser, P., & White, P. C. (1987) · New England Journal of Medicine · doi:10.1056/nejm198711263172211 · Cited by 1,409 · see citing works
Genotyping steroid 21-hydroxylase deficiency: hormonal reference data
NEW, M. I., LORENZEN, F., LERNER, A. J., KOHN, B., OBERFIELD, S. E., POLLACK, M. S., DUPONT, B., STONER, E., LEVY, D. J., PANG, S., et al. (1983) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-57-2-320 · Cited by 624 · 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
Self-citationMutant 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
Self-citationThe backdoor pathway to dihydrotestosterone
Auchus, R. J. (2004) · Trends in Endocrinology & Metabolism · doi:10.1016/j.tem.2004.09.004 · Cited by 347 · see citing works
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
Huang, N., Pandey, A. V., Agrawal, V., Reardon, W., Lapunzina, P. D., Mowat, D., Jabs, E. W., Vliet, G. V., Sack, J., Flück, C. E., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/429417 · Cited by 336 · see citing works
Self-citationMinireview: Regulation of Steroidogenesis by Electron Transfer
Miller, W. L. (2005) · Endocrinology · doi:10.1210/en.2005-0096 · Cited by 324 · see citing works
Self-citationThe 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
Self-citationShen, A. L., O'Leary, K. A., & Kasper, C. B. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m111408200 · Cited by 225 · see citing works
Genetics of Vitamin D 1α-Hydroxylase Deficiency in 17 Families
Wang, J. T., Lin, C.-J., Burridge, S. M., Fu, G. K., Labuda, M., Portale, A. A., & Miller, W. L. (1998) · The American Journal of Human Genetics · doi:10.1086/302156 · Cited by 198 · see citing works
Self-citationOtto, D. M. E., Henderson, C. J., Carrie, D., Davey, M., Gundersen, T. E., Blomhoff, R., Adams, R. H., Tickle, C., & Wolf, C. R. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.17.6103-6116.2003 · Cited by 189 · see citing works
Auchus, R. J., & Miller, W. L. (1999) · Molecular Endocrinology · doi:10.1210/mend.13.7.0326 · Cited by 185 · see citing works
Self-citationStikkelbroeck, N. M. M. L., Hoefsloot, L. H., de Wijs, I. J., Otten, B. J., Hermus, A. R. M. M., & Sistermans, E. A. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021681 · Cited by 171 · see citing works
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.
Richards, C. S., Watkins, S. C., Hoffman, E. P., Schneider, N. R., Milsark, I. W., Katz, K., Cook, J. D., Kunkel, L. M., & Cortada, J. M. (1990) · PubMed · Cited by 158 · see citing works
Fukami, M., Horikawa, R., Nagai, T., Tanaka, T., Naiki, Y., Sato, N., Okuyama, T., Nakai, H., Soneda, S., Tachibana, K., et al. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-0810 · Cited by 155 · see citing works
Homma, K., Hasegawa, T., Nagai, T., Adachi, M., Horikawa, R., Fujiwara, I., Tajima, T., Takeda, R., Fukami, M., & Ogata, T. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-2460 · Cited by 153 · see citing works
Peterson, R. E., Imperato-McGinley, J., Gautier, T., & Shackleton, C. (1985) · New England Journal of Medicine · doi:10.1056/nejm198511073131903 · Cited by 148 · see citing works
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
Reardon, W., Smith, A., Honour, J. W., Hindmarsh, P., Das, D., Rumsby, G., Nelson, I., Malcolm, S., Adès, L., Sillence, D., et al. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.1.26 · Cited by 123 · see citing works
Adachi, M., Tachibana, K., Asakura, Y., Yamamoto, T., Hanaki, K., & Oka, A. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30169 · Cited by 110 · see citing works
Shackleton, C., Marcos, J., Arlt, W., & Hauffa, B. P. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30171 · Cited by 104 · see citing works
Pinto, G., Tardy, V., Trivin, C., Thalassinos, C., Lortat-Jacob, S., Nihoul-Fékété, C., Morel, Y., & Brauner, R. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021433 · Cited by 101 · see citing works
5α-Reduced C21 steroids are substrates for human cytochrome P450c17
Gupta, M. K., Guryev, O. L., & Auchus, R. J. (2003) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2003.07.003 · Cited by 84 · see citing works
Fukami, M., Hasegawa, T., Horikawa, R., Ohashi, T., Nishimura, G., Homma, K., & Ogata, T. (2006) · Pediatric Research · doi:10.1203/01.pdr.0000195825.31504.28 · Cited by 79 · see citing works
Fugazzola, L., Cerutti, N., Mannavola, D., Vannucchi, G. M., Fallini, C., Persani, L., & Beck‐Peccoz, P. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021377 · Cited by 76 · see citing works
Miller, W. L. (2004) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2004.07.005 · Cited by 75 · see citing works
Self-citationCrisponi, G., PORCU, C., & PIU, M. E. (1997) · Clinical Dysmorphology · doi:10.1097/00019605-199701000-00011 · Cited by 65 · see citing works
Diagnostic Practice and the Estimated Prevalence of Craniosynostosis in Colorado
Alderman, B. W. (1997) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.1997.02170390049009 · Cited by 52 · see citing works
The syndrome of multisynostotic osteodysgenesis with long‐bone fractures
Delozier, C. D., Antley, R. M., Williams, R., Green, N., Heller, R. M., Bixler, D., Engel, E., & Optiz, J. M. (1980) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320070322 · Cited by 43 · see citing works
Pitfalls in the Etiological Diagnosis of Congenital Adrenal Hyperplasia in the Early Neonatal Period
PERETTI, E. D., & Forest, M. G. (2008) · Hormone Research · doi:10.1159/000179480 · Cited by 38 · see citing works
Cragun, D. L., Trumpy, S. K., Shackleton, C. H. L., Kelley, R. I., Leslie, N. D., Mulrooney, N. P., & Hopkin, R. J. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30170 · Cited by 37 · see citing works
Congenital adrenal hyperplasia
(1986) · New England Journal of Medicine · doi:10.1056/nejm198605153142015 · Cited by 36 · see citing works
POR R457H is a global founder mutation causing Antley–Bixler syndrome with autosomal recessive trait
Adachi, M., Asakura, Y., Matsuo, M., Yamamoto, T., Hanaki, K., & Arlt, W. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31112 · Cited by 34 · see citing works
O’Leary, K. A., Beck, T. W., & Kasper, C. B. (1994) · Archives of Biochemistry and Biophysics · doi:10.1006/abbi.1994.1192 · Cited by 29 · see citing works
Molecular Basis for Cell-Specific Regulation of the NADPH-Cytochrome P450 Oxidoreductase Gene
O’Leary, K. A., & Kasper, C. B. (2000) · Archives of Biochemistry and Biophysics · doi:10.1006/abbi.2000.1862 · Cited by 22 · see citing works
Transcriptional Regulation of the TATA-less NADPH Cytochrome P-450 Oxidoreductase Gene
O’Leary, K. A., McQuiddy, P., & Kasper, C. B. (1996) · Archives of Biochemistry and Biophysics · doi:10.1006/abbi.1996.0253 · Cited by 19 · see citing works
Flagged first, then by citations
1 of the 38 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
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
Self-citationDisorders of sex development: a new definition and classification
Hughes, I. A. (2008) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2007.11.001 · Cited by 440 · see citing works
Genetics of congenital adrenal hyperplasia
Krone, N., & Arlt, W. (2009) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2008.10.014 · Cited by 312 · see citing works
NADPH P450 oxidoreductase: Structure, function, and pathology of diseases
Pandey, A. V., & Flück, C. E. (2013) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2013.01.010 · Cited by 279 · see citing works
Huang, N., Agrawal, V., Giacomini, K. M., & Miller, W. L. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711621105 · Cited by 198 · see citing works
Self-citationModulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase
Pandey, A. V., Kempná, P., Hofer, G., Mullis, P. E., & Flück, C. E. (2007) · Molecular Endocrinology · doi:10.1210/me.2007-0245 · Cited by 132 · see citing works
de Jonge, H., Metalidis, C., Naesens, M., Lambrechts, D., & Kuypers, D. R. J. (2011) · Pharmacogenomics · doi:10.2217/pgs.11.77 · Cited by 130 · see citing works
Fukami, M., Nishimura, G., Homma, K., Nagai, T., Hanaki, K., Uematsu, A., Ishii, T., Numakura, C., Sawada, H., Nakacho, M., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-2816 · Cited by 117 · see citing works
Agrawal, V., Huang, N., & Miller, W. L. (2008) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0b013e32830054ac · Cited by 117 · see citing works
Self-citationGenetic and clinical features of P450 oxidoreductase deficiency
Scott, R. R., & Miller, W. L. (2008) · Hormone Research in Paediatrics · doi:10.1159/000114857 · Cited by 115 · see citing works
Self-citationOneda, B., Crettol, S., Sirot, E. J., Bochud, M., Ansermot, N., & Eap, C. B. (2009) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0b013e32833225e7 · Cited by 115 · see citing works
Disorders of sex development: effect of molecular diagnostics
Achermann, J. C., Domenice, S., Bachega, T. A. S. S., Nishi, M. Y., & Mendonca, B. B. (2015) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2015.69 · Cited by 108 · see citing works
Consequences of POR mutations and polymorphisms
Miller, W. L., Agrawal, V., Sandee, D., Tee, M. K., Huang, N., Choi, J. H., Morrissey, K., & Giacomini, K. M. (2011) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2010.10.022 · Cited by 88 · see citing works
Self-citationClinical, genetic and enzymatic characterization of P450 oxidoreductase deficiency in four patients
Sahakitrungruang, T., Huang, N., Tee, M. K., Agrawal, V., Russell, W. E., Crock, P., Murphy, N., Migeon, C. J., & Miller, W. L. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-1460 · Cited by 82 · see citing works
Self-citationP450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms
Burkhard, F. Z., Parween, S., Udhane, S. S., Flück, C. E., & Pandey, A. V. (2017) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.04.003 · Cited by 79 · see citing works
Effects of genetic variants of human P450 oxidoreductase on catalysis by CYP2D6 in vitro
Sandee, D., Morrissey, K., Agrawal, V., Tam, H. K., Kramer, M. A., Tracy, T. S., Giacomini, K. M., & Miller, W. L. (2010) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0b013e32833f4f9b · Cited by 74 · see citing works
Self-citationTardy, V., Menassa, R., Sulmont, V., Lienhardt-Roussie, A., Lecointre, C., Brauner, R., David, M., & Morel, Y. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-1202 · Cited by 73 · see citing works
Puberty and its disorders in the female
Rosenfield, R. L., Cooke, D. W., & Radovick, S. (2014) · Elsevier eBooks · doi:10.1016/b978-1-4557-4858-7.00024-x · Cited by 67 · see citing works
Nonclassic adrenal hyperplasia
Speiser, P. (2008) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-008-9097-x · Cited by 62 · see citing works
Baronio, F., Ortolano, R., Menabò, S., Cassio, A., Baldazzi, L., Natale, V. D., Tonti, G., Vestrucci, B., & Balsamo, A. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20184605 · Cited by 59 · see citing works
P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia
Flück, C. E., & Miller, W. L. (2006) · Current Opinion in Pediatrics · doi:10.1097/01.mop.0000236395.71956.5c · Cited by 57 · see citing works
Self-citationFukami, M., & Ogata, T. (2014) · Pediatrics International · doi:10.1111/ped.12518 · Cited by 57 · see citing works
Flück, C. E., Nicolo, C., & Pandey, A. V. (2007) · Fundamental and Clinical Pharmacology · doi:10.1111/j.1472-8206.2007.00520.x · Cited by 54 · see citing works
Genetic variation in human P450 oxidoreductase
Miller, W. L., Huang, N., Agrawal, V., & Giacomini, K. M. (2009) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2008.09.017 · Cited by 54 · see citing works
Self-citationImpact of Molecular Genetics on Congenital Adrenal Hyperplasia Management
Balsamo, A., Baldazzi, L., Menabò, S., & Cicognani, A. (2010) · Sexual Development · doi:10.1159/000315959 · Cited by 54 · see citing works
Hayashi, G. Y., Carvalho, D. F., de Miranda, M. C., Faure, C., Vallejos, C., Brito, V. N., Rodrigues, A. D. S., Madureira, G., Mendonca, B. B., & Bachega, T. A. S. S. (2017) · Clinical Endocrinology · doi:10.1111/cen.13292 · Cited by 52 · see citing works
The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency
Gomes, L. G., Huang, N., Agrawal, V., Mendonça, B. B., Bachega, T. A. S. S., & Miller, W. L. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0304 · Cited by 52 · see citing works
Self-citationClinical and Biochemical Consequences of P450 Oxidoreductase Deficiency
Flück, C. E., & Pandey, A. V. (2010) · Endocrine development · doi:10.1159/000321221 · Cited by 50 · see citing works
Tee, M. K., Huang, N., Damm, I., & Miller, W. L. (2011) · Molecular Endocrinology · doi:10.1210/me.2010-0236 · Cited by 46 · see citing works
Self-citationDean, B., Chrisp, G. L., Quartararo, M., Maguire, A. M., Hameed, S., King, B. R., Munns, C. F., Torpy, D. J., Falhammar, H., & Rushworth, R. L. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz255 · Cited by 43 · see citing works
Puberty and Its Disorders in the Female
Rosenfield, R. L., Cooke, D. W., & Radovick, S. (2008) · Elsevier eBooks · doi:10.1016/b978-141604090-3.50019-3 · Cited by 44 · see citing works
Yang, G., Fu, Z.-M., Chen, X., Yuan, H., Yang, H., Huang, Y., Ouyang, D., Tan, Z.-R., Tan, H., Huang, Z., et al. (2011) · Clinical Therapeutics · doi:10.1016/j.clinthera.2011.11.004 · Cited by 42 · see citing works
Diagnosis and Treatment of Disorders of Sexual Development
Rey, R. A., & Josso, N. (2015) · Elsevier eBooks · doi:10.1016/b978-0-323-18907-1.00119-0 · Cited by 40 · see citing works
Yazawa, T., Imamichi, Y., Sekiguchi, T., Miyamoto, K., Uwada, J., Khan, M. R. I., Suzuki, N., Umezawa, A., & Taniguchi, T. (2019) · BioMed Research International · doi:10.1155/2019/8973076 · Cited by 38 · see citing works
Bai, Y., Li, J., & Wang, X. (2017) · Journal of Ovarian Research · doi:10.1186/s13048-017-0312-9 · Cited by 34 · see citing works
Cytochrome P450 Oxidoreductase Deficiency
Idkowiak, J., Cragun, D. L., Hopkin, R. J., & Arlt, W. (2009) · University of Washington, Seattle eBooks · Cited by 33 · see citing works
Polymorphisms in cytochrome P450 oxidoreductase and its effect on drug metabolism and efficacy
Gong, L., Zhang, C., Lv, J., Zhou, H., & Fan, L. (2017) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0000000000000297 · Cited by 32 · see citing works
Silveira, E., Elnecave, R., Dos Santos, E., Moura, V, Pinto, E., Van Der Linden Nader, I., Mendonca, B., & Bachega, T. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01274.x · Cited by 31 · see citing works
Miller, W. L. (2012) · Science Signaling · doi:10.1126/scisignal.2003318 · Cited by 30 · see citing works
Self-citationParween, S., Fernández‐Cancio, M., Benito‐Sanz, S., Camats, N., Velazquez, M. N. R., López‐Siguero, J., Udhane, S. S., Kagawa, N., Flück, C. E., Audı́, L., et al. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa076 · Cited by 27 · see citing works
Parween, S., Velazquez, M. N. R., Udhane, S. S., Kagawa, N., & Pandey, A. V. (2019) · Frontiers in Pharmacology · doi:10.3389/fphar.2019.01187 · Cited by 24 · see citing works
Song, T., Wang, B., Chen, H., Zhu, J., & Sun, H. (2017) · Gynecological Endocrinology · doi:10.1080/09513590.2017.1393663 · Cited by 24 · see citing works
Soneda, S., Yazawa, T., Fukami, M., Adachi, M., Mizota, M., Fujieda, K., Miyamoto, K., & Ogata, T. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-1337 · Cited by 23 · see citing works
Fan, L., Ren, X., Song, Y., Su, C., Fu, J., & Gong, C. (2019) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-019-1283-2 · Cited by 22 · see citing works
Functional POR A503V is associated with the risk of bladder cancer in a Chinese population
Xiao, X., Ma, G., Li, S., Wang, M., Liu, N., Ma, L., Zhang, Z., Chu, H., Zhang, Z., & Wang, S. (2015) · Scientific Reports · doi:10.1038/srep11751 · Cited by 22 · see citing works
Aguilar, A., Wu, S., & De Luca, F. (2009) · Endocrinology · doi:10.1210/en.2009-0043 · Cited by 21 · see citing works
Öçal, G., Berberoğlu, M., Şıklar, Z., Aycan, Z., Hacıhamdioğlu, B., Erdeve, Ş. S., Çamtosun, E., Kocaay, P., Ruhi, H. I., Kılıç, B. G., et al. (2014) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2014.01.106 · Cited by 21 · see citing works
Guaragna‐Filho, G., Castro, C. C. T. D. S., Carvalho, R. R. D., Coeli, F. B., Ferraz, L. F. C., Petroli, R. J., de Mello, M. P., SEWAYBRICKER, L. E., de Lemos‐Marini, S. H. V., D’Souza-Li, L. F. R., et al. (2012) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302012000800020 · Cited by 18 · see citing works
Zhang, T., Li, Z., Ren, X., Huang, B., Zhu, G., Yang, W., & Jin, L. (2020) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-020-01899-z · Cited by 18 · see citing works
Tomková, M., Marohnic, C. C., Gurwitz, D., Šeda, O., Masters, B. S. S., & Pavel Martasek, E. (2012) · Pharmacogenomics · doi:10.2217/pgs.12.21 · Cited by 17 · see citing works
Coeli‐Lacchini, F. B., Turatti, W., Elias, P. C. L., Elias, L. L. K., Martinelli, C. E., Moreira, A. C., Antonini, S. R. R., & de Castro, M. (2013) · Gene · doi:10.1016/j.gene.2013.03.082 · Cited by 17 · see citing works
Ng, J. L., Lim, E. M., Zhang, R., Beilby, J. P., Watts, G. F., Brown, S. J., & Stuckey, B. G. A. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad377 · Cited by 14 · see citing works
Velazquez, M. N. R., Therkelsen, S., & Pandey, A. V. (2023) · Biomolecules · doi:10.3390/biom13121728 · Cited by 12 · see citing works
Huang, K., Liao, X., Han, C., Wang, X., Yu, T., Yang, C., Liu, X., Yu, L., Chen, Z., Qin, W., et al. (2019) · Journal of Cancer · doi:10.7150/jca.28919 · Cited by 13 · see citing works
Tzetis, M., Konstantinidou, A. E., Sofocleous, C., Kosma, K., Mitrakos, A. K., Tzannatos, C. A., & Kitsiou‐Tzeli, S. (2016) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.23492 · Cited by 14 · see citing works
Wang, C., & Tian, Q. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1226387 · Cited by 11 · see citing works
Inaoka, Y., Yazawa, T., Mizutani, T., Kokame, K., Kangawa, K., Uesaka, M., Umezawa, A., & Miyamoto, K. (2008) · Reproductive Biology and Endocrinology · doi:10.1186/1477-7827-6-62 · Cited by 10 · see citing works
P450 Oxidoreductase Deficiency (PORD)
Flück, C. E., & Pandey, A. V. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-416006-4.00010-7 · Cited by 7 · see citing works
Diagnosis and Treatment of Disorders of Sexual Development
Rey, R. A., Josso, N., & Forest, M. G. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4160-5583-9.00119-2 · Cited by 6 · see citing works
POR polymorphisms are associated with 21 hydroxylase deficiency
Giraldi, F. P., Einaudi, S., Sesta, A., Verna, F., Messina, M., Manieri, C., Menegatti, E., & Ghizzoni, L. (2021) · Journal of Endocrinological Investigation · doi:10.1007/s40618-021-01527-2 · Cited by 5 · see citing works
Genetic Variations in NADPH-CYP450 Oxidoreductase in a Czech Slavic Cohort
Tomková, M., Panda, S. P., Šeda, O., Baxová, A., Hůlková, M., Masters, B. S. S., & Pavel Martasek, E. (2015) · Pharmacogenomics · doi:10.2217/pgs.14.169 · Cited by 5 · see citing works
The Principles, Enzymes, and Pathways of Human Steroidogenesis
Auchus, R. J., & Miller, W. L. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4160-5583-9.00096-4 · Cited by 5 · see citing works
Self-citationZhang, D., 姚凤霞, Luo, M., Deng, S., & Tian, Q. (2025) · Reproductive Sciences · doi:10.1007/s43032-025-01878-8 · Cited by 2 · see citing works
A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile
Velazquez, M. N. R., Dacal, J. L., Jørgensen, F. S., Sanguineti, N., Sharma, K., Marino, R. M., Garrido, N. P., Vaiani, E., Ramírez, P., Scaglia, P. A., et al. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaf630 · Cited by 2 · see citing works
The Principles, Enzymes, and Pathways of Human Steroidogenesis
Auchus, R. J., & Miller, W. L. (2015) · Elsevier eBooks · doi:10.1016/b978-0-323-18907-1.00097-4 · Cited by 2 · see citing works
Self-citationP450 oxidoreductase deficiency
Flück, C. E., Velazquez, M. N. R., & Pandey, A. V. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-821424-4.00012-5 · Cited by 3 · see citing works
Li, H., Li, S., Wang, Q., & Jia, C. (2016) · Human Genetics · doi:10.1007/s00439-016-1728-9 · Cited by 1 · see citing works
Silveira, E. L. (2008) · Americanae (AECID Library) · Cited by 1 · see citing works
Gomes, L. G. (2009) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2009.tde-09122009-152831
Self-citationAnálise de genes moduladores do fenótipo da forma não clássica da deficiência da 21-hidroxilase
Moura, V. O. (2011) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.5.2011.tde-25082011-153332
Bosco, D. D., Rajalakshmi, K. V., Suganya, S., Pavani, P., & Yaswanth, K. V. S. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/590067
Dean, B. W., Chrisp, G. L., Quartararo, M., Maguire, A. M., Hameed, S. S., Br, K., Munns, C. F., Torpy, D. J., Falhammar, H., & Rushworth, R. L. (2020) · Yearbook of pediatric endocrinology · doi:10.1530/ey.17.8.21 · Cited by 1 · see citing works
de Miranda, M. C. (2020) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2020.tde-29102020-162042
(2008) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0b013e3283040e80
Parental Factors related to Development of Non-Syndromic Craniosynostosis in their ChildrenPreprint
Webb, T., O’Brien, P., Orndahl, C. M., Rhodes, J. L., Navarrete, R. O., & Ritter, A. M. (2022) · Research Square · doi:10.21203/rs.3.rs-1784870/v1
Human P450 oxidoreductase deficiency
Pandey, A. V., Barata, I. S., & Flück, C. E. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00259-4
Wang, X. D., Yuan, Z., Qin, M., Cheng, M., Cao, B., & Gong, C. X. (2026) · Hormone Research in Paediatrics · doi:10.1159/000551139
Zhang, X. J., Zhou, F. Y., XU, X., Wang, C., Qian, Y., Gong, C. Y., Sheng, W., Shu, J., Cai, C. Q., & Zhang, M. Y. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1807069
Mugari, M. (2015) · SUNScholar (Stellenbosch University)
- Authors
- Scott, R. R., Gomes, L. G., Huang, N., Van Vliet, G., & Miller, W. L.
- Affiliations
- University of California, San Francisco (US)
- Endocrinology Service and Research Center (R.R.S., G.V.V.), Sainte-Justine Hospital, and Department of Pediatrics, University of Montreal, Montreal, Canada H3T 1C5
- Corresponding author
- Miller, Walter L.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2007-06-01
- Volume
- 92
- Issue
- 6
- Pages
- 2318-2322
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W1964538959
- Cited by
- 79
- References
- 38
- Citations by year
- 2026: 2 · 2025: 3 · 2023: 4 · 2022: 1 · 2021: 1 · 2020: 4 · 2019: 7 · 2017: 3 · 2016: 4 · 2015: 6 · 2014: 3 · 2013: 3 · 2012: 3
- FWCI
- 3.71
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- National Institute of General Medical Sciences (GM073020, R01GM073020)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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
- P450 oxidoreductase deficiency, 21-hydroxylase deficiency, Antley-Bixler syndrome, craniosynostosis, salt wasting, 17-hydroxyprogesterone, FGFR2, congenital adrenal hyperplasia, neonates
- MeSH terms
- Adrenal Hyperplasia, Congenital, Base Sequence, Craniosynostoses, Exons, Female, Heterozygote, Humans, Infant, Newborn, Introns, Molecular Sequence Data, NADPH-Ferrihemoprotein Reductase, Steroid 21-Hydroxylase, Genetic Variation
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