Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan
Open accessAbstract
Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis that causes various symptoms such as skeletal malformations, disorders of sex development, and adrenal insufficiency. The aim of this study was to elucidate the clinical characteristics, especially age at diagnosis and treatment, of PORD from the perinatal period to adulthood in Japan. The first questionnaire was sent to 183 council members of the Japanese Society for Pediatric Endocrinology on 1 September 2018. The response rate was 65%, and a total of 39 patients with PORD were examined at 20 hospitals. The second questionnaire was sent in November 2018 to the council members examining these 39 patients with PORD. The response rate was 77%, and we received clinical information on 30 of the 39 patients. The two novel clinical findings were the age at diagnosis and the treatment of Japanese patients with PORD. In many cases, PORD can be diagnosed at <3 months of age. Hydrocortisone as the primary treatment during infancy can be used daily or in stressful situations; however, because patients with PORD generally have mild to moderate adrenal insufficiency, some might be able to avoid hydrocortisone treatment. Patients with PORD should be carefully followed up, and treatment should be optimized as for patients with other types of adrenal insufficiency. Other characteristics in the present study were similar to those described in previous reports.
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More than 200 distinct mutations and single-nucleotide polymorphisms in the POR gene have been documented, encompassing missense, nonsense, insertion, deletion, duplication, and splice-site mutations, in addition to submicroscopic deletions affecting one or more exons.
“To date, more than 200 distinct mutations and single-nucleotide polymorphisms (SNPs) in the POR gene have been documented, encompassing missense, nonsense, insertion, deletion, duplication, and splice-site mutations, in addition to submicroscopic deletions affecting one or more exons (67).”
From Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review (2026) · cites this paper as [67]
Cites
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 · cited 1× · see citing works
“Because the POR gene encodes an electron donor for all microsomal cytochrome P450 enzymes and several non-cytochrome P450 microsomal enzymes [1, 2], POR gene variation”
BackgroundSelf-citationGenotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
Krone, N., Reisch, N., Idkowiak, J., Dhir, V., Ivison, H. E., Hughes, B. A., Rose, I. T., O'Neil, D. M., Vijzelaar, R., Smith, M. J., et al. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-0640 · Cited by 163 · cited 3× · see citing works
“The POR R457H variation was once thought to be isolated to the Japanese population, but this variation has since been reported in Europeans and those of other ethnicities [5].”
BackgroundCongenital adrenal hyperplasia and P450 oxidoreductase deficiency
Krone, N., Dhir, V., Ivison, H. E., & Arlt, W. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2006.02740.x · Cited by 131 · see citing works
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency
Reisch, N., Idkowiak, J., Hughes, B. A., Ivison, H. E., Abdul-Rahman, O. A., Hendon, L. G., Olney, A. H., Nielsen, S., Harrison, R., Blair, E. M., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-3449 · Cited by 67 · see citing works
Bonamichi, B. D. S. F., Santiago, S. L. M., Bertola, D. R., Kim, C. A., Alonso, N., Mendonca, B. B., Bachega, T. A. S. S., & Gomes, L. G. (2016) · Archives of Endocrinology and Metabolism · doi:10.1590/2359-3997000000213 · Cited by 19 · see citing works
Koyama, Y., Homma, K., Fukami, M., Miwa, M., Ikeda, K., Ogata, T., Murata, M., & Hasegawa, T. (2016) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.25.37 · Cited by 13 · see citing works
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Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
Zhang, J., Woo, K. L., Hai, Y., Wang, S., Lin, Y., Huang, Y., Peng, X., Wu, H., Zhang, S., Yan, L., et al. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1020880 · Cited by 10 · see citing works
Zhang, C., Zhao, Z., Du, Y., Huang, Q., Liu, Y., Fu, G., & Xu, J. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1791297
- Authors
- Yatsuga, S., Amano, N., Nakamura-Utsunomiya, A., Kobayashi, H., Takasawa, K., Nagasaki, K., Nakamura, A., Nishigaki, S., Numakura, C., Fujiwara, I., Minamitani, K., Hasegawa, T., & Tajima, T.
- Affiliations
- Kurume University (JP)
- Keio University (JP)
- Department of Pediatrics, Hiroshima University, Hiroshima 734-8553, Japan
- Shimane University (JP)
- Tokyo Medical and Dental University (JP)
- Niigata University Medical and Dental Hospital (JP)
- Hokkaido University (JP)
- Osaka City University (JP)
- Yamagata University (JP)
- Tohoku University (JP)
- Teikyo University Chiba Medical Center (JP)
- Jichi Medical University (JP)
- ORCID
- Venue
- Endocrine Journal
- Publisher
- Japan Endocrine Society
- Published
- 2020
- Volume
- 67
- Issue
- 8
- Pages
- 853-857
- ISSN
- 0918-8959 (ISSN-L)
- 1348-4540
- OpenAlex
- W3019678048
- Cited by
- 9
- References
- 6
- Citations by year
- 2026: 3 · 2025: 2 · 2023: 1 · 2022: 1 · 2021: 1 · 2020: 1
- FWCI
- 0.76
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Locations
- Endocrine Journal (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- steroidogenesis disorders, adrenal insufficiency, age at diagnosis, disorders of sex development, skeletal deformities, pediatric endocrinology
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Japan, Male, Middle Aged, Pregnancy, Surveys and Questionnaires, Age of Onset, Antley-Bixler Syndrome Phenotype, Young Adult
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