Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan-Reference-Cited by-同舟云学术

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Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan

Published:2020 Issue:8 Volume:67 Page:853-857
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Yatsuga Shuichi¹,Amano Naoko²,Nakamura-Utsunomiya Akari³,Kobayashi Hironori⁴,Takasawa Kei⁵,Nagasaki Keisuke⁶,Nakamura Akie⁷,Nishigaki Satsuki⁸,Numakura Chikahiko⁹,Fujiwara Ikuma¹⁰,Minamitani Kanshi¹¹,Hasegawa Tomonobu²,Tajima Toshihiro¹²

Affiliation:

1. Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka 830-0011, Japan

2. Department of Pediatrics, Keio University, Tokyo 160-8582, Japan

3. Department of Pediatrics, Hiroshima University, Hiroshima 734-8553, Japan

4. Department of Pediatrics, Shimane University, Shimane 693-0021, Japan

5. Department of Pediatrics, Tokyo Medical and Dental University, Tokyo 113-8510, Japan

6. Department of Pediatrics, Niigata University Medical & Dental Hospital, Niigata 951-8122, Japan

7. Department of Pediatrics, Hokkaido University, Hokkaido 060-8638, Japan

8. Department of Pediatrics, Osaka City University, Osaka 545-8585, Japan

9. Department of Pediatrics, Yamagata University, Yamagata 990-9585, Japan

10. Department of Pediatrics, Tohoku University, Miyagi 980-8575, Japan

11. Department of Pediatrics, Teikyo University Chiba Medical Center, Chiba 299-0111, Japan

12. Department of Pediatrics, Jichi Medical University, Tochigi 329-0498, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/67/8/67_EJ20-0011/_pdf

Reference15 articles.

1. 1 Krone N, Dhir V, Ivison HE, Arlt W (2007) Congenital adrenal hyperplasia and P450 oxidoreductase deficiency. Clin Endocrinol (Oxf) 66: 162–172.

2. 2 Fluck CE, Tajima T, Pandey AV, Arlt W, Okuhara K, et al. (2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 36: 228–230.

3. 3 Bai Y, Li J, Wang X (2017) Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review. J Ovarian Res 10: 16.

4. 4 Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, et al. (2009) Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. J Clin Endocrinol Metab 94: 1723–1731.

5. 5 Krone N, Reisch N, Idkowiak J, Dhir V, Ivison HE, et al. (2012) Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. J Clin Endocrinol Metab 97: E257–E267.

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1. Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype;Frontiers in Endocrinology;2023-08-11

2. Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency;Frontiers in Endocrinology;2022-11-28

3. Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46 XX Patients;2022-11-03

4. Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement;Congenital Anomalies;2021-06-29

5. Disorders of Sex Development: Classification, Review, and Impact on Fertility;Journal of Clinical Medicine;2020-11-04

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