Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review
Open accessAbstract
BACKGROUND: Cytochrome P450 oxidoreductase deficiency (PORD) is a rare disease exhibiting a variety of clinical manifestations. It can be difficult to differentiate with other diseases such as 21-hydroxylase deficiency (21-OHD), polycystic ovary syndrome (PCOS) and Antley-Bixler syndrome (ABS). Nearly 100 cases of PORD have been reported worldwide. However, the genetic characters and clinical management are still unclear, especially in China. CASE PRESENTATION: In this study, we report a 27-year-old female Chinese patient who first presented with amenorrhea and recurrence of large ovary cyst. She was misdiagnosed with PCOS and non-classical 21-OHD due to ovary cysts and elevated 17-hydroxy-progesterone. The patient's complaining of a mild difficulty of bending the metacarpophalangeal joints reminded us to consider PORD, which usually presents with skeletal deformities and sexual dysfunction. The diagnosis of PORD was confirmed by genetic analyses, which showed the patient harboring a homozygous missense mutation in the POR gene (R457H) and her parents carrying the heterozygous mutation. The patient was treated with low-dose corticosteroids and estrogen/progesterone sequential therapy, and her ovarian cyst gradually reduced with regular menstruation in the follow-up. Moreover, the clinical and genetic characteristics of 104 previously reported PORD cases were also summarized and analyzed. CONCLUSIONS: PORD is a very rare disease which can be easily misdiagnosed in mild cases. Clinicians should keep in mind of this disease in patients with sexual dysfunction, especially combined with special skeletal deformities. Our data could provide a consciously understanding of this disease for clinic practicers. Low-dose corticosteroids combined with estrogen/progesterone sequential therapy will be effective in PORD patients with recurrence of large ovary cyst. The fact that the reported PORD patients in China carrying an identical variant R457H in POR gene also give us a viewpoint that R457H mutation in POR gene maybe important in causing PORD in Chinese as same as in Japanese.
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POR transfers electrons from NADPH to more than 50 microsomal CYP enzymes.
“It transfers electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to more than 50 microsomal cytochrome P450 (CYP) enzymes (4–6).”
From Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review (2026) · cites this paper as [4]
The Background (page not specified) states that POR transfers electrons from NADPH to cytochrome P450 enzymes. It does not state that the recipient enzymes number more than 50, so the numerical part of the claim is unsupported by this copy. (LLM, conf=0.87)
Experimental — accuracy not yet measuredThe POR protein comprises 680 amino acids and functions as an essential electron donor.
“The cytochrome P450 oxidoreductase (POR) protein, comprising 680 amino acids, functions as an essential electron donor.”
From Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review (2026) · cites this paper as [4]
The Background states that POR transfers electrons from NADPH to cytochrome P450 enzymes, and its figure caption says POR donates electrons to all P450 enzymes. Neither that passage nor the passages retrieved for “680 amino acids” and protein length gives POR’s amino-acid count, so the 680-amino-acid detail is unsupported by our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measuredIn male PORD patients, deficient fetal testosterone production leads to undervirilization at birth, commonly presenting as micropenis or hypospadias, and occasionally cryptorchidism.
“In male patients, deficient fetal testosterone production leads to undervirilization at birth, commonly presenting as micropenis or hypospadias, and occasionally cryptorchidism (4).”
From Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review (2026) · cites this paper as [4]
The Discussion (page unavailable) links ambiguous genitalia in PORD to impaired testosterone and dihydrotestosterone synthesis. It does not specify male fetal testosterone deficiency or identify micropenis, hypospadias, or cryptorchidism as presentations, so the male-specific details are unsupported by our copy. (LLM, conf=0.85)
Experimental — accuracy not yet measuredIn PORD, impaired function of enzymes such as CYP17A1, CYP19A1, and CYP21A2 disrupts the synthesis of testosterone and dihydrotestosterone, as well as the conversion of androgens to estrogens, resulting in a spectrum of genital anomalies.
“In PORD, impaired function of enzymes such as CYP17A1, CYP19A1, and CYP21A2 disrupts the synthesis of testosterone and dihydrotestosterone, as well as the conversion of androgens to estrogens, resulting in a spectrum of genital anomalies (4, 32, 34, 59).”
From Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review (2026) · cites this paper as [4]
In the study by Bai Y et al., approximately 74.6% of PORD patients showed an insufficient cortisol response during the ACTH stimulation test, indicating compromised adrenal reserve.
“In the study by Bai Y et al., approximately 74.6% of PORD patients showed an insufficient cortisol response during the ACTH stimulation test, indicating compromised adrenal reserve (4).”
From Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review (2026) · cites this paper as [4]
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References 35 · Cited by 34
- Authors
- Bai, Y., Li, J., & Wang, X.
- Affiliations
- First Hospital of China Medical University (CN)
- Corresponding author
- Wang, Xiaoli
- ORCID
- Wang, Xiaoli
- Venue
- Journal of Ovarian Research
- Published
- 2017-03-14
- Volume
- 10
- Issue
- 1
- Pages
- 16-16
- ISSN
- 1757-2215 (ISSN-L)
- PMC
- PMC5348910
- OpenAlex
- W2596593493
- Cited by
- 34
- References
- 35
- Citations by year
- 2026: 6 · 2025: 5 · 2023: 6 · 2022: 4 · 2021: 2 · 2020: 7 · 2019: 2 · 2018: 2
- FWCI
- 1.23
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Journal of Ovarian Research (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- 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
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- POR gene, missense mutations, 21-hydroxylase deficiency, polycystic ovary syndrome, Antley-Bixler syndrome, differential diagnosis, amenorrhea, ovarian cysts, low-dose corticosteroids, skeletal deformities, Chinese patients
- MeSH terms
- Adult, Bone and Bones, Codon, Combined Modality Therapy, Cytochrome P-450 Enzyme System, DNA Mutational Analysis, Female, Humans, Mutation, Pedigree, Phenotype, Tomography, X-Ray Computed, Ultrasonography, Biomarkers, Treatment Outcome, Amino Acid Substitution, Antley-Bixler Syndrome Phenotype
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