ArticleEuropean journal of endocrinology2010
Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Article in European journal of endocrinology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 3 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 3 syntheses or guidelines pooled it, 75 citations in OpenAlex.
- Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review.Frontiers in endocrinology · 2026Pooled it
- Genetic susceptibility to caffeine intake and metabolism: a systematic review.Journal of translational medicine · 2024Pooled it
- Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature.Journal of endocrinological investigation · 2023Pooled it
- Clinical and genetic spectrum of cytochrome P450 oxidoreductase deficiency in Chinese patients.Endocrine connections · 2026Article
- The Role of Cytochrome P450 Holoenzyme Metabolism in the Origin of Neuropathologies.International journal of molecular sciences · 2026Review
- Nitroxide spin, non-canonical amino acids and SDSL-EPR spectroscopy: a winning combination for protein dynamics studies.European biophysics journal : EBJ · 2026Article
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Computational Study on Potentially Active Antibacterial Compounds in Secondary Metabolites of Extremophilic Microorganisms.ChemistryOpen · 2026Article
- Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype.Frontiers in endocrinology · 2023Review
- Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.Endocrine reviews · 2022Review
- Effects of Diminished NADPH:cytochrome P450 Reductase in Human Hepatocytes on Lipid and Bile Acid Homeostasis.Frontiers in pharmacology · 2021Article
- Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension.BMJ case reports · 2020Article
- Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.Annals of pediatric endocrinology & metabolism · 2020Article
- Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration.Nature communications · 2020Article
- Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.Orphanet journal of rare diseases · 2019Article
- Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism.Endocrine reviews · 2019Article
- 46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.International journal of molecular sciences · 2019Review
- Monogenic Disorders of Adrenal Steroidogenesis.Hormone research in paediatrics · 2018Review
- Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.Journal of ovarian research · 2017Review
- Influence of genetic polymorphisms in cytochrome P450 oxidoreductase on the variability in stable warfarin maintenance dose in Han Chinese.European journal of clinical pharmacology · 2016Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
Abstract
objectivePatients with congenital adrenal hyperplasia due to P450 oxidoreductase (POR) deficiency (ORD) present with disordered sex development and glucocorticoid deficiency. This is due to disruption of electron transfer from mutant POR to microsomal cytochrome P450 (CYP) enzymes that play a key role in glucocorticoid and sex steroid synthesis. POR also transfers electrons to all major drug-metabolizing CYP enzymes, including CYP3A4 that inactivates glucocorticoid and oestrogens. However, whether ORD results in impairment of in vivo drug metabolism has never been studied.
designWe studied an adult patient with ORD due to homozygous POR A287P, the most frequent POR mutation in Caucasians, and her clinically unaffected, heterozygous mother. The patient had received standard dose oestrogen replacement from 17 until 37 years of age when it was stopped after she developed breast cancer.
methodsBoth subjects underwent in vivo cocktail phenotyping comprising the oral administration of caffeine, tolbutamide, omeprazole, dextromethorphan hydrobromide and midazolam to assess the five major drug-metabolizing CYP enzymes. We also performed genotyping for variant CYP alleles known to affect drug metabolism.
resultsThough CYP enzyme genotyping predicted normal or high enzymatic activities in both subjects, in vivo assessment showed subnormal activities of CYP1A2, CYP2C9, CYP2D6 and CYP3A4 in the patient and of CYP1A2 and CYP2C9 in her mother.
conclusionsOur results provide in vivo evidence for an important role of POR in regulating drug metabolism and detoxification. In patients with ORD, in vivo assessment of drug-metabolizing activities with subsequent tailoring of drug therapy and steroid replacement should be considered.
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