ArticleThe Journal of clinical endocrinology and metabolism2013
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
Article in The Journal of clinical endocrinology and metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 67 citations in OpenAlex.
- Article
- A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile.The Journal of clinical endocrinology and metabolism · 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
- In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.Molecules (Basel, Switzerland) · 2022Article
- 46,XX DSD: Developmental, Clinical and Genetic Aspects.Diagnostics (Basel, Switzerland) · 2021Review
- Reply to Flück et al.: Alternative androgen pathway biosynthesis drives fetal female virilization in P450 oxidoreductase deficiency.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism.Endocrine reviews · 2019Article
- Alternative pathway androgen biosynthesis and human fetal female virilization.Proceedings of the National Academy of Sciences of the United States of America · 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
- Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.Molecular diagnosis & therapy · 2017Article
- Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency.Archives of endocrinology and metabolism · 2016Article
- The Regulation of Steroid Action by Sulfation and Desulfation.Endocrine reviews · 2015Review
- Gestation-specific reference intervals for comprehensive spot urinary steroid hormone metabolite analysis in normal singleton pregnancy and 6 weeks postpartum.Reproductive biology and endocrinology : RB&E · 2015Observational
- The pitfalls associated with urinary steroid metabolite ratios in children undergoing investigations for suspected disorders of steroid synthesis.International journal of pediatric endocrinology · 2015Article
- Cytochrome P450 Oxidoreductase Deficiency: Novel Cause of Ambiguity with Primary Amenorrhea.Indian journal of endocrinology and metabolismArticle
Corrections and comments
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Authors and funding
14 authors at 7 institutions in 3 countries.
Funding
Abstract
contextMutations in the electron donor enzyme P450 oxidoreductase (POR) result in congenital adrenal hyperplasia with apparent combined 17α-hydroxylase/17,20 lyase and 21-hydroxylase deficiencies, also termed P450 oxidoreductase deficiency (PORD). Major clinical features present in PORD are disordered sex development in affected individuals of both sexes, glucocorticoid deficiency, and multiple skeletal malformations.
objectiveThe objective of the study was to establish a noninvasive approach to prenatal diagnosis of PORD including assessment of malformation severity to facilitate optimized prenatal diagnosis and timely treatment.
designWe analyzed 20 pregnancies with children homozygous or compound heterozygous for disease-causing POR mutations and 1 pregnancy with a child carrying a heterozygous POR mutation by recording clinical and biochemical presentations and fetal ultrasound findings. In 4 of the pregnancies (3 homozygous and 1 heterozygous for disease-causing POR mutations), prenatal analysis of steroid metabolite excretion in maternal urine was carried out by gas chromatography/mass spectrometry during gestational weeks 11-23.
resultsPregnancy complications in our cohort included maternal virilization (6 of 20) with onset in the second trimester. Seven pregnant women presented with low unconjugated estriol at prenatal screening (triple or quadruple antenatal screening test). Overt dysmorphic features were noted in 19 of the 20 babies at birth but observed in only 5 by prenatal ultrasound. These 5 had the most severe malformation phenotypes and poor outcome, whereas the other babies showed normal development. Steroid profiling of maternal urine revealed significantly increased steroids of fetal origin, namely the pregnenolone metabolite epiallopregnanediol and the androgen metabolite androsterone, with concomitant low values for estriol. Diagnostic steroid ratios conclusively indicated PORD as early as gestational week 12. In the heterozygous pregnancy, steroid ratios were only slightly elevated and estriol excretion was normal.
conclusionPrenatal diagnosis in PORD is readily established via urinary steroid metabolite analysis of maternal urine. Visible malformations at prenatal ultrasound predict a severe malformation phenotype.
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