Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency
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CONTEXT: Mutations 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. OBJECTIVE: The 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. DESIGN: We 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. RESULTS: Pregnancy 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. CONCLUSION: Prenatal 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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Premature, stressed, or ill infants could have falsely elevated 17OHP; specificity is improved with gestational age stratification.
“Premature, stressed, or ill infants could have falsely elevated 17OHP; specificity is improved with gestational age stratification.60”
From Congenital adrenal hyperplasia (2017) · cites this paper as [60]
Prenatal diagnosis of PORD at midpregnancy is straightforward.
“Prenatal diagnosis at midpregnancy is straightforward (50, 51).”
From Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism (2019) · cites this paper as [51]
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Reisch, N., Taylor, A. E., Nogueira, E., Asby, D. J., Dhir, V., Berry, A. A., Krone, N. P., Auchus, R. J., Shackleton, C. H. L., Hanley, N. A., et al. (2020) · Yearbook of pediatric endocrinology · doi:10.1530/ey.17.8.7
Self-citationPregnancy in a woman with congenital adrenal hyperplasia: A case report and literature review
Zhu, Y. C., Li, C., Zhang, X., Zhang, X., & Zhang, L. (2023) · Gynecology and Obstetrics Clinical Medicine · doi:10.1016/j.gocm.2023.04.006
Ergenlikte Cinsel Gelişim Bozuklukları
Ayrancı, Y. M. (2024) · doi:10.5152/6819
Cinsel Gelişim Bozukluklarında Cerrahi Zamanlama ve Tedavi
Söylet, Y., Sezer, A., & Hakalmaz, A. E. (2024) · doi:10.5152/6812
Cinsiyet Gelişim Bozukluklarında Erken Dönem Ruhsal Sorunlar
Çağlayan, R. H. B., & Cantürk, A. E. (2024) · doi:10.5152/6818
Cinsiyet Gelişim Bozukluklarında Aile
Çağlayan, R. H. B., & Aydın, A. (2024) · doi:10.5152/6816
Cinsiyet Gelişim Bozukluğunda Psikiyatrik Açıdan Etik ve Hukuk
Çağlayan, R. H. B., & Anac, E. G. (2024) · doi:10.5152/6821
Cinsiyet Gelişim Bozukluklarında Uzun Dönem İzlem
Turan, H. (2024) · doi:10.5152/6815
Büyükünal, S. N. C., Hakalmaz, A. E., & Sezer, A. (2024) · doi:10.5152/6801
Cinsiyet Gelişim Bozukluklarında Damgalanma Stresi
Tosun, C. (2024) · doi:10.5152/6820
İnsan Gonad ve Cinsel Kanal Gelişiminin Embriyolojisi
Tarçın, G., & Evliyaoğlu, O. (2024) · doi:10.5152/6802
46, XX Cinsiyet Gelişim Bozuklukları
Bayramoğlu, E. (2024) · doi:10.5152/6808
Hormonal Olmayan Cinsel Gelişim Bozuklukları
Hakalmaz, A. E., & Sezer, A. (2024) · doi:10.5152/6810
Cinsel Gelişim Bozukluklarında Görüntüleme
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Cinsiyet Gelişim Bozukluklarinda Psikiyatrik Komorbiditeler
Çirkin, B. (2024) · doi:10.5152/6817
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46, XY Cinsiyet Gelişim Bozuklukları
Aydın, D. B., & Evliyaoğlu, O. (2024) · doi:10.5152/6807
Cinsiyet Gelişim Bozukluklarının Sınıflandırılması
Özcabı, B. (2024) · doi:10.5152/6804
Cinsel Gelişim Bozukluklarında Tanı
Özcabı, B., & Çakır, A. D. (2024) · doi:10.5152/6805
Gonad Gelişimi ve Cinsel Gelişim Bozukluğunun Moleküler Düzeneğ
Çakır, A. D. (2024) · doi:10.5152/6803
Cinsiyet Gelişim Bozukluklarında Malformasyon Sendromları
Özer, Y., & Bayramoğlu, E. (2024) · doi:10.5152/6811
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Human P450 oxidoreductase deficiency
Pandey, A. V., Barata, I. S., & Flück, C. E. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00259-4
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- Authors
- 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., Dhir, V., Krone, N., Shackleton, C. H. L., & Arlt, W.
- Affiliations
- LMU Klinikum (DE)
- University of Birmingham (GB)
- University of Mississippi Medical Center (US)
- University of Nebraska Medical Center (US)
- National Health Service (GB)
- John Radcliffe Hospital (GB)
- Corresponding author
- Arlt, Wiebke
- ORCID
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2013-03-01
- Volume
- 98
- Issue
- 3
- Pages
- E528-E536
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- PMC
- PMC3708032
- OpenAlex
- W2124265874
- Cited by
- 67
- References
- 44
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 24 · 2023: 3 · 2022: 1 · 2021: 3 · 2020: 6 · 2019: 6 · 2018: 3 · 2017: 5 · 2016: 3 · 2015: 5 · 2014: 3 · 2013: 1
- FWCI
- 1.79
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion, cc-by-nc)
- Spiral (Imperial College London) (submittedVersion, cc-by-nc)
- Funders
- Wellcome Trust (0900567, GR079865MA)
- European Commission (268270, 221058)
- Medical Research Council (G1001964, 0900567)
- FP7 Coordination of Non-Community Research Programmes (201444)
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital adrenal hyperplasia, P450 oxidoreductase deficiency, prenatal diagnosis, androsterone, unconjugated estriol, skeletal deformities, prenatal ultrasound, compound heterozygosity, heterozygous carriers
- MeSH terms
- Abnormalities, Multiple, Adrenal Hyperplasia, Congenital, Androsterone, Estriol, Female, Heterozygote, Homozygote, Humans, Male, Mass Screening, Phenotype, Predictive Value of Tests, Pregnancy, Pregnancy Trimester, Second, Pregnanediol, Prenatal Diagnosis, Radiography, Steroid 17-alpha-Hydroxylase, Steroid 21-Hydroxylase, Virilism, Ultrasonography, Prenatal
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