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Clinical and Experimental Obstetrics & Gynecology  2016, Vol. 43 Issue (6): 902-904    DOI: 10.12891/ceog3172.2016
Case Report Previous articles | Next articles
P450 oxidoreductase deficiency with maternal virilization during pregnancy
K. Nakanishi1, 3, A. Yamashita3, T. Miyamoto3, *(), R. Takeguch2, A. Furuya4, K. Matsuo4, Y. Tanahashi4, M. Kawamura1, K. Sengoku3
1Department of Obstetrics and Gynecology, Wakkanai City Hospital, Wakkanai
2Department of Pediatrics, Wakkanai City Hospital, Wakkanai
3Department of Obstetrics and Gynecology, Asahikawa Medical University, Asahikawa
4Department of Pediatrics, Asahikawa Medical University, Asahikawa (Japan)
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Purpose: The authors report on a rare case of maternal virilization during pregnancy caused by autosomal recessive P450 oxidoreductase (POR) deficiency. Materials and Methods: A 24-year-old primigravida developed a deepening voice and hirsutism in the second trimester. Prenatal ultrasonography failed to detect any fetal abnormality and fetal growth was normal. POR deficiency was suspected, but the mother declined fetal genetic testing. A female neonate was delivered by cesarean section at 41 weeks’ gestation. Results: The neonate had skeletal abnormalities. Mutational analysis of the POR gene demonstrated homozygosity for c.1370 G>A and p.R457H in the patient and heterozygosity in her parents. POR deficiency was confirmed in the neonate. Conclusion: POR deficiency should be suspected in cases of maternal virilization. Maternal urinary estriol, fetal magnetic resonance imaging, and parental genetic testing should be performed. Parental consent for fetal genetic testing should be sought to ensure prompt diagnosis and early treatment.
Key words:  Congenital adrenal hyperplasia      Genetic diagnosis      Maternal virilization      P450 oxidoreductase deficiency     
Published:  10 December 2016     
*Corresponding Author(s):  T. MIYAMOTO     E-mail:

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K. Nakanishi, A. Yamashita, T. Miyamoto, R. Takeguch, A. Furuya, K. Matsuo, Y. Tanahashi, M. Kawamura, K. Sengoku. P450 oxidoreductase deficiency with maternal virilization during pregnancy. Clinical and Experimental Obstetrics & Gynecology, 2016, 43(6): 902-904.

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