IMR Press / CEOG / Volume 43 / Issue 6 / DOI: 10.12891/ceog3172.2016

Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 46 Issue 1 (2019). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.

Open Access Case Report
P450 oxidoreductase deficiency with maternal virilization during pregnancy
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1 Department of Obstetrics and Gynecology, Wakkanai City Hospital, Wakkanai
2 Department of Pediatrics, Wakkanai City Hospital, Wakkanai
3 Department of Obstetrics and Gynecology, Asahikawa Medical University, Asahikawa
4 Department of Pediatrics, Asahikawa Medical University, Asahikawa (Japan)
Clin. Exp. Obstet. Gynecol. 2016, 43(6), 902–904; https://doi.org/10.12891/ceog3172.2016
Published: 10 December 2016
Abstract

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.
Keywords
Congenital adrenal hyperplasia
Genetic diagnosis
Maternal virilization
P450 oxidoreductase deficiency
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