P450 oxidoreductase deficiency with maternal virilization during pregnancy

P450 oxidoreductase deficiency with maternal virilization during pregnancy

The authors report on a rare case of maternal virilization during pregnancy caused by autosomal recessive P450 oxidore- ductase (POR) deficiency. A 24-year-old primigravida developed a deepening voice and hirsutism in the second trimester. Prenatal ultrasonography failed to detect any fetal abnormal...

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Veröffentlicht in:Clinical and experimental obstetrics & gynecology 2016-01, Vol.43 (6), p.902-904
Hauptverfasser: Nakanishi, K, Yamashita, A, Miyamoto, T, Takeguchi, R, Furuya, A, Matsuo, K, Tanahashi, Y, Kawamura, M, Sengoku, K
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container_end_page 904
container_issue 6
container_start_page 902
container_title Clinical and experimental obstetrics & gynecology
container_volume 43
creator Nakanishi, K
Yamashita, A
Miyamoto, T
Takeguchi, R
Furuya, A
Matsuo, K
Tanahashi, Y
Kawamura, M
Sengoku, K
description The authors report on a rare case of maternal virilization during pregnancy caused by autosomal recessive P450 oxidore- ductase (POR) deficiency. 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. 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. 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.
doi_str_mv 10.12891/ceog3172.2016
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