1. P450 oxidoreductase deficiency with maternal virilization during pregnancy.
- Author
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Nakanishi K, Yamashita A, Miyamoto T, Takeguchi R, Furuya A, Matsuo K, Tanahashi Y, Kawamura M, and Sengoku K
- Subjects
- Antley-Bixler Syndrome Phenotype complications, Antley-Bixler Syndrome Phenotype genetics, Clitoris abnormalities, Female, Genetic Testing, Humans, Infant, Newborn, Mutation, Pedigree, Pregnancy, Pregnancy Complications genetics, Pregnancy Trimester, Second, Ultrasonography, Prenatal, Virilism etiology, Virilism genetics, Young Adult, Antley-Bixler Syndrome Phenotype physiopathology, Pregnancy Complications physiopathology, Virilism physiopathology
- Abstract
Purpose: The authors report on a rare case of maternal virilization during pregnancy caused by autosomal recessive P450 oxidore- ductase (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.
- Published
- 2016