Prenatal diagnosis of cytochrome P450 oxidoreductase deficiency（PORD）with 3DCT and maternal urinary steroid profile: A case report

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  • Obata Miyuki
    Department of Obstetrics and Gynecology, Yamagata University Faculty of Medicine
  • Tsutsumi Seiji
    Department of Obstetrics and Gynecology, Yamagata University Faculty of Medicine
  • Sendo Kanako
    Department of Obstetrics and Gynecology, Yamagata University Faculty of Medicine
  • Watanabe Norikazu
    Department of Obstetrics and Gynecology, Yamagata University Faculty of Medicine
  • Aoki Kuraaki
    Department of Pediatrics, Yamagata University Faculty of Medicine
  • Wakabayashi Takashi
    Department of Pediatrics, Yamagata University Faculty of Medicine
  • Sasaki Ayako
    Department of Pediatrics, Yamagata University Faculty of Medicine
  • Nagase Satoru
    Department of Obstetrics and Gynecology, Yamagata University Faculty of Medicine

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  • 尿ステロイドプロファイルと3DCTで出生前に診断したチトクロームP450オキシドレダクターゼ異常症

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Abstract

<p> Cytochrome P450 oxidoreductase deficiency（PORD）is an autosomal recessive disorder, caused by mutation in POR. Clinical features of PORD are disordered sex development in affected individuals of both sexes, glucocorticoid deficiency, multiple skeletal malformations, and maternal virilization during pregnancy. We report successful prenatal diagnosis of PORD with 3DCT and maternal urinary steroid profile. The patient had acromegalic appearance during pregnancy of the PORD fetus with ambiguous genitalia detected with prenatal ultrasound. Maternal urinary and serum estriol were low as a pregnant woman, and serum testosterone elevated. Since growth hormone was not increased and pituitary adenoma could not be detected, acromegaly was not suspected. Notable findings in the urinary steroid data are increased excretions of androsterone, high androsterone to etiocholanolone ratio, and increased excretion of 5α-pregnane-3α, 17α-diol-20-one that is the precursor of dihydrotestosterone in the backdoor pathway. The fetal 3DCT detected radio-humeral synostosis. 3DCT and maternal urinary steroid profile are useful in the prenatal diagnosis of PORD.</p>

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