Article
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.
Pediatric research - 1 Feb 2006
Fukami Maki, Hasegawa Tomonobu, Horikawa Reiko, Ohashi Toya, Nishimura Gen, Homma Keiko, Ogata Tsutomu
Abstract excerpt
In this study, we report on three Japanese patients with cytochrome P450 oxidoreductase (POR) deficiency (PORD). Case one was a 46,XY patient who was found to have mildly increased 17alpha-hydroxyprogesterone (17-OHP) by the neonatal mass screening. There was no maternal virilization during pregnancy, and he had no skeletal or genital abnormality. Thus, he was initially diagnosed as having nonclassical...
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