Abstract:Background: Congenital adrenal hyperplasia (CAH) caused by P450 oxidoreductase deficiency (PORD) in 46,XX patients is characterized by genital ambiguity, primary amenorrhea, absent or incomplete sexual maturation, infertility, skeletal malformations and so on. But few pregnancies have been reported from these female patients with PORD. Case Description: A 29-year-old Chinese woman with PORD due to the compound heterozygous mutation (c.1370G>A/c.1196_1204del) in the P450 oxidoreductase(POR) gene had suffere… Show more
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