Abstract
Cytochrome P450 oxidoreductase deficiency(PORD)is a rare disease, which is a subtype of congenital adrenal hyperplasia. The predominant signs include no puberty development, infantile reproductive organs, ear deformities, and bone synostosis in skull or limbs. Here, we analyzed the clinical features of a case with PORD confirmed by gene sequencing. The pathology, genetic features, clinical manifestations, diagnosis and treatment for PORD were reviewed. (Chin J Endocrinol Metab, 2017, 33: 68-71) Key words: P450 oxidoreductase deficiency; P450 oxidoreductase; Congenital adrenal hyperplasia; Skeletal malformations; 17α-hydroxyprogesterone
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