P450氧化还原酶缺陷症的临诊应对

Approach to the patient with cytochrome P450 oxidoreductase deficiency

P450氧化还原酶缺陷症（cytochrome P450 oxidoreductase deficiency，PORD）是一种罕见的先天性肾上腺皮质增生症，典型的临床表现为青春发育延迟，外生殖器幼稚，以及耳廓畸形、颅骨或四肢长骨骨性联结。本文通过对1例经基因测序明确诊断为PORD患者的临床特点进行分析，对该病的发病机制、分子遗传学特点、临床表现以及疾病的诊治作相关文献复习。

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.