P450氧化还原酶缺陷症的临床表现和羊水穿刺产前诊断的意义

 目的 本研究旨在增加对P450氧化还原酶（POR）缺陷症发病机制和临床表现的认识，探讨羊水穿刺进行POR基因检测对产前诊断的重要意义。方法 对1例孕妇的既往异常妊娠史和胎儿的畸形进行描述；对孕妇及其配偶的POR基因进行检测；在本次妊娠时，对羊水细胞POR基因进行检测；对分娩胎儿的外生殖器和骨骼进行评价。结果 1）此孕妇在既往首次妊娠时出现声音低沉、痤疮增多等显著男性化表现；首次分娩双胎，均有肘关节骨融合、阴蒂肥大和脑瘫，经救治无效而死亡。2）此孕妇及其配偶的POR基因检测证实，男方存在POR基因的杂合突变（G1370A，Arg457His）。3）当此孕妇再次妊娠达20周时，对羊水细胞进行POR基因检测未发现突变。4）足月顺产1女婴，外生殖器和骨骼正常。 结论 羊水穿刺进行POR基因检测有助于获得此疾病相关的基因信息，指导妊娠决策。

P450 oxidoreductase deficiency: clinical manifestations and prenatal diagnosis by amniocentesis

Objective To investigate the values of P450 oxidoreductase (POR) gene test by amniocentesis for prenatal diagnosis in a pregnant woman whose husband had a heterozygous mutation in POR gene. Methods In this case report, the abnormal pregnant history in mother and genitalia deformities in her fetus were described. POR gene from the woman and her husband was tested by PCR. During her second pregnancy, the cells from amniotic fluid were collected for POR gene test. The external genitalia and bone status was evaluated after the baby was born. Results 1) the woman presented excessive virilization, such as deepen voice and facial acnes, during her first pregnancy. Her baby twins, manifesting elbow osseous fusion, clitoridauxe and cerebral palsy, died 2 weeks after birth. 2) A heterozygous mutation in POR gene (G1370A, Arg457His) was revealed in the peripheral blood cells from her husband. 3) During her second pregnancy, amniocentesis was conducted and POR gene test for cells from amniotic fluid was negative. 4) A female baby was born uneventfully with normal external genitalia and bone status. Conclusions POR gene test in amniotic fluid can provide important information for prenatal diagnosis.