Sherwood R A, Rocks B F
J Clin Pathol. 1982 Nov;35(11):1236-9. doi: 10.1136/jcp.35.11.1236.
Steroid sulphatase deficiency is a recently recognised genetically determined inborn error of metabolism. Originally identified as an enzyme disorder of the placenta (commonly termed placental sulphatase deficiency), it is now known that the progeny of affected pregnancies have a generalised steroid sulphatase deficiency and that the enzyme defect persists throughout life. The disorder is characterised clinically by markedly low maternal oestrogen excretion in the presence of normal fetal growth and development. The importance of antenatal diagnosis lies in the differentiation of this disorder from the more ominous fetal defects that result in low oestrogen concentrations. This paper summarises the relevant literature and describes a case in which biochemical tests were used for the antenatal diagnosis of steroid sulphatase deficiency. The pregnancy resulted in a healthy baby boy delivered vaginally after a spontaneous labour.
类固醇硫酸酯酶缺乏症是一种最近才被认识到的由基因决定的先天性代谢缺陷。最初被确定为胎盘的一种酶紊乱（通常称为胎盘硫酸酯酶缺乏症），现在已知受影响妊娠的后代存在全身性类固醇硫酸酯酶缺乏，且这种酶缺陷会终生持续。该疾病的临床特征是在胎儿生长发育正常的情况下，母体雌激素排泄明显减少。产前诊断的重要性在于将这种疾病与导致雌激素浓度降低的更严重的胎儿缺陷区分开来。本文总结了相关文献，并描述了一个通过生化检测对类固醇硫酸酯酶缺乏症进行产前诊断的病例。该妊娠经自然分娩后通过阴道分娩出一名健康男婴。
