New M I, Levine L S
Monogr Endocrinol. 1984;26:1-88.
The enzyme defects of steroidogenesis appear to be monogenic disorders. The clinical heterogeneity of these disorders suggests allelic variations at the loci for these disorders, as has been reported for other gentic inborn errors. When the genes for these enzymes are cloned and sequenced, the final proof of allelism will be obtained. Prenatal diagnosis of one of the enzyme defects is possible by biochemical and HLA studies of the amniotic fluid. In the others, DNA restriction fragment polymorphism may provide a tool in the future for prenatal diagnosis. Since all these disorders are compatible with normal intelligence and a productive life, the more frequent ones at least are worthy of screening for early diagnosis and treatment.
类固醇生成的酶缺陷似乎是单基因疾病。这些疾病的临床异质性表明这些疾病位点存在等位基因变异，正如其他遗传性先天性疾病所报道的那样。当这些酶的基因被克隆和测序后，将获得等位基因的最终证据。通过对羊水进行生化和HLA研究，可以对其中一种酶缺陷进行产前诊断。对于其他疾病，DNA限制性片段多态性可能在未来为产前诊断提供一种手段。由于所有这些疾病都与正常智力和有意义的生活相容，至少那些较常见的疾病值得进行筛查以早期诊断和治疗。
