Ulick S
J Clin Endocrinol Metab. 1976 Jul;43(1):92-6. doi: 10.1210/jcem-43-1-92.
The abnormal steroid pattern in an inborn error in aldosterone biosynthesis consists of overproduction of glomerulosa zone 18-hydroxycorticosterone relative to aldosterone. The normal values for the excretory ratio of the major urniary metabolites of these two steroids are presented to provide a basis for the diagnosis of abnormalities in their ratio. The production of glomerulosa zone 18-hydroxycorticosterone relative to aldosterone is remarkably constant over a large range of absolute values, except in the disorder involving the terminal portion of the aldosterone biosynthetic pathway for which the term corticosterone methyl oxidase defect, Type 2, is suggested.
醛固酮生物合成先天性缺陷中的异常类固醇模式表现为，相对于醛固酮，球状带18-羟皮质酮产生过多。给出这两种类固醇主要尿代谢产物排泄率的正常值，为诊断其比例异常提供依据。相对于醛固酮，球状带18-羟皮质酮的产生在很大的绝对值范围内显著恒定，除了涉及醛固酮生物合成途径终末部分的疾病，针对该疾病建议使用术语2型皮质酮甲基氧化酶缺陷。
