Zachmann M
Department of Pediatrics, University of Zürich, Kinderspital, Switzerland.
Eur J Pediatr. 1993;152 Suppl 2:S58-61. doi: 10.1007/BF02125441.
Recent discoveries in molecular biology have much clarified the regulation and function of steroid converting enzymes. Most progress has been made in the area of cytochromes, which regulate the side chain cleavage of cholesterol (P-450 SCC) and the 17 alpha-hydroxylase- and 17,20-desmolase (or 17,20-lyase) activities (P-450 17 alpha), as well as in 3 beta-hydroxysteroid dehydrogenase. Nevertheless, there are some discrepancies between fundamental knowledge and clinical experience, which are difficult to understand: why is it possible, e.g., that cases with "pure" 17 alpha-hydroxylase or 17,20-desmolase deficiency exist, when there is only one cytochrome regulating both steps? After a brief review of clinical and biochemical findings in the various defects of testosterone biosynthesis, a case is discussed which is of interest in this respect.
分子生物学领域的最新发现极大地阐明了类固醇转化酶的调节和功能。在细胞色素领域取得了最大进展，细胞色素调节胆固醇的侧链裂解（P-450 SCC）以及17α-羟化酶和17,20-裂解酶（或17,20-裂合酶）活性（P-450 17α），以及3β-羟类固醇脱氢酶。然而，基础知识和临床经验之间存在一些差异，难以理解：例如，当只有一种细胞色素调节这两个步骤时，为什么会存在“纯”17α-羟化酶或17,20-裂合酶缺乏的病例？在简要回顾睾酮生物合成各种缺陷的临床和生化发现后，讨论了一个在这方面有意义的病例。
