ENDOCRINE FINDINGS IN MALE PSEUDOHERMAPHRODITISM

Recent discoveries in molecular biology have much clarified the regula tion and function of steroid converting enzymes. Most progress has bee n made in the area of cytochromes, which regulate the side chain cleav age of cholesterol (P-450 SCC) and the 17alpha-hydroxylase- and 17, 20 -desmolase (or 17, 20-lyase) activities (P-450 17alpha), as well as in 3beta-hydroxysteroid dehydrogenase. Nevertheless, there are some disc repancies between fundamental knowledge and clinical experience, which are difficult to understand: why is it possible, e.g., that cases wit h ''pure'' 17alpha-hydroxylase or 17,20-desmolase deficiency exist, wh en there is only one cytochrome regulating both steps? After a brief r eview of clinical and biochemical findings in the various defects of t estosterone biosynthesis, a case is discussed which is of interest in this respect.