Steroid hormone synthesis disorders

New MI, White PC Genetic disorders of steroid hormone synthesis and metabolism. Baillieres Clin Endocrinol Metab 9 525-554,1995. 

Testosterone, the principal male sex steroid hormone, is synthesized in five steps from cholesterol, as shown below. In the last step, five isozymes catalyze the 17/3-hydroxysteroid dehydrogenase reactions that interconvert 4-androstenedione and testosterone. Defects in the synthesis or action of testosterone can impair the development of the male phenotype during embryogenesis and cause the disorders of human sexuality termed male pseudohermaphroditism. Specifically, mutations in isozyme 3 of the 17/3-hydroxysteroid dehydrogenase in the fetal testis impair the for-... 

Rates of hepatic synthesis of many plasma proteins are affected by a patient s endocrine status. The effects of some steroid hormones on individual plasma protein levels are given in Table 20-5. The plasma protein levels characteristic of a specific disease may therefore be complicated by the steroid status of a patient and by an inflammatory acute phase reaction. The abnormal steroid status may be the result of an intrinsic hormonal disorder or of treatment with steroid hormones, as in inflammation. 

While the clinical use of MS/MS of hormonal steroids is new, metabolite analysis by gas chromatography (GC)-mass spectrometry (MS) has been available for 40 years, since few immunoassays were developed for urinary analytes. Profile analysis is a very powerful technique and it must be recognized that with few exceptions, all disorders of steroid synthesis and metabolism first had their metabolome defined... 

Cortisone Reductase DeGciency. In hirsutism and virilization in females, cortisone reductase deficiency has been described. Patients with this disorder convert all their cortisol into cortisone. This gives rise to an apparent cortisol deficiency. Adrenocorticotropic hormone increases and stimulates the adrenal steroid synthesis. The urinary steroid profile is characterized by a very high excretion of THE, cortolones, and adrenal androgens, and low excretion of THF and 5a-THF [33]. 

---