The most common genetic deficiency in biosynthesis is lack of the enzyme C21 b -hydrolase which results in low corticoid production. C21 b -hydrolase is needed for the conversion of pregnenolone to cortisol and progesterone to aldosterone. If corticoid production is blocked, there is less than normal feedback to the Anterior Pituitary which results in higher levels of ACTH secretion. The increased levels of ACTH can thus produce noticeable affects including masculinization in females, early puberty in males, and stunted growth due to premature bone maturation. The treatment is to provide replacement glucocorticoid.
Some cancers depend upon sex hormones.
Later, we will deal with the use of sex steroid hormone analogs to block receptors on cancer cells. In the future, tissue specific steroid hormone enzyme inhibitors may be available to interfere with hormone formation. The C19 methyl group of testosterone is first oxidized to an aldehyde in its conversion to estradiol. Blocking estradiol synthesis denies the estrogen receptor of ligand which is essential for cell growth. In this process, the a , b unsaturated ketone at C3 is converted to a ketone at C13 via an enol intermediate.