Men with classic 21-hydroxylase deficiency are at risk for infertility.
The mechanisms are complex and involve three factors:
gonadotropin inhibition due to the excessive secretion of progestin by the adrenal glands,
obstruction of the rete testis, and
destruction of the testes by testicular adrenal rest tumors.
Antisecretory and antitumoral activities of mitotane, a drug that induces “chemical adrenalectomy restore the fertility of a man with both 21-hydroxylase deficiency and azoospermia.
The 21-hydroxylase deficiency was suspected at birth because of salt wasting and was confirmed by elevated serum levels of 17-hydroxyprogesterone and molecular analysis of CYP21A2.
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