Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Its molecular basis and its remaining therapeutic...

This article discusses congenital adrenal hyperplasia (CAH) caused by a deficiency of 21-hydroxylase, which represents 90% of all cases of CAH. As in other genetic disorders of metabolism, the symptoms of CAH are related to both the decrease of the final products of metabolism and the accumulation of precursors that are not normally secreted or that are secreted in only very small amounts. The biochemistry, pathophysiology, treatment, genetics, and long-term follow-up (including fertility and sexual orientation) of both the simple virilizing form and the salt-losing form of 21-hydroxylase deficiency are presented, as well as the possibility of prenatal treatment.