Hypertension Clinical Trial
To elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency.
17α-hydroxylase is a rare form of congenital adrenal hyperplasia. Patients with complete
17α-hydroxylase deficiency may come to attention to the doctor at their early adulthood due
to hypertension or disordered puberty. 17α-hydroxylase is a form of cytochrome P450 enzyme
in the adrenal cortex for the production of cortisol, while 17,20-lyase is required in both
adrenal glands and the gonads for the production of androgen precursors of sex hormones.
Therefore, patients with 17α-hydroxylase will presented with elevated deoxycorticosterone
(DOC) level and decreased aldosterone and cortisol level. Because DOC is the second most
important naturally occurring mineralocorticoid hormone, hypertension and hypokalemic
alkalosis will be noted in these patients. Besides, deficiency of 17,20-lyase activity will
lead to impairment of virilization in 46 XY patients and deficient estrogen production in 46
XX patients.
The P450c17 has both 17α-hydroxylase and 17,20-lyase activity and are encoded by the CYP17
gene. The sequence of CYP17 gene was established in 1987 and more than 40 mutations were
identified till now. The purpose of this study is to elucidate the molecular pathology of
the 4 families with 17α-hydroxylase/17,20-lyase deficiency.
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