Introduction
The CYP17A1 gene encodes for the P450c17 enzyme which catalyzes two key
enzymes: 17-alpha hydroxylase and 17,20-lyase. These enzymes are
expressed mainly in the gonads and in the adrenal glands, and play a
pivotal role in the biosynthesis of aldosterone, cortisol and sex
steroids. The genetic defects of this gene result in a rare form of
congenital adrenal hyperplasia
(CAH).The main clinical
determinants of this disorder are: hypertension, hypokalemia and
disorders of sex development (DSD)[1].
Herein we report the intriguing
case of a 42-year-old woman presenting with grade three hypertension,
severe hypokalemia and primary amenorrhea, which revealed to be the
complete form of 17 alpha-hydroxylase deficiency (17 OHD). We also
discuss the challenging therapeutic approach as well as the outcomes and
the follow-up of this patient.