Hypertension Due to 17α-Hydroxylase Deficiency

Abstract

A female patient with hypertension, hypogonadism and hypokalemia due to 17.alpha.-hydroxylase deficiency is described, in whom the diagnosis was initially based on the finding of low urinary 17-ketosteroids and 17-hydroxycorticosteroids, in the presence of high plasma fluorometric 11-hydroxycorticoids. Later studies demonstrated low circulating levels of 17.alpha.-hydroxyprogesterone and the steroids derived from this precursor: 11-deoxycortisol, cortisol, estradiol and testosterone. Plasma progesterone, corticosterone and deoxycorticosterone (DOC) were greatly increased, but plasma and urine aldosterone were very low. The initial subnormal cortisol and 11-deoxycortisol levels responded to tetracosactrin administration, suggesting that the adrenal was not maximally stimulated by endogenous ACTH and indicating that the 17.alpha.-hydroxylase deficiency was incomplete. Plasma and urinary aldosterone levels were still suppressed after 12 mo. treatment with prednisone despite normalization of the previously suppressed renin levels. This uncommon cause of medically-controllable juvenile hypertension can be identified without specific steroid assays.