A New Variant of 17α-Hydroxylase Deficiency with Hyperaldosteronism in Two Japanese Sisters

Abstract

We present a report on two sisters who have 17α-hydroxylase deficiency with hyperaldosteronism. They have hypertension and hypergonadotropic hypogonadism. The steroid profiles suggest that they have 17α-hydroxylase deficiency. In contrast to the classical biochemical findings in 17α-hydroxylase deficiency, both of these patients have hyperaldosteronism. Thus this report describes a new variant of 17α-hydroxylase deficiency with hyperaldosteronism.
Dexamethasone suppressed the mineralocorticoid excess, including aldosterone, and improved their hypertension. In the untreated state, ACTH, instead of the renin-angiotensin system, regulated plasma aldosterone levels, but during dexamethasone treatment the renin-angiotensin system regulated these levels.