A New Variant of 17 ƒ ¿ - Hydroxylase Deficiency with Hyper - aldosteronism in Two Japanese

We present a report on two sisters who have 17 ƒ¿-hydroxylase deficiency with hyperaldosteronism. They have hypertension and hypergonadotropic hypogonadism. The steroid profiles suggest that they have 17 ƒ¿-hydroxylase deficiency. In contrast to the classical biochemical findings in 17 a-hydroxylase deficiency, both of these patients have hyperaldosteronism. Thus this report describes a new variant of 17 a-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