Abstract
Although the vast majority of hypertension is "essential," some may be secondary. And, an accurate diagnosis of secondary cause of hypertension provides the treating clinician with a unique opportunity that renders dramatic response to the patient, either with pharmacologic therapy or surgery. One such secondary cause of hypertension is congenital adrenal hyperplasia due to 11 beta hydroxylase or 17 alpha hydroxylase deficiency. These inherited syndromes are caused by deficient adrenal corticosteroid biosynthesis, in which there is reduced negative feedback inhibition of cortisol and, depending on the steroidogenic pathway involved, an alteration in adrenal mineralocortiocoid and androgen secretion occurs. Here, we present, a young adult presented with hypertension, in association with hypokalemia and metabolic alkalosis, who was diagnosed with congenital adrenal hyperplasia (CAH) due to non-classical variant 11-beta hydroxylase deficiency, which responded dramatically to steroids therapy. Furthermore, we also report two new mis-sense mutations in CYP11B1 gene, a gene coding for 11-betahydroxylase enzyme.