Steroidogenesis, enzyme deficiencies, and the pathogenesis of human hypertension

By characterizing the genetic basis of monogenetically inherited forms of hypertension, it is anticipated that candidate genes involved in the pathogenesis of human essential hypertension will be identified. This review summarizes literature describing the genotype-phenotype relationships occurring in three steroidogenic enzyme deficiencies resulting in hypertension17α-hydroxylase deficiency, 11β-hydroxylase deficiency, and 11β-hydroxysteroid dehydrogenase 2 deficiency. The disorders are characterized either by increased production of unusual steroids with mineralocorticoid activity or by unmasking of the mineralocorticoid activity of the glucocorticoid hormone. Polymorphism of any of the corresponding genes may result in susceptibility to low-renin essential hypertension.