Human Aromatase Deficiency

Abstract

Several molecular CYP19A1 gene alterations associated with cytochrome P450 aromatase (cP450arom) deficiency have been describedin both females and males. This has contributed considerably to the understanding of cP450arom activity in different tissues, influencingsexual differentiation, patterns of gonadotropin secretion by the hypothalamic?pituitary axis, reproductive capacity, lipid metabolism,insulin sensitivity, and skeletal maturation and growth. Studies of aromatase deficiency in humans were complemented with studies inmouse knockout models that demonstrated the role of estrogens in several tissues. In this article, molecular studies, the clinical phenotypicvariations throughout life in both sexes, gonadal function, fertility, and gender identity are addressed.