AROMATASE IN HUMAN PHYSIOLOGY AND PATHOLOGY. IMPLICATIONS OF HUMAN AROMATASE DEFICIENCY.

N SARACO, G GUERCIO, M COSTANZO, R MARINO, MS BAQUEDANO, A BELGOROSKY.

Genetic Steroid Disorders

Elsevier Press

Año: 2021;

The aromatase enzyme (cP450arom) is essential in the biosynthesis of estrogens fromandrogen precursors. It is expressed in several human tissues during fetal developmentand postnatal life. Aromatase expression and activity influence the balance of androgensand estrogens in these target tissues. Animal models of aromatase deficiency have been useful to better understand the role of aromatase in brain development, bone physiology, reproduction, and lipid and glucose metabolism. Even though human aromatase deficiency is a rare disease, it is a natural human model providing relevant insights into the knowledge of aromatase and estrogen action in human development and physiology in both sexes.