Genetic mutations resulting in loss of aromatase activity in humans and mice.

Abstract excerpt

Aromatase enzyme is the product of the CYP19 gene. Human aromatase deficiency is a rare disorder and is usually caused by single base-pair changes resulting in amino acid substitution or premature stop codons. In most cases, the affected mother presents with virilization in the third trimester of pregnancy. Affected female newborns have pseudohemaphrodism with clitoromegaly and hypospadias. The cause of these...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Aromatase
• Share to Mice
• Share to Mice, Knockout