Genetic mutations resulting in estrogen insufficiency in the male.

Abstract excerpt

The biosynthesis of estrogens is catalyzed by an enzyme known as aromatase (aromatase cytochrome P450; P450 arom; the product of the CYP19 gene). In recent years a number of patients have been described suffering from aromatase deficiency due to mutations in the CYP19 gene, resulting in the synthesis of a non-functional gene product and a resulting failure to synthesize estrogens. Males with this condition have...

Topics

• Animals
• Aromatase
• Estrogens
• Female
• Humans
• Male
• Mice
• Mice, Knockout
• Mutation
• Phenotype