Aromatase deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of mutations in the CYP19A1 gene. The CYP19A1 gene encodes for the enzyme aromatase. Aromatase converts androgens to estrogens which is vital for bone growth and regulation of blood sugar levels. Symptoms of decrease in estrogen and increase androgens such as testosterone can cause impaired female sexual development, unusual bone growth, insulin resistance, and a variety of other symptoms. It presents with virilization of pregnant mothers during the antenatal period, and virilization of female fetuses at birth. Treatments include lifelong hormone therapy. There have been about 20 reported cases of Aromatase Deficiency worldwide.

Aromatase Deficiency References