Aromatase Deficiency (CYP19A1)

Aromatase deficiency is a pan-ethnic autosomal recessive condition caused by pathogenic variants in the gene CYP19A1. It is a disorder of sexual development that does not affect life expectancy. Females with aromatase deficiency are born with ambiguous genitalia, do not experience spontaneous puberty, and develop some masculine features, such as male-pattern hair growth. Males with aromatase deficiency have normal genitalia. Affected individuals of either gender may have tall stature, osteoporosis, and insulin resistance. It is not possible to predict the severity of disease based on the variants inherited.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):