Placental Aromatase Deficiency

Overview

Aromatase deficiency is an autosomal recessive disorder in which there is decrease or absence in the level of aromatase in the body which leads to impairment in conversion of androgens to estrogen. This is due to a genetic mutation in the CYP19A1 , a subtype of [P450]. Patient affected by this disease typically presents with maternal virilization ,amenorrhea in puberty in females. Males are rarely affected.