Aromatase Deficiency

Aromatase deficiency is a condition resulting from insufficient production of the enzyme aromatase, which can lead to inappropriate virilization in females.

One notable feature is that it can also affect the mother during gestation that resolves after birth. The deficiency also causes the virilization of XX fetuses, and although they will have normal female internal genitalia, clitoromegaly often results from the high androgen levels in utero, along with ambiguous external genitalia upon birth.

Testosterone may be normal or elevated.

The lack of estrogen results in the presentation of primary amenorrhea and tall stature; the latter occurs because estrogen normally causes fusion of the epiphyseal growth plates. The gonadotropins LH and FSH will both be elevated and patients present with polycystic ovaries. Furthermore, the low estrogen will predispose those with the condition to osteoporosis.