Aromatase deficiency involves a mutation of the CYP19A1 gene, which encodes for the enzyme aromatase. The non-functional enzyme will lead to the inability to synthesize estrogen from androgens, which will lead to decreased estrogen levels.
As a result of deficient aromatase, androgens (e.g. testosterone and androstenedione) will accumulate.
In neonatal females, the genitalia is ambiguous despite normal development of internal genital organs.
During pubescence, there is impaired maturation of secondary sexual characteristics. This presents as primary amenorrhea and virilization (e.g. hirsutism, severe acne) in females.
The mothers of affected fetuses can experience masculinization (i.e. maternal virilization) during pregnancy as the fetal androgens can cross the placenta. This may start at 12 weeks gestation and typically disappears after delivery.
During childhood, patients may present as tall-for-height and with osteoporosis (e.g. fractures following minimal trauma).
Osteoporosis is generally a disease of postmenopausal women when estrogen levels decline. However, the low estrogen levels in this disease will result in poor bone density i.e. osteoporosis.
Treatment of aromatase deficiency includes both estrogen and progesterone HRT.
In order to address the osteoporosis, which can present in both males and females, both calcium and vitamin D supplementation can be provided.
Surgical correction of the ambiguous genitalia in young females may also be an option.
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