A person who has an aromatase deficiency does not have aromatase, the enzyme responsible for aromatization. At birth, someone with XX chromosomes and aromatase deficiency may have a partially or completely fused labia (resembling the appearance of a scrotum) and experience clitoromelagy. Typically, most of the androgens that are produced by people with XX chromosomes are routinely aromatized into estrogen, but the androgens produced by somoene who has both XX chromosomes and an aromatase deficiency will influence the development of their external sex characteristics. During puberty, they may not begin menstruating, may not develop breasts, and may develop some secondary sex characteristics associated with a typical testosterone-based puberty (such as facial hair and muscle mass). Someone with aromatase deficiency may develop multiple cysts on their ovaries.
Someone with XY chromosomes can also have aromatase deficiency, but in this case it does not typically cause variations in their sex characteristics. However, someone with XY chromosomes and an aromatase deficiency may grow taller than typically, as estrogen is the hormone that is usually responsible for closing the bone growth plates.
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