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The effects that androgens have on the human body (virilization, masculinization, anabolism, etc.) are not brought about by androgens themselves, but rather are the result of androgens bound to androgen receptors; the androgen receptor mediates the effects of androgens in the human body.In this way, androgens bound to androgen receptors regulate the expression of target genes, thus produce androgenic effects.
Management of AIS is currently limited to symptomatic management; no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutations.Middle, the eight exons are separated by introns of various lengths.Bottom, illustration of the AR protein, with primary functional domains labeled (not representative of actual 3-D structure).Some carriers have been noted to have slightly reduced body hair, delayed puberty, and/or tall stature, presumably due to skewed X-inactivation.A female carrier will pass the affected AR gene to her children 50% of the time.
The Quigley scale can be used in conjunction with the traditional three classes of AIS to provide additional information regarding the degree of genital masculinization, and is particularly useful when the diagnosis is PAIS.