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Androgen insensitivity syndrome is a difference in sex development involving hormonal resistance due to androgen receptor dysfunction.
It affects 1 in 20,000 to 64,000 XY births. The condition results in the partial or complete inability of cells to respond to androgens. This unresponsiveness can impair or prevent the development of male genitals, as well as impairing or preventing the development of male secondary sexual characteristics at puberty. It does not significantly impair female genital or sexual development. The insensitivity to androgens is therefore clinically significant only when it occurs in genetic males,. Clinical phenotypes in these individuals range from a typical male habitus with mild spermatogenic defect or reduced secondary terminal hair, to a full female habitus, despite the presence of a Y-chromosome.
AIS is divided into three categories that are differentiated by the degree of genital masculinization: complete androgen insensitivity syndrome is indicated when the external genitalia are those of a typical female; mild androgen insensitivity syndrome is indicated when the external genitalia are those of a typical male, and partial androgen insensitivity syndrome is indicated when the external genitalia are partially, but not fully, masculinized. Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinized genitalia.
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. Areas of management include sex assignment, genitoplasty, gonadectomy to reduce tumor risk, hormone replacement therapy, genetic counseling, and psychological counseling.
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