Androgen Insensitivity Syndrome (AIS)

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Introduction Androgen insensitivity syndrome (AIS) is a genetic X-linked recessive disorder where affected males have mostly female sex characteristics or signs of both male and female sexual development. Individuals with this condition are genetically male; they contain both an X and Y chromosome (Barbaro et al., 2007). Mutations in the androgen receptor gene are what cause androgen insensitivity syndrome in individuals. This gene produces androgen receptors which are important to males. Without this receptor androgen will not be supplied to the body and that is a major hormone males need. Other names used in place of AIS are as follows; Testicular Feminization Syndrome (TFM), Androgen Receptor Deficiency, Androgen Resistance Syndrome, AR Deficiency, Dihydrotestosterone Receptor Deficiency, and DHTR Deficiency (OMIM, 2012). Androgen insensitivity syndrome can be considered as complete androgen insensitivity syndrome, partial androgen insensitivity syndrome, or mild androgen insensitivity syndrome. Complete androgen insensitivity syndrome occurs when the body is unable to use androgens at all. Affected individuals with this form have the external sex characteristics of females, but do not have a uterus, will not menstruate, and are infertile. They also will not have axillary or pubic hair, or acne which is linked to puberty. Androgen insensitivity syndrome individuals develop internal male sex organs. Partial androgen insensitivity syndrome (Reifenstein syndrome) is when the body’s tissues are partially sensitive to the effects of androgens. Affected individuals can have normal female sex characteristics, both male and female sex characteristics, or normal male sex characteristics. An individual may be brought up as a male then u... ... middle of paper ... ... factors influencing gonadal histology including germ cell pathology. Ebsco. Mod Pathol. 2013. Koch, C. A. Androgen Insensitivity Syndrome Treatment and Management. Medscape, 2012. Web. <>. Matsumoto, T., Sakari, M., Okada, M., Yokoyama, A., Takahashi, S., Kouzmenko, A., and Kato, S. The Androgen Receptor in Health and Disease. Annual Review of Physiology.74: 201-224, 2013. McPhaul, M. J. Androgen receptor mutations and androgen insensitivity. Mol Cell Endocrinol.198:61-7, 2002. OMIM. #300068 Androgen Insensitivity Syndrome; AIS. 2012 Wisniewski, A. B., Migeon, C. J., Meyer-Bahlburg, H. F. L., Gearhart, J. P., Berkovitz, G. D., Brown, T. R., Money, J. Complete androgen insensitivity syndrome: long- term medical, surgical, and psychosexual outcome. J. Clin. Endocr. Metab. 85: 2664-2669, 2000.

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