Androgen Insensitivity Syndrome

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Occasionally, a girl shows all the usual changes of puberty except that she fails to menstruate. Physical examination shows the presence of testes in the abdomen and a karyotype reveals that she has the XY chromosomes of a male. The testes produce normal male levels of testosterone, but the target cells lack receptors for it. This is called androgen-insensitivity syndrome (AIS), or testicular feminization.

The external genitals develop female anatomy as if no testosterone were present. At puberty, breasts and other feminine secondary sex characteristics develop (fig. 27.3) because the testes secrete small amounts of estrogen and there is no overriding influence of testosterone. However, there is no uterus or menstruation. If the abdominal testes are not removed, the person has a high risk of testicular cancer.

Androgen Insensitivity Syndrome

Figure 27.3 Androgen-Insensitivity Syndrome. These siblings are genetically male (XY). Testes are present and secrete testosterone, but the target cells lack receptors for it, so testosterone cannot exert its masculinizing effects. The external genitalia and secondary sex characteristics are feminine, but there are no ovaries, uterus, or vagina. In what way is androgen-insensitivity syndrome similar to non-insulin-dependent diabetes mellitus?

Figure 27.3 Androgen-Insensitivity Syndrome. These siblings are genetically male (XY). Testes are present and secrete testosterone, but the target cells lack receptors for it, so testosterone cannot exert its masculinizing effects. The external genitalia and secondary sex characteristics are feminine, but there are no ovaries, uterus, or vagina. In what way is androgen-insensitivity syndrome similar to non-insulin-dependent diabetes mellitus?

Chapter 27 The Male Reproductive System 1021

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