Androgen Insensitivity Syndrome: Erotic Component of Gender Identity in Nine Women

Abstract

The androgen insensitivity syndrome is genetically transmitted as an X-linked recessive trait, or male-limited dominant trait; the karyotype is 46,XY. The primary pathognomonic feature of the syndrome is that the tissues of the body are insensitive to androgen. This insensitivity may be attributed to a reduced affinity of the cellular nuclear receptors for androgen. The plasma level of testosterone is normal for males as is the level of estrogen. The external genitalia of a baby born with the complete form of this syndrome are entirely feminine in appearance. The internal genitalia are defective. The shortened vagina ends blindly and does not communicate with a cervix, a defect generally not discovered until later in the patient’s life. In congruence with the external genital appearance, affected babies are assigned and reared female. Puberty is feminizing, as the effects of estrogen are virtually unopposed. Breast development and contours are feminine. Without a uterus, there is no menstruation.