Complete Androgen Insensitivity Syndrome: Long-Term Medical, Surgical, and Psychosexual Outcome

Abstract

The most appropriate treatment for intersex children remains a topic of debate, in part because of a lack of knowledge about the medical, operative, and psychosexual outcomes in affected adults. This study examined outcomes in 14 women diagnosed as having complete androgen insensitivity syndrome (CAIS). Women with CAIS provide an excellent opportunity to study the effects of estrogen on gender development in 46,XY individuals who are unresponsive to androgens. CAIS was diagnosed if testes were present along with normal external female genitalia in a 46,XY person, an androgen receptor gene mutation was identified, there was spontaneous feminization at puberty except for a lack of menses, virilization was not evident despite normal or high male testosterone levels, and axillary and pubic hair was much reduced or absent postpubertally. The women ranged in age from the late 20s to mid-60s when evaluated (average, 45 years). Eight participants, 57% of the total, were at or above the 90th centile of control adult female height; the others were between the 50th and 75th centiles. Seven women exceeded ideal body weight by at least 15 kg, three of them by 80 kg or more. Most gonadectomies and vaginoplasties had been performed in adolescence or adulthood. Eight subjects, one a homosexual, did not require vaginoplasty. In no case was clitoroplasty necessary. Bone loss was documented in 43% of women. More than 80% had received some form of counseling. Nearly 80% of subjects were satisfied with their genitalia with regard to sexual function. A majority estimated their libido as being average or stronger. Ten of 13 reported being able to experience organisms. Only 1 of 14 women was substantially dissatisfied with her physical appearance, although 5 others were somewhat dissatisfied. In general, these women perceived themselves as being feminine throughout their development and had experienced female fantasies and experiences since adolescence. Half of the women were married at the time of the study. Five of them and one unmarried women had adopted children. Without exception the women were satisfied with their gender assignment. These women with CAIS have had generally satisfactory medical, surgical, and psychosexual outcomes. All of them were pleased at having been raised as females, and none desired gender reassignment.