Abstract
Transsexualism and homosexuality have been theorized to originate in the male from insufficient androgenization of the brain. For verification of this hypothesis clinical science must rely on subjects with an abnormal prenatal/perinatal endocrine history. A case of a 33-year-old 46,XY subject with an incomplete form of androgen insensitivity syndrome (AIS) is presented. In adulthood the only genital sign of masculinization is a clitoris of 4 cm; the vagina is normal size. The diagnosis AIS was verified by androgen receptor studies. At birth there was confusion as to the sex of the newborn. Originally, the subject was assigned to the male sex, but this decision was reversed 5 days after birth and the subject was reared as a girl. At age 30 the subject applied for gender reassignment treatment to the male sex. Upon psychological evaluation the gender identity was unambiguously male and the sexual orientation was exclusively towards women. The estrogen feedback effect on LH, regarded by some as a marker of the sexual differentiation of the neuroendocrinium was negative before orchiectomy but positive after orchiectomy. Our observation demonstrates that in 46,XY subjects a male gender identity and a sexual orientation towards women can develop with a strikingly lower-than-normal level of biological action of androgens.
Similar content being viewed by others
References
Aono, T., Miyake, A., Kinugasa, T., Kurachi, K., and Matsumoto, K. (1978). Absence of positive feedback effect of oestrogen on LH-release in patients with testicular feminization syndrome.Acta Endocrinol. 87: 259–267.
Boyar, R. M., Moore, R. J., Rosner, W., Aiman, J., Chipman, J., Madden, J. D., Marks, J. F., and Griffin, J. E. (1978). Studies of gonadotropin-gonadal dynamics in patients with androgen sensitivity.J. Clin. Endocrinol. Metab. 47: 1116–1122.
Burton, K. (1956). A study of conditions and of the mechanisms of the diphenylamine reaction for the colorimetric estimation of deoxyribonucleic acid.Biochem. J. 62: 315–322.
Dörner, G. (1980). Sexual differentiation of the brain.Vitamin Horm. 38: 325–381.
Evans, B.A.J., Jones, T. R., and Hughes, I. A. (1984). Studies of the androgen receptor in dispersed fibroblasts: Investigation of patients with androgen insensitivity.Clin. Endocrinol. 20: 93–105.
Feder, H. H. (1984). Hormones and sexual behavior.Ann. Rev. Psychol. 35: 164–200.
Freund, K., Langevin, R., Satterberg, J., and Steiner, B. (1977). Extension of the gender identity scale for males.Arch. Sex. Behav. 6: 507–519.
Gladue, B. A., Green, R., and Hellman, R. E. (1984). Neuroendocrine response to estrogen and sexual orientation.Science 225: 1496–1498.
Goh, H. H., Wong, P. C., and Ratnam, S. S. (1985). Effects of sex steroids on the estrogen feedback mechanism in intact women and castrated men.J. Clin. Endocrinol. Metab. 61: 1158–1164.
Gooren, L.J.G. (1986). The neuroendocrine response of luteinizing hormone to estrogen administration in the human is not sex specific but dependent on the hormonal environment.J. Clin. Endocrinol. Metab. 63: 589–591.
Griffin, J. E., Punyashthiti, K., and Wilson, J. D. (1976). Dihydrotestosterone binding by cultured human fibroblasts. Comparison of cells from control subjects and from patients with hereditary male pseudohermaphroditism due to androgen resistance.J. Clin. Invest. 57: 1342–1351.
Griffin, J. E., and Wilson, J. D. (1977). Studies on the pathogenesis of the incomplete forms of androgen resistance in man.J. Clin. Endocrinol. Metab. 45: 1137–1143.
Griffin, J. E., and Wilson, J. D. (1980). The syndromes of androgen resistance.New Engl. J. Med. 302: 198–209.
Klein, F., Sepekoff, B., and Wolf, T. J. (1985). Sexual orientation: A multi-variate dynamic process.J. Homosex. 11: 35–49.
Lindgren, T. W., and Pauly, I. B., (1977). A body image scale for evaluating transsexuals.Arch. Sex. Behav. 6: 639–646.
Luteijn, F., Starren, J., and van Dijk, H. (1974).Handleiding Nederlandse persoonlijkheidsvragenlijst (NPV) Swets en Zeitlinger, Lisse, the Netherlands.
McDonald, P. C., Madden, J. D., Brenner, P. F., Wilson, J. D., and Siiteri, P. K. (1979). Origin of estrogen in normal men and women with testicular feminization.J. Clin. Endocrinol. Metab. 49: 905–916.
McEwen, B. S. (1981). Neural gonadal steroid actions.Science 211: 1303–1311.
Money, J. (1981). The development of sexuality and eroticism in humankind.Quart. Rev. Biol. 56: 379–404.
Money, J., Schwartz, M., and Lewis, V. G. (1984). Adult erotosexual status and fetal hormonal masculinization and demasculinization: 46,XX congenital virilizing adrenal hyperplasia and 46,XY androgen-sensitivity syndrome compared.Psychoneuroendocrinology 9: 405–414.
Naftolin, F., Pujol-Amat, P., Corner, C. S., Shane, I. M., Palomi, P. E., Kohlinksky, S., Yen, S.S.C., and Bobrow, M. (1983). Gonadotropins and gonadal steroids in androgen insensitivity testicular feminization syndrome. Effects of castration and sex steroid administration.Am. J. Obstet. Gynecol. 147: 491–496.
Olsen, K. L. (1979). Androgen-insensitive rats are defeminized by their testes.Nature 279: 238–239.
Schleicher, G., Stumpf, W. E., Morin, J. K., and Drews, U. (1986). Site of aromatization of [3H] testosterone in forebrain of male, female and androgen receptor-deficient Tfm mice: An autoradiographic study.Brain Res. 397: 290–296.
Shapiro, B. H., Levine, D. C., and Adler, N.T. (1980). The testicular feminized rat: A naturally occurring model of androgen independent brain masculinization.Science 209: 418–420.
Van Look, P.F.A., Hunter, W. M., Coirker, C. S., and Baird, D. R. (1977). Failure of positive feedback in normal men and subjects with testicular feminization.Clin. Endocrinol. 7: 353–357.
Van Strien, T. (1981). Beeld en zelfbeeld van vrouwen.De Psycholoog 16(11): 758–771.
Westphal, P. K., Stadelman, H. L., Horton, L. E., and Resko, J. A. (1984). Experimental induction of estradiol positive feedback in intact male monkeys: Absence of inhibition by physiologic concentration of testosterone.Biol. Reprod. 31: 856–860.
Wilson, J. D., George, F. W., and Griffin, J. E. (1981). The hormonal control of sexual development.Science 211: 278–1284.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Gooren, L., Cohen-Kettenis, P.T. Development of male gender identity/role and a sexual orientation towards women in a 46,XY subject with an incomplete form of the androgen insensitivity syndrome. Arch Sex Behav 20, 459–470 (1991). https://doi.org/10.1007/BF01542408
Issue Date:
DOI: https://doi.org/10.1007/BF01542408