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Gender Dysphoria and Gender Change in Chromosomal Females with Congenital Adrenal Hyperplasia

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Abstract

This article reviews the literature on studies and case reports on gender identity and gender identity problems, gender dysphoria, and gender change in chromosomal females with congenital adrenal hyperplasia, raised male or female. The large majority (94.8%) of the patients raised female (N= 250) later developed a gender identity as girls and women and did not feel gender dysphoric. But 13 (5.2%) patients had serious problems with their gender identity. This percentage is higher than the prevalence of female-to-male transsexuals in the general population of chromosomal females. Among patients raised male, serious gender identity problems were reported in 4 (12.1%) out of 33 patients. From these observations, we conclude that the assignment to the female gender as a general policy for 46,XX patients with CAH appears justified, even in severely masculinized 46,XX newborns with CAH (Prader stage IV or V).

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References

  • Arnold, A. P. (2002). Concepts of genetic and hormonal induction of vertebrate sexual differentiation in the twentieth century, with special reference to the brain. In D. W. Pfaff, A. P. Arnold, A. M. Etgen, S. E. Fahrbach, & T. T. Rubin (Eds.), Hormones, brain and behavior (Vol. 4, pp. 105–135). Amsterdam: Academic Press (Elsevier Science).

    Google Scholar 

  • Bakker, A., van Kesteren, P. J. M., Gooren, L. J. G., & Bezemer, P. D. (1993). The prevalence of transsexualism in The Netherlands. Acta Psychiatrica Scandinavica, 87, 237–238.

    PubMed  Google Scholar 

  • Berenbaum, S. A. (2003). Management of children with intersex conditions: Psychological and methodological perspectives. Growth Genetics & Hormones, 19(1), 1–6.

    Google Scholar 

  • Berenbaum, S. A., & Bailey, J. M. (2003). Effect on gender identity of prenatal androgens and genital appearance: Evidence from girls with congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism, 88, 1102–1106.

    Article  PubMed  Google Scholar 

  • Chan-Cua, S., Freidenberg, G., & Jones, K. L. (1989). Occurence of male phenotype in genotypic females with congenital virilizing adrenal hyperplasia. American Journal Medical Genetics, 34, 406–412.

    Article  Google Scholar 

  • Collaer, M. L., & Hines, M. (1995). Human behavioral sex differences: A role for gonadal hormones during early development? Psycho- logical Bulletin, 118, 55–107.

    Google Scholar 

  • De Vries, G. J., & Simerly, R. B. (2002). Anatomy, development, and function of sexually dimorphic neural circuits in the mammalian brain. In D. W. Pfaff, A. P. Arnold, A. M. Etgen, S. E. Fahrbach, & T. T. Rubin (Eds.), Hormones, brain and behavior (Vol. 4, pp. 137–191). Amsterdam: Academic Press (Elsevier Science).

    Google Scholar 

  • Diamond, M., & Sigmundson, H. K. (1997). Management of intersexuality: Guidelines for dealing with persons with ambiguous genitalia. Archives of Pediatrics and Adolescent Medicine, 151, 1046–1050.

    PubMed  Google Scholar 

  • Dittmann, R. W. (1992). Body positions and movement patterns in female patients with congenital adrenal hyperplasia. Hormones and Behavior, 26, 441–456.

    Article  PubMed  Google Scholar 

  • Dittmann, R. W., Kappes, M. H., Kappes, M. E., Börger, D., Stegner, H., Willig, R. H., et al. (1990). Congenital adrenal hyperplasia I: Gender-related behavior and attitudes in female patients and sisters. Psychoneuroendocrinology, 15, 401–420.

    Article  PubMed  Google Scholar 

  • Ehrhardt, A. A., & Baker, S. W. (1974). Males and females with congenital adrenal hyperplasia: A family study of intelligence and gender-related behavior. In R. C. Friedman, R. M. Richart, & R. L. Vande Wiele (Eds.), Sex differences in behavior (pp. 33–51). New York: Wiley.

    Google Scholar 

  • Ehrhardt, A. A., Epstein, R., & Money, J. (1968). Fetal androgens and female gender identity in the early-treated adrenogenital syndrome. John Hopkins Medical Journal, 122, 160–167.

    Google Scholar 

  • Gillenwater, J. Y., Wyker, A. W., Birdsong, M., & Thornton, W. N. (1970). Adrenogenital syndrome producing female pseudoherma- phoriditism with a phallic urethra. Journal of Urology, 103, 500–504.

    PubMed  Google Scholar 

  • Hines, M. (2004). Psychosexual development in individuals who have female pseudohermaphroditism. Child and Adolescent Psychiatric Clinics of North America, 13, 641–656.

    Google Scholar 

  • Hines, M., Brook, C., & Conway, G. S. (2004). Androgen and psychosexual development: Core gender identity, sexual orienta- tion, and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH). Journal of Sex Research, 41, 75–81.

    PubMed  Google Scholar 

  • Hurtig, A. L., & Rosenthal, I. M. (1987). Psychological findings in early treated cases of female pseudohermaphroditism caused by virilizing congenital adrenal hyperplasia. Archives of Sexual Behavior, 16, 209–222.

    Article  PubMed  Google Scholar 

  • ISNA. http://www.isna.org.

  • Jones, H. W., & Scott, W. W. (1958). Hermaphroditism, genital anomalies, and related endocrine disorders. Baltimore, MD: Williams & Wilkins.

    Google Scholar 

  • McGuire, L. S., & Omenn, G. S. (1975). Congenital adrenal hyperplasia. I. Family studies of IQ. Behavior Genetics, 5, 165–173.

    Article  PubMed  Google Scholar 

  • McGuire, L. S., Ryan, K. O., & Omenn, G. S. (1975). Congenital adrenal hyperplasia. II. Cognitive and behavioral studies. Behavior Genetics, 5, 175–188.

    Article  PubMed  Google Scholar 

  • Madsen, P. O. (1963). Familial female pseudohermaphroditism with hypertension and penile urethra. Journal of Urology, 90, 466–469.

    PubMed  Google Scholar 

  • Meyer-Bahlburg, H. F. L. (2001). Gender and sexuality in classic congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics of North America, 30, 155–171.

    PubMed  Google Scholar 

  • Meyer-Bahlburg, H. F. L., Dolezal, C., Baker, S. W., Carlson, A. D., Obeid, J. S., & New, M. (2004). Prenatal androgenization affects gender-related behavior but not gender identity in 5–12-year old girls with congenital adrenal hyperplasia. Archives of Sexual Behavior, 33, 97–104.

    Article  PubMed  Google Scholar 

  • Meyer-Bahlburg, H. F. L., Gruen, R. S., New, M. I., Bell, J. J., Morishima, A., Shimshi, M., et al. (1996). Gender change from female to male in classical congenital adrenal hyperplasia. Hormones and Behavior, 30, 319–332.

    Article  PubMed  Google Scholar 

  • Money, J. (1968). Sex errors of the body. Baltimore, MD: Johns Hopkins Press.

    Google Scholar 

  • Money, J., & Daléry, J. (1976). Iatrogenic homosexuality: Gender identity in seven 46,XX chromosomal females with hyperadrenocortical hermaphroditism born with a penis, three reared as boys, four reared as girls. Journal of Homosexuality, 1, 357–371.

    Article  PubMed  Google Scholar 

  • Money, J., Hampson, J. G., & Hampson, J. L. (1955). Hermaphroditism: Recommendations concerning assignment of sex, change of sex, and psychologic management. Bulletin of the Johns Hopkins Hospital, 97, 284–300.

    PubMed  Google Scholar 

  • Money, J., Hampson, J. G., & Hampson, J. L. (1957). Imprinting and the establishment of gender role. Archives of Neurology and Psychiatry, 77, 333–336.

    Google Scholar 

  • Peris, L. A. (1960). Congenital adrenal hyperplasia producing female ermaphroditism with phallic urethra. Obstetrics and Gynecology, 16, 156–166.

    PubMed  Google Scholar 

  • Redman, J. F., & Gould, J. B. (1972). Extreme virilization in a karyotypic female subject with congenital adrenocortical hyperplasia. Journal of Urology, 108, 500–501.

    PubMed  Google Scholar 

  • Rösler, A., & Leiberman, E. (1984). Enzymatic defects of steroido-genesis: 11β-hydroxylase deficiency congenital adrenal hyper- plasia. Pediatric and Adolescent Endocrinology, 13, 47–71.

    Google Scholar 

  • Slijper, F. M. E. (1983). Genderrolgedrag bij meisjes met congenitale adrenogenitale hyperplasie. Doctoral dissertation, Erasmus University Rotterdam, The Netherlands.

  • Slijper, F. M. E. (1984). Androgens and gender role behaviour in girls with congenital adrenal hyperplasia (CAH). Progress in Brain Research, 61, 417–422.

    PubMed  Google Scholar 

  • Slijper, F. M. E., Drop, S. L. S., Molenaar, J. C., & de Muinck Keizer-Schrama, S. M. P. F. (1998). Long-term psychological evaluation of intersex children. Archives of Sexual Behavior, 27, 125–144.

    Article  PubMed  Google Scholar 

  • Speiser, P. W. (2001). Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Endocrinology and Metabolism Clinics in North America, 30, 31–59.

    Google Scholar 

  • Speiser, P. W., & White, P. C. (2003). Congenital adrenal hyperplasia. New England Journal of Medicine, 349, 776–788.

    Article  PubMed  Google Scholar 

  • Sripathi, V., Ahmed, S., Sakati, N., & al-Ashwal, A. (1997). Gender reversal in 46XX congenital virilizing adrenal hyperplasia. British Journal of Urology, 79, 785–789

    PubMed  Google Scholar 

  • Therrell, B. L. (2001). Newborn screening for congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics of North America, 30, 15–30.

    PubMed  Google Scholar 

  • Van der Kamp, H. J., Noordam, C., Elvers, L. H., Van Baarle, W., Otten, B. J., & Verkerk, P. H. (2001). Newborn screening for congenital adrenal hyperplasia in the Netherlands. Pediatrics, 108, 1320–1324.

    Article  PubMed  Google Scholar 

  • White, P. C., & Speiser, P. W. (2000). Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocrine Reviews, 21, 245–291.

    Article  PubMed  Google Scholar 

  • Wilkins, L. (1957). The diagnosis and treatment of endocrine disorders in childhood and adolescence (2nd ed.). Springfield, IL: Charles C Thomas.

    Google Scholar 

  • Wölfle, J., Höpffner, W., Sippell, W. G., Brämswig, J. H., Heidemann, P., Deiβ, D., et al. (2002). Complete virilization in congenital adrenal hyperplasia: Clinical course, medical management and disorder-related complications. Clinical Endocrinology, 56, 231–238.

    Article  PubMed  Google Scholar 

  • Wyatt, D. T., Chasalow, F. I., Granoff, A. B., & Blethen, S. L. (1987). Complete masculinization of the external genitalia in a chromosomal female with non-salt-losing 21-hydroxylase deficiency. Journal of Pediatric Endocrinology, 2, 35–38.

    Google Scholar 

  • Zucker, K. J. (1999). Intersexuality and gender identity differentiation. Annual Review of Sex Research, 10, 1–69.

    PubMed  Google Scholar 

  • Zucker, K. J. (2005). Measurement of psychosexual differentiation. Archives of Sexual Behavior, 34, 375–388.

    Google Scholar 

  • Zucker, K. J., Bradley, S. J., Oliver, G., Blake, J., Fleming, S., & Hood, J. (1996). Psychosexual development in women with congenital adrenal hyperplasia. Hormones and Behavior, 30, 300–318.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Pediatrics Department, Division of Pediatric Endocrinology, Erasmus Medical Centre, Sophia Children’s Hospital, Room SP-3435, POB 2060, 3000 CB, Rotterdam, The Netherlands

    Arianne B. Dessens Ph.D., Froukje M. E. Slijper Ph.D. & Stenvert L. S. Drop M.D., Ph.D.

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  1. Arianne B. Dessens Ph.D.
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  2. Froukje M. E. Slijper Ph.D.
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  3. Stenvert L. S. Drop M.D., Ph.D.
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Dessens, A.B., Slijper, F.M.E. & Drop, S.L.S. Gender Dysphoria and Gender Change in Chromosomal Females with Congenital Adrenal Hyperplasia. Arch Sex Behav 34, 389–397 (2005). https://doi.org/10.1007/s10508-005-4338-5

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