Psychological Outcome in Congenital Adrenal Hyperplasia

  • Sheri A. Berenbaum
Part of the Serono Symposia USA book series (SERONOSYMP)

Abstract

Studies of psychological outcome in congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are important for three reasons.* First, this information helps in the medical management of the patients, as well as in educating patients and their families about the likely course and consequences of the disease. This is a particular concern in CAH because changes in physical appearance and growth (including virilization in girls and short stature in both boys and girls) may affect psychological development. Second, CAH provides a unique opportunity to examine the effects of prenatal and neonatal hormones on the development of the brain and behavior because individuals with CAH are exposed to high levels of androgen beginning early in gestation and continuing throughout important periods for brain development. Thus, studies of CAH allow us to confirm studies in nonhuman mammalian species, which indicate that gonadal hormones play a major role in the development of sex differences in behavior and in the brain (1,2). Third, resolutions of controversies in the treatment of girls with CAH depend on adequate data. This includes the benefits versus the costs of prenatal treatment and the best age for surgical reconstruction of virilized genitalia. These issues have become increasingly important with the addition of CAH to many state and national newborn screening programs and the increased number of cases detected (3,4).

Keywords

Corticosteroid Testosterone Progesterone Hull Androgen 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Arnold AP, Gorski RA. Gonadal steroid induction of structural sex differences in the central nervous system. Ann Rev Neurosci 1984; 7: 413–42.PubMedCrossRefGoogle Scholar
  2. 2.
    Goy RW, McEwen BS. Sexual differentiation of the brain. London: Oxford University Press, 1980.Google Scholar
  3. 3.
    Pang S, Clark A, et al. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: newborn screening and its relationship to the diagnosis and treatment of the disorder. Screening 1993; 2: 105–39.CrossRefGoogle Scholar
  4. 4.
    Therrell BL Jr., Berenbaum SA, Manter-Kapanke V, Simmank J, Korman K, Prentice L, et al. Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics 1998; 101: 583–90.PubMedCrossRefGoogle Scholar
  5. 5.
    Money J, Ehrhardt AA. Man and woman, boy and girl. Baltimore: Johns Hopkins University Press, 1972.Google Scholar
  6. 6.
    Ehrhardt AA, Baker SW. Fetal androgens, human central nervous system differentiation, and behavior sex differences. In: Friedman RC, Richart RR, Van de Weile RL, ed. Sex differences in behavior. New York: Wiley, 1974: 33–51.Google Scholar
  7. 7.
    Resnick, S. M. Psychological functioning in individuals with congenital adrenal hyperplasia: Early hormonal influences on cognition and personality. Unpublished doctoral dissertation, University of Minnesota, Minneapolis, 1982.Google Scholar
  8. 8.
    Berenbaum SA, Hines M. Early androgens are related to childhood sex-typed toy preferences. Psych Sci 1992; 3: 203–6.CrossRefGoogle Scholar
  9. 9.
    Hines M, Kaufman, F. Androgen and the development of human sex-typical behavior: rough-and-tumble play and sex of preferred playmates in children with congenital adrenal hyperplasia (CAH). Child Dev 1994; 65: 1042–53.PubMedCrossRefGoogle Scholar
  10. 10.
    Berenbaum SA, Snyder E. Early hormonal influences on childhood sex-typed activity and playmate preference: implications for the development of sexual orientation. Dev Psych 1995; 31: 31–42.CrossRefGoogle Scholar
  11. 11.
    Berenbaum SA, Resnick SM. Early androgen effects on aggression in children and adults with congenital adrenal hyperplasia. Psychoneuroendocrinology 1997; 22: 505–15.PubMedCrossRefGoogle Scholar
  12. 12.
    Leveroni C, Berenbaum SA. Early androgen effects on interest in infants: evidence from children with congenital adrenal hyperplasia. Dev Neuropsych 1998; 14: 321–40.CrossRefGoogle Scholar
  13. 13.
    Dittmann RW, Kappes MH, Kappes ME, Borger D, Stegner H, Willig RH, et al. Congenital adrenal hyperplasia I: gender-related behaviors and attitudes in female patients and their sisters. Psychoneuroendocrinology 1990; 15: 401–20.PubMedCrossRefGoogle Scholar
  14. 14.
    Meyer-Bahlburg HFL, Gruen RS, New MI, Bell JJ, Morishima A, Shimshi M, et al. Gender change from female to male in classical congenital adrenal hyperplasia. Horm Behav 1996; 30: 319–32.PubMedCrossRefGoogle Scholar
  15. 15.
    Monaghan EP, Glickman SE. Hormones and aggressive behavior. In: Becker JB, Breedlove SM, Crews D, eds. Behavioral endocrinology. Cambridge: MIT Press, 1992: 261–85.Google Scholar
  16. 16.
    Huston AC. Sex-typing. In: Mussen PH, ed. Handbook of child psychology: Vol. 4. Socialization, personality, and social development. New York: Wiley, 1983: 387–467.Google Scholar
  17. 17.
    Fitch RH, Denenberg VH. A role for ovarian hormones in sexual differentiation of the brain. Behav Brain Sci 1998; 21: 311–52.PubMedGoogle Scholar
  18. 18.
    Helleday J, Edman G, Ritzen EM, Siwers B. Personality characteristics and platelet MAO activity in women with congenital adrenal hyperplasia (CAH). Psychoneuroendocrinology 1993; 18: 343–54.PubMedCrossRefGoogle Scholar
  19. 19.
    Money J, Lewis V. IQ, genetics, and accelerated growth: adrenogenital syndrome. Bull Johns Hopkins Hosp 1966; 118: 365–73.Google Scholar
  20. 20.
    Baker SW, Ehrhardt AA. Prenatal androgen, intelligence, and cognitive sex differences. In: Friedman RC, Richart RR, Van de Weile RL, eds. Sex differences in behavior. New York: Wiley, 1974: 53–76Google Scholar
  21. 21.
    McGuire LS, Omenn GS. Congenital adrenal hyperplasia. I. Family studies of IQ. Behav Genet 1975; 5: 165–73.PubMedCrossRefGoogle Scholar
  22. 22.
    Nass R, Baker SW. Androgen effects on cognition: congenital adrenal hyperplasia. Psychoneuroendocrinology 1991; 16: 189–201.PubMedCrossRefGoogle Scholar
  23. 23.
    Halpern DF. Sex differences in cognitive abilities, second ed. Hillsdale, NJ: Erlbaum Associates.Google Scholar
  24. 24.
    Kramer JH, Delis DC, Daniel M. Sex differences in verbal learning. J Clin Psychol 1988; 44: 907–15.CrossRefGoogle Scholar
  25. 25.
    Hampson E, Rovet JF, Altmann, D. Spatial reasoning in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Dev Neuropsych 1998; 14: 299–320.CrossRefGoogle Scholar
  26. 26.
    Resnick SM, Berenbaum SA, Gottesman II, Bouchard TJ. Early hormonal influences on cognitive functioning in congenital adrenal hyperplasia. Dev Psych 1986; 22: 191–98.CrossRefGoogle Scholar
  27. 27.
    Berenbaum SA, Korman K, Leveroni C. Early hormones and sex differences in cognitive abilities. Learning Indiv Diffs 1995; 7: 303–21.CrossRefGoogle Scholar
  28. 28.
    Kimura D, Hampson E. Cognitive pattern in men and women is influenced by fluctuations in sex hormones. Curr Dir Psychol Sci 1994; 3: 57–61.CrossRefGoogle Scholar
  29. 29.
    LeVay S. The sexual brain. Cambridge: MIT Press, 1993.Google Scholar
  30. 30.
    Money J. Sin, sickness, or status? Homosexual gender identity and psychoneuroendocrinology. Am Psych 1987; 42: 384–99.CrossRefGoogle Scholar
  31. 31.
    Zucker KJ, Bradley SJ, Oliver G, Blake J, Fleming S, Hood J. Psychosexual development of women with congenital adrenal hyperplasia. Horm Behav 1996; 30: 300–18.PubMedCrossRefGoogle Scholar
  32. 32.
    Mulaikal RM, Migeon CJ, Rock JA. Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 1987; 316: 178–82.PubMedCrossRefGoogle Scholar
  33. 33.
    Slijper FME, van der Kamp HJ, Brandenburg H, de Muinck Keizer-Schrama SMPF, Drop SLS, Molenaar JC. Evaluation of psychosexual development of young women with congenital adrenal hyperplasia: a pilot study. J Sex EdTher 1992; 18: 200–7.Google Scholar
  34. 34.
    Donahoe PK, Schnitzer JJ. Evaluation of the infant who has ambiguous genitalia, and principles of operative management. Semin Ped Surg 1996; 5: 30–40.Google Scholar
  35. 35.
    Quadagno DM, Briscoe R, Quadagno JS. Effects of perinatal gonadal hormones on selected nonsexual behavior patterns: a critical assessment of the nonhuman and human literature. Psychol Bull 1977; 84: 62–80.PubMedCrossRefGoogle Scholar
  36. 36.
    Collaer ML, Hines M. Human behavioral sex differences: a role for gonadal hormones during early development? Psych Bull 1995; 118: 55–107.CrossRefGoogle Scholar
  37. 37.
    Reinisch JM, Ziemba-Davis M, Sanders SA. Hormonal contributions to sexually dimorphic behavioral development in humans. Psychoneuroendocrinology 1991; 16: 213–78.PubMedCrossRefGoogle Scholar
  38. 38.
    Berenbaum SA. How hormones affect behavioral and neural development: introduction to the special issue on “gonadal hormones and sex differences in behavior.” Dev Neuropsychol 1998; 14: 175–96.CrossRefGoogle Scholar
  39. 39.
    Hull EM, Franz JR, Snyder AM, Nishita JK. Perinatal progesterone and learning, social and reproductive behavior in rats. Physiol Behav 1980; 24: 251–56.PubMedCrossRefGoogle Scholar
  40. 40.
    Slijper FME. Androgens and gender role behavior in girls with congenital adrenal hyperplasia (CAH). In: DeVries JG, DeBruin JPC, Uylings HBM, Corner MA, eds. Progress in brain research, vol 61. Amsterdam: Elsevier, 1984: 417–22.Google Scholar
  41. 41.
    Goy RW, Bercovitch FB, McBrair MC. Behavioral masculinization is independent of genital masculinization in prenatally androgenized female rhesus macaques. Horm Behav 1988; 22: 552–71.PubMedCrossRefGoogle Scholar
  42. 42.
    Ehrhardt AA, Meyer-Bahlburg HFL. Effects of prenatal sex hormones on gender-related behavior. Science 1981; 211: 1312–18.PubMedCrossRefGoogle Scholar
  43. 43.
    Helleday J, Siwers B, Ritzen EM, Carlstrom K. Subnormal androgen and elevated progesterone levels in women treated for congenital virilizing 21-hydroxylase deficiency. J Clin Endocrinol Metab 1993; 76: 933–36.PubMedCrossRefGoogle Scholar
  44. 44.
    Dittmann RW, Kappes MH, Kappes ME, Borger D, Meyer-Bahlburg HFL, Stegner H, et al. Congenital adrenal hyperplasia II: gender-related behaviors and attitudes in female salt-wasting and simple-virilizing patients. Psychoneuroendocrinology 1990; 15: 421–34.PubMedCrossRefGoogle Scholar
  45. 45.
    Wedell A, Thilen A, Ritzen EM, Stengler B, Luthman H. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 1994; 78: 1145–52.PubMedCrossRefGoogle Scholar
  46. 46.
    Barnes RB, Rosenfield RL, Ehrmann DA, Cara JF, Cuttler L, Levitsky L, et al. Ovarian hyperandrogenism as a result of congenital adrenal virilizing disorders: evidence for perinatal masculinization of neuroendocrine function in women. J Clin Endocrinol Metab 1994; 79: 1328–33.PubMedCrossRefGoogle Scholar
  47. 47.
    Mercado AB, Wilson RC, Cheng KC, Wei J, New, MI. Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 1995; 80: 2014–20.PubMedCrossRefGoogle Scholar
  48. 48.
    Intersex Society of North America. Web page. www.isna.org 1997.Google Scholar
  49. 49.
    Berenbaum SA. Congenital adrenal hyperplasia: intellectual and psychosexual functioning. In: Holmes C, ed. Psychoneuroendocrinology: brain, behavior, and hormonal interactions. New York: Springer-Verlag, 1990: 227–60.Google Scholar
  50. 50.
    Kuhnle U, Bullinger M, Schwarz HP. The quality of life in adult female patients with congenital adrenal hyperplasia: a comprehensive study of the impact of genital malformations and chronic disease on female patients life. Eur J Ped 1995; 154: 708–16.CrossRefGoogle Scholar
  51. 51.
    Miller WL. The adrenal cortex. In: Rudolph AM, Hoffman JIE, Rudolph CD, Sagan P, eds. Rudolph’s pediatrics, twentieth ed. Stamford, CT: Appleton and Lange, 1996: 1711–42.Google Scholar
  52. 52.
    White PC, New MI, Dupont B. Congenital adrenal hyperplasia. N Engl J Med 1987; 316: 1519–24.PubMedCrossRefGoogle Scholar
  53. 53.
    Berenbaum SA. Effects of early androgens on sex-typed activities and interests in adolescents with congenital adrenal hyperplasia. Horm Behav 1999; 35: 102–10.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2000

Authors and Affiliations

  • Sheri A. Berenbaum

There are no affiliations available

Personalised recommendations