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Psychosocial Functioning of Individuals with Sex Chromosome Abnormalities

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Abstract

This chapter reviews the extant literature pertaining to the psychosocial functioning of individuals who have sex chromosome abnormalities (SCA). Psychosocial research has generally been concerned with three relatively broad domains: gender identity and sexual functioning, psycho-pathology, and personality characteristics. The most extensive portion of the chapter contains reviews of these topics as they relate to each of the major SCA karyotypes. When appropriate, we have attempted to briefly discuss the early findings emanating primarily from studies of adults found in mental hospitals and penal institutions. Next, we summarize the results of more recent research with children, adolescents, and adults. Where available, we present the latest evidence that has emerged from prospective, longitudinal studies of unselected SCA individuals identified through screening of large newborn populations. This is followed by a discussion of methodological considerations and suggestions for future directions in research.

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References

  • Annell, A.L., Gustavson, K.H., & Tenstam, J. (1970). Symptomatology in schoolboys with positive sex chromatin (the Klinefelter’s syndrome). Acta Psychiatrica Scandinavia, 46, 71–80.

    Article  Google Scholar 

  • Baekgaard, W., Nyborg, H., & Nielsen, J. (1978). Neuroticism and extroversion in Turner’s syndrome. Journal of Abnormal Psychology, 87, 583–586.

    Article  PubMed  Google Scholar 

  • Bancroft, J., Axworthy, D., & Ratcliffe, S. (1982). The personality and psycho-sexual development of boys with 47,XXY chromosome constitution. Journal of Child Psychology and Psychiatry, 23, 169–180.

    Article  PubMed  Google Scholar 

  • Barr, M.L., Sergovich, F. R., Carr, D.H., Shaver, E.L. (1969). The triplo-X female: An appraisal based on a study of 12 cases and a review of the literature. The Canadian Medical Association Journal, 101, 247–258.

    Google Scholar 

  • Becker, K.L. (1972). Clinical and therapeutic experiences with Klinefelter’s syndrome. Fertility Sterility, 23, 568–578.

    Google Scholar 

  • Bender, B.G., & Berch, D.B. (1987). Sex chromosome abnormalities: Studies of genetic influences on behavior. Integrative Psychiatry, 5, 171–178.

    Google Scholar 

  • Bender, B.G., Puck, M.H., Salbenblatt, J.A., & Robinson, A. (1984). The development of four unselected 47,XYY boys. Clinical Genetics, 25, 435–445.

    Article  PubMed  Google Scholar 

  • Bender, B.G., Puck, M.H., Salbenblatt, J.A., & Robinson, A. (1988). Cognitive development of children with sex chromosome abnormalities. In C.S. Holmes (Ed.), Psychoneuroendocrinology: Brain, behavior, and hormonal interactions (pp. 138–163). New York: Springer-Verlag.

    Google Scholar 

  • Berch, D.B., & Kirkendall, K.L. (May, 1986). Spatial information processing in 45,X children. In A. Robinson (Chair), Cognitive and psychosocial dysfunctions associated with sex chromosome abnormalities. Symposium presented at the meeting of the American Association for the Advancement of Science, Philadelphia.

    Google Scholar 

  • Caldwell, P.D., & Smith, D.W. (1972). The XXY (Klinefelter’s) syndrome in childhood: Detection and treatment. Journal of Pediatrics, 80, 250–258.

    Article  PubMed  Google Scholar 

  • Caroff, S. (1978). Klinefelter’s syndrome and bipolar affective illness: A case report. American Journal of Psychiatry, 135, 748–749.

    PubMed  Google Scholar 

  • Crowley, T.J. (1965). Klinefelter’s syndrome and abnormal behavior: A case report. International Journal of Neuropsychiatry, 1, 359–363.

    PubMed  Google Scholar 

  • Darby, P.L., Garfinkle, P.E., Vale, J.M., Kirwan, P.J., & Brown, G.M. (1981). Anorexia nervosa and ‘Turner syndrome’: Cause or coincidence? Psychological Medicine, 11, 141–145.

    Article  PubMed  Google Scholar 

  • Ehrhardt, A.A., Greenberg, N., & Money, J. (1970). Female gender identity and absence of fetal hormones: Turner’s syndrome. Johns Hopkins Medical Journal, 126, 234–248.

    Google Scholar 

  • Funderburk, S.J., & Ferjo, N. (1978). Clinical observations in Klinefelter’s (47,XXY) syndrome. Journal of Mental Deficiency Research, 22, 207–212.

    PubMed  Google Scholar 

  • Garron, D.C., & Vander Stoep, L.R., (1969). Personality and intelligence in Turner’s syndrome. Archives of General Psychiatry, 21, 339–346.

    PubMed  Google Scholar 

  • Halmi, K.A., & DeBault, L.E. (1974). Gonosomal aneuploidy in anorexia nervosa. American Journal of Genetics, 26, 195–198.

    Google Scholar 

  • Hampson, J.L., Hampson, J.C., & Money, J. (1955). The syndrome of gonadal agenesis (ovarian agenesis) and male chromosomal pattern in girls and women: Psychologic studies. Bulletin of Johns Hopkins Hospital, 97, 207–226.

    Google Scholar 

  • Hauschka, T.S., Hasson, J.E., Goldstein, M.N., Koepf, G.F., & Sandberg, A.A. (1962). An XYY man with progeny indicating familial tendency to nondisjunction. American Journal of Human Genetics, 14, 22–30.

    PubMed  Google Scholar 

  • Hoaken, P.C.S., Clark M., & Breslin, M. (1964). Psychopathology in Klinefelter’s syndrome. Psychosomatic Medicine, 26, 207–223.

    PubMed  Google Scholar 

  • Jacobs, P.A., Brunton, M., Melville, M.M., Brittain, R.P., & McClemont, W.F. (1965). Aggressive behavior, mental subnormality and the XYY male. Nature, 208, 1351–1352.

    Article  PubMed  Google Scholar 

  • Kagan, J. (1965). Reflection-impulsivity and reading ability in primary grade children. Child Development, 36, 609–628.

    Article  Google Scholar 

  • Kay, T. (1983). Individual differences in children’s abilities to discriminate positive and negative affect. Unpublished doctoral dissertation, Emory University, Atlanta.

    Google Scholar 

  • Kron, T., Katz, J.L., Gorzynski, G., & Weiner, H. (1977). Anorexia nervosa and gonadal dysgenesis. Archives of General Psychiatry, 34, 332–335.

    PubMed  Google Scholar 

  • Kvale, J.N., & Fishman, J.R. (1981). The psychosocial aspects of Klinefelter’s syndrome. Journal of the American Medical Association, 193, 567–572.

    Google Scholar 

  • Luisi M., & Franchi, F. (1980). Double-blind group comparative study of testosterone undecanoate and mesterolone in hypogonadal male patients. Journal of Endocrinological Investigations, 3, 305–308.

    Google Scholar 

  • McCauley, E., Ito, J., & Kay, T. (1986a). Psychosocial functioning in girls with the Turner syndrome and short stature. Journal of the American Academy of Child Psychiatry, 25, 105–112.

    Article  PubMed  Google Scholar 

  • McCauley, E., Kay, T., Ito, J., & Treder, R. (1987). The Turner syndrome: Cognitive deficits, affective discrimination and behavior problems. Child Development, 58, 464–473.

    Article  PubMed  Google Scholar 

  • McCauley E., Sybert, V., & Ehrhardt, A.A. (1986b). Psychosocial adjustment of adult women with Turner syndrome. Clinical Genetics, 29, 284–290.

    Article  PubMed  Google Scholar 

  • Money, J., & Mittenthal, S. (1970). Lack of personality pathology in Turner syndrome: Relations to cytogenetics, hormones and physique. Behavior Genetics, 1, 43–56.

    Article  PubMed  Google Scholar 

  • Money, J., & Pollitt, E. (1964). Cytogenetic and psychosexual ambiguity: Klinefelter’s syndrome and transvestism compared. Archives of General Psychiatry, 11, 589–595.

    PubMed  Google Scholar 

  • Mosier, H.D., Scott, L.W., & Dingman, H.F. (1960). Sexually deviant behavior in Klinefelter’s syndrome. Journal of Pediatrics, 57, 479–483.

    Article  PubMed  Google Scholar 

  • Netley, C. (1986). Summary overview of behavioural development in individuals with neonatally identified X and Y aneuploidy. In S. G. Ratcliffe & N. Paul (Eds.), Prospective studies on children with sex chromosome aneuploidy (pp. 293–306). Birth defects: Original article series, Vol. 22, No. 3. New York: Alan R. Liss.

    Google Scholar 

  • Netley, C. (in press). Behavior and extra X aneuploid states. In D.B. Berch & B.G. Bender (Eds.), Sex chromosome abnormalities and behavior: Psychological studies. Boulder: Westview Press.

    Google Scholar 

  • Nielsen, J. (1970). Criminality among patients with Klinefelter’s syndrome and the XXY syndrome. British Journal of Psychiatry, 117, 365–369.

    Article  PubMed  Google Scholar 

  • Nielsen, J., Christensen, A.L., Schultz-Larsen, J., & Yde, H. (1973). A psychiatric-psycholgoical study of patients with the XYY syndrome found outside of institutions. Acta Psychiatrica Scandinavia, 49, 159–168.

    Article  Google Scholar 

  • Nielsen, J., Nyborg, H., & Dahl, G. (1977). Turner’s syndrome: A psychiatric-psychological study of 45 women with Turner’s syndrome, compared with their sisters and women with normal karyotypes, growth retardation and primary amenorrhea. Acta Jutlandica, XLV, Medicine Series 21, Arhus.

    Google Scholar 

  • Nielsen, J., & Pelsen, B. (1987). Follow-up 20 years later of 34 Klinefelter males with karyotype 47,XXY and 16 hypogonadal males with karyotype 46,XY. Human Genetics, 77, 188–192.

    Article  PubMed  Google Scholar 

  • Nielsen, J., & Sillesen, I. (1981). Turner’s syndrome in 115 Danish girls born between 1955 and 1966. Acta Jutlandica LIV, Medicine Series 22, Arhus.

    Google Scholar 

  • Nielsen, J., & Sorensen, K. (1984). The importance of early diagnosis of Klinefelter’s syndrome. In H.J. Bandman & R. Breit (Eds.), Klinefelter’s syndrome (pp. 170–187). NewYork: Springer-Verlag.

    Google Scholar 

  • Owen, D.R. (1972). The 47,XXY male: A review. Psychological Bulletin, 78, 209–233.

    Article  PubMed  Google Scholar 

  • Perheentupa, J., Lenko, H.L., Nevalainen, I., Nittymaki, M., Soderholm, A., & Taipale, V. (1974). Hormone therapy in Turner’s syndrome: Growth and psychological aspects. Pediatric XIV. Growth and Developmental Endocrinology, 5, 121–127,

    Google Scholar 

  • Peri, G., & Molinari, E. (1983). Psychological aspects in gonadal dysgenesis. Acta Medical Auxology, 15, 75–84.

    Google Scholar 

  • Puck, M.H. (1981). Some considerations bearing on the doctrine of self-fulfilling prophecy in sex chromosome aneuploidy. American Journal of Medical Genetics, 9, 129–137.

    Article  PubMed  Google Scholar 

  • Raboch, J., & Starka, L. (1973). Reported coital activity of men and levels of plasma testosterone. Archives of Sexual Behavior, 2, 309–316.

    Article  PubMed  Google Scholar 

  • Raft, D., Spencer, R. F., & Toey, T.C. (1976). Ambiguity of gender identity fantasies and aspects of normal and abnormal pathology in hypopituitary dwarfism and Turner syndrome: Three cases. Journal of Sex Research, 12, 161–172.

    Article  Google Scholar 

  • Ratcliffe, S., Bancroft, J., Axworthy, D., & McLaren, W. (1982). Klinefelter’s syndrome in adolescence. Archives of Diseases in Childhood, 57, 6–12.

    Google Scholar 

  • Ratcliffe, S.G., Jenkins, J., & Teague, P. (in press). Cognitive and behavioral development of the 47,XYY child. In D.B. Berch & B.G. Bender (Eds.), Sex chromosome abnormalities and behavior: Psychological studies. Boulder: Westview Press.

    Google Scholar 

  • Ratcliffe, S.G., & Paul, N. (Eds.), (1986). Prospective studies on children with sex chromosome aneuploidy. Birth defects: Original article series, Vol. 22, No. 3. New York: Alan R. Liss.

    Google Scholar 

  • Robinson, A., Bender, B.G., Borelli, J.B., Puck, M.H., Salbenblatt, J.A., & Winter, J.S.D. (1986). Sex chromosome aneuploidy: Prospective and longitudinal studies. In S.G. Ratcliffe & N. Paul (Eds)., Prospective studies on children with sex chromosome aneuploidy (pp. 23–73). Birth defects: Original article series, Vol. 22, No. 3. New York: Alan R. Liss.

    Google Scholar 

  • Rovet, J. (May, 1986). Processing deficits in 45, Xfemales. In A. Robinson (Chair), Cognitive and psychosocial dysfunctions asociated with sex chromosome abnormalities. Symposium presented at the meeting of the American Association for the Advancement of Science, Philadelphia.

    Google Scholar 

  • Rovet, J., & Netley, C. (1982). Processing deficits in Turner’ syndrome. Developmental Psychology, 18, 77–94.

    Article  Google Scholar 

  • Roy, A. (1984). Psychiatric disorders in relation to Klinefelter’ syndrome. In H.J. Bandman & R. Briet (Eds.), Klinefelter’s syndrome (pp. 192–201). New York: Springer-Verlag.

    Google Scholar 

  • Rutter, M., Tizard, J., & Whitmore, K. (1970). Education, health, and behaviour. London: Longmans Green.

    Google Scholar 

  • Sabbath, J.C., Morris, T.A., Menzer-Benaron, D., & Strugist, S.H. (1961). Psychiatric observation in adolescent girls lacking ovarian function. Psychosomatic Medicine, 23, 224–231.

    PubMed  Google Scholar 

  • Schiavi, R.C., Owen, D., Fogel, M., White, D., & Szechter, R. (1978). Pituitary-gonadal function in XYY and XXY men identified in a population survey. Clinical Endocrinology, 9, 223–239.

    Article  Google Scholar 

  • Schiavi, R.C., Theilgaard, A., Owen, D.R., & White, D. (1984). Sex chromosome anomalies, hormones, and aggressivity. Archives of General Psychiatry, 41, 93–99.

    PubMed  Google Scholar 

  • Schiavi, R.C., Theilgaard, A., Owen, D.R., & White, D. (1988). Sex chromosome anomalies, hormones, and sexuality. Archives of General Psychiatry, 45, 19–24.

    PubMed  Google Scholar 

  • Senzer, N., Aceto, T., Cohen, M.M., Ehrhardt, A. A., Abbassi, V., & Capraro, V.J. (1973). Isochromosome X. American Journal of Diseases of Children, 126, 312–316.

    PubMed  Google Scholar 

  • Shaffer, J. W. (1963). Masculinity-femininity and other personality traits in gonadal aplasia (Turner’s syndrome). In H.C. Beigel (Ed.), Advances in Sex Research (pp. 219–232). New York: P.P. Hoeber & Sons, Inc.

    Google Scholar 

  • Sonis, W.A., Levine-Ross, J., Blue, J., Cutler, G.B., Loriaux, P.L., & Klein, R.P. (October, 1983). Hyperactivity of Turner’s syndrome. Paper presented at the meeting of the American Academy of Child Psychiatry, San Francisco.

    Google Scholar 

  • Stewart, D.A., Bailey, J.D., Netley, C.T., Rovet, J. & Park, E. (1986). Growth and development from early to midadolescence of children with X and Y chromosome aneuploidy: The Toronto study. In S.G. Ratcliffe & N. Paul (Eds.), Prospective studies on children with sex chromosome aneuploidy (pp. 119–182). Birth defects: Original article series, Vol. 22, No. 3. New York: Alan R. Liss.

    Google Scholar 

  • Stewart, D.A., Netley, C.T., & Park, E. (1982). Summary of clinical findings of children with 47,XXY, 47,XYY, and 47,XXX karyotypes. In D.A. Stewart (Ed.), Children with sex chromosome aneuploidy: Follow-up studies (pp. 1–5). Birth defects: Original article series, Vol. 18, No. 4. New York: Alan R. Liss.

    Google Scholar 

  • Stott, D.H. (1976). Bristol social adjustment guides (5th ed.). London: Hodder & Stoughton.

    Google Scholar 

  • Taipale, V. (1979). Adolescence in Turner’s syndrome. Monograph from Children’s Hospital, University of Helsinki, Finland.

    Google Scholar 

  • Theilgaard, A. (1984). A psychological study of the personalities of XYY- and XXY-men. Acta Psychiatrica Scandinavica, 69(315).

    Google Scholar 

    Google Scholar 

  • Theilgaard, A. (in press). Men with sex chromosome aberrations—as subjects and human beings. In D.B. Berch & B.G. Bender (Eds.), Sex Chromosome Abnormalities and Behavior: Psychological studies. Boulder: Westview Press.

    Google Scholar 

  • Tucker, D.M., & Williamson, P.A. (1984). Asymmetric neural control systems in human self-regulation. Psychological Review, 91, 185–215.

    Article  PubMed  Google Scholar 

  • Wakeling, A. (1972). Comparative study of psychiatric patients with Klinefelter’s syndrome and hypogonadism. Psychosomatic Medicine, 2, 139–154.

    Google Scholar 

  • Walinder, J., & Melbin, G. (1977). Karyotyping of women with anorexia nervosa. British Journal of Psychiatry, 13, 48–49.

    Article  Google Scholar 

  • Witkin, H.A., Mednick, S.A., Schulsinger, F., Bakkestrom, E., Christiansen, K.O., Goodenough, D.R., Hirschhorn, K., Lundsteen, C., Owen, D.R., Philip, J., Rubin, D.B., & Stocking, M. (1976). Criminality in XYY and XXY men. Science, 193, 547–555.

    Article  PubMed  Google Scholar 

  • Wu, F.C.W., Bancroft, J., Davidson, D.W., & Nicol, K. (1982). The behavioural effects of testosterone undecanoate in adult men with Klinefelter’s syndrome: A controlled study. Clinical Endocrinology, 16, 489–497.

    Article  PubMed  Google Scholar 

  • Zeuthen, E., Hansen, M., Christensen, A.L., & Nielsen, J. (1975). A psychiatric-psychological study of XYY males found in a general male population. Acta Psychiatrica Scandinavia, 51, 3–18.

    Article  Google Scholar 

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Berch, D.B., McCauley, E. (1990). Psychosocial Functioning of Individuals with Sex Chromosome Abnormalities. In: Holmes, C.S. (eds) Psychoneuroendocrinology. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-3306-0_11

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  • DOI: https://doi.org/10.1007/978-1-4612-3306-0_11

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