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Klinefelter's syndrome in a three-year old severely disturbed child

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Abstract

A case study of a 3-year-old boy, said to be the youngest known Klinefelter patient (47 XXY) with severe psychopathology, mental retardation, and speech disorder is presented and discussed. The possibility of childhood schizophrenia was raised and a diagnosis of “emotional disturbance” formulated by other specialists on the basis of the child's stressful home environment. Pertinent psychiatric observations and laboratory findings are detailed and the interplay of environmental and biological factors related to the final diagnosis of Klinefelter's syndrome with borderline to mild retardation, dysarthria and a superimposed withdrawing reaction of childhood. The importance of complete diagnostic work-up, including cytogenetic studies, for retarded and/or severely disturbed children of preschool age is emphasized. Such studies showed sex chromosome anomalies in 2 out of 25 patients consecutively admitted to a psychiatric hospital nursery.

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References

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

    Google Scholar 

  • Becker, K. L., Hoffman, D. L., Albert, A., Underdahl, L. O., & Mason, H. L. Klinefelter's syndrome. Clinical and laboratory findings in 50 patients.Archives of Internal Medicine, 1966,118, 314–321.

    PubMed  Google Scholar 

  • Bender, L. Aggression in childhood.American Journal of Orthopsychiatry, 1943,13, 392–399.

    Google Scholar 

  • Bradbury, J. T., Bunge, R. G., & Boccabella, R. A. Chromatin test in Klinefelter's syndrome.Journal of Clinical Endocrinology and Matabolism, 1956,16, 689.

    Google Scholar 

  • Brazelton, T. B. Effect of prenatal drugs on the behavior of the neonate.American Journal of Psychiatry, 1970,126, 1261–1266.

    PubMed  Google Scholar 

  • Campbell, M., & Hersh, S. P. Observations on the vicissitudes of aggression in two siblings.Journal of Autism and Childhood Schizophrenia, 1971,1, 398–410.

    PubMed  Google Scholar 

  • Court Brown, W. M., Harnden, D. G., Jacobs, P. A. Maclean, N., & Mantle, D. J.Abnormalities of the sex chromosome complement in man. Medical Research Council Special Report Series No. 305. London: Her Majesty's Stationary Office, 1964.

    Google Scholar 

  • Ferguson-Smith, M. A. Chromatin-positive Klinefelter's syndrome (primary microorchidism) in a mental-deficiency hospital.Lancet, 1958,1, 928–931.

    PubMed  Google Scholar 

  • Ferguson-Smith, M. A. Cytogenetics in man.Archives of Internal Medicine, 1960,105, 627–639.

    PubMed  Google Scholar 

  • Ferguson-Smith, M. A., Johnston, A. W., & Handmaker, S. D. Primary amentia and micro-orchidism associated with an XXXXY sex chromosome constitution.Lancet, 1960,2, 184–187.

    PubMed  Google Scholar 

  • Ferguson-Smith, M. A., Mack, W. S., Ellis, P. M., Dickson, M., Sanger, R., & Race, R. R. Parental age and the source of the X chromosomes in XXY Klinefelter's syndrome.Lancet, 1964,1, 46.

    Google Scholar 

  • Freud, A., & Burlingham, D.Infants without families. New York: International Universities Press, 1944.

    Google Scholar 

  • Froebel, F. W. A.Die Menschenerziehung, die Erziehungs Unterrichts und Lehrkunst. Leipzig: Weinbrack, 1826.

    Google Scholar 

  • Gorski, R. A. Sexual differentiation of the hypothalamus. In H. C. Mack & A. I. Sherman (Eds.),Symposium on the physiology and pathology of human reproduction. Springfield, Ill.: Charles C Thomas, 1971.

    Google Scholar 

  • Israelsohn, W. J., & Taylor, A. I. Chromatin-positive presumed Klinefelter's syndrome. Survey of boys in London schools for educationally subnormal children.British Medical Journal, 1961,1, 633–635.

    Google Scholar 

  • Jacobs, P. A., & Strong, J. A. A case of human intersexuality having a possible XXY sex-determining mechanism.Nature, 1959,183, 302–303.

    PubMed  Google Scholar 

  • Kivowitz, J., & Corcoran, J. Theoretical and practical considerations of Klinefelter's syndrome in children. A report of three cases of 47 XXY.Journal of the American Academy of Child Psychiatry, 1971,10, 700–712.

    PubMed  Google Scholar 

  • Klinefelter, H. F. Reifenstein, E. C., & Albright, F. Syndrome characterized by gynecomastia, aspermatogenesis without a-leydigism, and increased excretion of follicle stimulating hormone.Journal of Clinical Endocrinology, 1942,2, 615–627.

    Google Scholar 

  • Lubs, H. A., & Ruddle, F. H. Chromosomal abnormalities in the human population: Estimation of rates based on New Haven newborn study.Science, 1970,169, 495–498.

    PubMed  Google Scholar 

  • Maclean, N., Mitchell, J. M., Harnden, D. G., Williams, J., Jacobs, P. A., Buckton, K. A., Baikie, A. G., Court Brown, W. M., McBride, J. A., Strong, J. A., Close, H. G., & Jones, D. C. A survey of sex-chromosome abnormalities among 4514 mental defectives.Lancet, 1962,1, 293–296.

    PubMed  Google Scholar 

  • Meyler, L., & Herxheimer, A. (Eds.)Side effects of drugs. Vol. 6. Baltimore: William & Wilkins, 1968.

    Google Scholar 

  • Money, J. Cytogenetic and psychosexual incongruities with a note on space-form blindness.American Journal of Psychiatry, 1963,119, 820–827.

    PubMed  Google Scholar 

  • Money, J. Behavior genetics: Principles, methods and examples from XO, XXY and XYY syndromes.Seminars in Psychiatry, 1970,2, 11–29.

    PubMed  Google Scholar 

  • Money, J., & Pollitt, E. Cytogenetic and psychosexual ambiguity.Archives of General Psychiatry, 1964,11, 589–595.

    PubMed  Google Scholar 

  • Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., & Hungerford, D. A. Chromosome preparations of leukocytes cultured from human peripheral blood.Experimental Cell Research, 1960,20, 613–616.

    PubMed  Google Scholar 

  • Mosier, H. D., Scott, L. W., & Cotter, L. H. The frequency of the positive sex-chromatin pattern in males with mental deficiency.Pediatrics, 1960,25, 291–297.

    PubMed  Google Scholar 

  • Nielsen, J. Prevalence of Klinefelter's syndrome in patients with mental disorders.Lancet, 1964,1, 1109.

    Google Scholar 

  • Nielsen, J. Klinefelter's syndrome in a neurological ward.Acta Neurologica Scandinavica, 1965,41, 197–214.

    PubMed  Google Scholar 

  • Nielsen, J., & Fischer, M. Sex-chromatin and sex-chromosome abnormalities in male hypogonadal mental patients.British Journal of Psychiatry, 1965,111, 641–647.

    PubMed  Google Scholar 

  • Nora, J. J., Nora, A. H., Sommerville, R. J., Hill, R. M., & McNamara, D. G. Maternal exposure to potential teratogens.Journal of the American Medical Association, 1967,202, 1065–1069.

    PubMed  Google Scholar 

  • Pasqualini, R. Q., Vidal, G., & Bur, G. E. Psychopathology of Klinefelter's syndrome. Review of thirty-one cases.Lancet, 1957,1, 164–167.

    Google Scholar 

  • Plunkett, E. R., & Barr, M. L. Cytologic tests of sex in congenital testicular hypoplasia.Journal of Clinical Endocrinology and Metabolism, 1956,16, 829–830.

    PubMed  Google Scholar 

  • Powell, P. D., & Johnstone, J. M. Phenmetrazine and foetal abnormalities.British Medical Joumal, 1962,2, 1327.

    Google Scholar 

  • Prader, A., Schneider, J., Francés, J. M., & Züblin, W. Frequency of the true (chromatin-positive) Klinefelter's syndrome.Lancet, 1958,1, 968–969.

    Google Scholar 

  • Ratcliffe, S. G., Melville, M. M., Stewart, A. L., & Jacobs, P. A. Chromosome studies on 3500 newborn male infants.Lancet, 1970,1, 121–122.

    PubMed  Google Scholar 

  • Roskamp, H. Zur psychopathologie des Klinefelter-syndroms.Archiv für Psychiatrie und Zeitschrift für die gesamte Neurologie, 1959,199, 330–344.

    Google Scholar 

  • Sergovich, F., Valentine, G. H., Chen, A. T. L., Kinch, R. A. H., & Smout, M. S. Chromosome aberrations in 2159 consecutive newborn babies.New England Journal of Medicine, 1969,280, 851–854.

    PubMed  Google Scholar 

  • Silver, A. A., & Hagin, R. A. Developmental language disability simulating mental retardation.Journal of the American Academy of Child Psychiatry, 1965,4, 485–494.

    Google Scholar 

  • Swanson, D. W., & Stipes, A. H. Psychiatric aspects of Klinefelter's syndrome.American Journal of Psychiatry, 1969,126, 814–822.

    PubMed  Google Scholar 

  • Walzer, S., Breau, G., & Gerald, P. S. A. Chromosome survey of 2400 normal newborn infants.Journal of Pediatrics, 1969,74, 437–448.

    Google Scholar 

  • Züblin, W. Zur psychologie des Klinefelter-syndroms.Acta Endocrinologica, 1953,14, 137–144.

    PubMed  Google Scholar 

  • Zuppinger, K., Engel, E., Forbes, A. P., Mantooth, L., & Claffey, J. Klinefelter's syndrome: A clinical and cytogenetic study in twenty-four cases.Acta Endocrinologica Supplementum, 1967,113, 5–48.

    Google Scholar 

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Authors and Affiliations

  1. New York University Medical Center, 550 First Avenue, 10016, New York, New York

    Magda Campbell, Sandra R. Wolman, Harry Breuer, Frank T. Miller & Barry B. Perlman

Authors
  1. Magda Campbell
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  2. Sandra R. Wolman
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  3. Harry Breuer
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  4. Frank T. Miller
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  5. Barry B. Perlman
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Additional information

This study was supported in part by Public Health Service Grant MH-04665 from the National Institute of Mental Health and in part by a grant from the Harriett Ames Charitable Trust.

The authors wish to express their thanks to Mrs. Rosalind R. Levy for the language and speech study, and Dr. Raphael R. David for the endocrine study.

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Campbell, M., Wolman, S.R., Breuer, H. et al. Klinefelter's syndrome in a three-year old severely disturbed child. J Autism Dev Disord 2, 34–48 (1972). https://doi.org/10.1007/BF01537625

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