Valor do estudo citogenetico no transexualismo

Saldanha, P. H.; Olazábal, Luiza Campos

doi:10.1590/S0004-282X1976000300005

Resumos

O transexualismo é caracterizado como uma entidade psiquiátrica, distinta do homossexualismo e travestismo, revendo-se suas manifestações sindrômicas. Discutem-se as duas principais causas etiológicas plausíveis do transexualismo, a saber: a hipótese psicoanalítica fundamentada na regressão psicossexual com estampagem da figura materna e o modelo neuro-endócrino que pressupõe alterações nos centros de identidade sexual do hipotámo. Com base nesta última explicação propõe-se, a exemplo do que parece ocorrer na síndrome de Morris, cujas células (XY) não respondem ao efeito masculinizante da testosterona plasmática, que os transexuais devem possuir mosaicismo detectável ou críptico, quanto aos cromossomos sexuais, nos centros hipotalâmicos de identidade sexual que não respondem à secreção androgênica produzida pela gônada primitiva. Esta possibilidade explicaria a excessiva prevalência da síndrome entre homens, bem como a sua manifestação com feições típicas no sexo masculino e ainda a ocorrência esporádica da síndrome. O estudo citogenético revelou que a frequência (32%) de mosaicismo quanto aos cromossomos sexuais em 25 transexuais é estatisticamente superior aos valores observados em 14 homossexuais e 40 controles normais, nos quais a proporção de mosaicismo é praticamente nula. Considera-se a possibilidade do critério cariotípico constituir valioso subsídio na diagnose da síndrome.

By reviewing the syndromic manifestation, transsexualism in characterized as a psychiatric entity, apart from homossexualism and transvestism. The two main feasible etiologic causes of transsexualism are discussed: the psychoanalytical hypothesis based upon psycossexual regression with imprinting of maternal figure and the neuroendocrine model which assumes alterations of the gender role identity centers in the hypothalamus. On the grounds of the latter explanation and after the scheme that seems to occur in the Morris syndrome whose cells (XY) do not respond to the masculinizing effect of plasma testosterone, it is proposed that transsexuals should possess detectable or cryptic sex-chromosome mosaicism affecting hypothalamic centers of gender role identity which do not respond to the androgenic secretion produced by primitive gonad. This possibility explains the excessive prevalence of the syndrome among men, its typical features in the male as well as its sporadic occurrence. Cytogenetic investigation reveals that the frequency (32%) of sex-chromosome mosaicism among 25 transsexuals and 40 normal control people, both groups presenting the proportion of the mosaicism practically null. The karyotypic criterion as a valuable aid in the syndrome diagnosis is considered.

Valor do estudo citogenetico no transexualismo

Value of cytogenetic study in transsexualism

P. H. Saldanha^I; Luiza Campos Olazábal^II

^IProfessor Adjunto do Depto. de Biologia do Instituto de Biociências e Chefe do Laboratório de Genética Médica da Faculdade de Medicina da USP

^IIEx-bolsista da FAPESP

RESUMO

O transexualismo é caracterizado como uma entidade psiquiátrica, distinta do homossexualismo e travestismo, revendo-se suas manifestações sindrômicas. Discutem-se as duas principais causas etiológicas plausíveis do transexualismo, a saber: a hipótese psicoanalítica fundamentada na regressão psicossexual com estampagem da figura materna e o modelo neuro-endócrino que pressupõe alterações nos centros de identidade sexual do hipotámo. Com base nesta última explicação propõe-se, a exemplo do que parece ocorrer na síndrome de Morris, cujas células (XY) não respondem ao efeito masculinizante da testosterona plasmática, que os transexuais devem possuir mosaicismo detectável ou críptico, quanto aos cromossomos sexuais, nos centros hipotalâmicos de identidade sexual que não respondem à secreção androgênica produzida pela gônada primitiva. Esta possibilidade explicaria a excessiva prevalência da síndrome entre homens, bem como a sua manifestação com feições típicas no sexo masculino e ainda a ocorrência esporádica da síndrome. O estudo citogenético revelou que a frequência (32%) de mosaicismo quanto aos cromossomos sexuais em 25 transexuais é estatisticamente superior aos valores observados em 14 homossexuais e 40 controles normais, nos quais a proporção de mosaicismo é praticamente nula. Considera-se a possibilidade do critério cariotípico constituir valioso subsídio na diagnose da síndrome.

SUMMARY

By reviewing the syndromic manifestation, transsexualism in characterized as a psychiatric entity, apart from homossexualism and transvestism. The two main feasible etiologic causes of transsexualism are discussed: the psychoanalytical hypothesis based upon psycossexual regression with imprinting of maternal figure and the neuroendocrine model which assumes alterations of the gender role identity centers in the hypothalamus. On the grounds of the latter explanation and after the scheme that seems to occur in the Morris syndrome whose cells (XY) do not respond to the masculinizing effect of plasma testosterone, it is proposed that transsexuals should possess detectable or cryptic sex-chromosome mosaicism affecting hypothalamic centers of gender role identity which do not respond to the androgenic secretion produced by primitive gonad. This possibility explains the excessive prevalence of the syndrome among men, its typical features in the male as well as its sporadic occurrence. Cytogenetic investigation reveals that the frequency (32%) of sex-chromosome mosaicism among 25 transsexuals and 40 normal control people, both groups presenting the proportion of the mosaicism practically null. The karyotypic criterion as a valuable aid in the syndrome diagnosis is considered.

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Departamento de Biologia Instituto de Biociências Faculdade de Medicina Universidade de São Paulo Caixa Postal 2921 01000 São Paulo, SP Brasil.

Trabalho apresentado ao Simpósio sobre "Transexualismo", patrocinado pelo Depto. de Urologia da Associação Paulista de Medicina, em 25 de março de 1975.

1. BALL, J. R. B. A case of hair fetishism, transvestism and organic cerebral disorders. Acta Psychat. Scand. 44:251, 1968.
2. BARR, M. L. & HOBBS, G. E. Chromosomal sex in transvestites. Lancet i:1109, 1954.
3. BENJAMIN, H. Transsexualism and transvestims as pycho-somatic and somato-psychic syndromes. Amer. J. Psychother. 8:219, 1954.
4. BENJAMIN, H. The Transsexual Phenomenon. Julian Press, New York, 1966.
5. BENJAMIN, H. The transsexual phenomenon. Trans N.Y. Acad. Sci., 29: 428, 1967.
6. CHILTON, B. Psychosexual development in twins. J. Biosoc. Sci. 4:277, 1972.
7. CONNELL, P. H. Transsexuality. Brit. Med. Bull, i:873, 1966.
8. DARKE, R. A. Heredity as an etological factor in homosexuality. J. Nerv. Ment. Dis. 107:251, 1948.
9. DELLAERT, R. & KUMKE, Th. Investigation on a case of male transsexualism. Psychother. a. Psychosom. 17:89, 1969.
10. DOORBAR, R. R. Psychological testing of transsexuals: a brief report of results from the Weschler Adult Intelligence Scale, the Thematic Apperception Test and the House-three-person Test. Trans. N.Y. Acad. Sci. 29:455, 1967.
11. DÖRNER, G. The influence of sex hormones during the hypothalamic differentiation and maturation phases on gonadal function and sexual behavior during the hypothalamic functional phase. Endocrinology 56:280, 1970.
12. DÖRNER, G.; DÖCKE, F. & HINZ, G. Homo e hypersexuality in rats with hypothalamic lesions. Neuroendocrinology 4:20, 1969.
13. ELLIS, H. Eonism. In Studies on the Psychology of Sex. F.A. Davis, New York, 1928.
14. FLERKÓ, B.; PERUSZ, P. & TIMA, L. On the mechanism of sexual differentiation of the hypothalamus. Factors influencing the "critical period" of the rat. Acta Biol. Hung. 18:27, 1967.
15. GORSKI, R. A. & WHELAN, R. E. (eds.) Brain and Behavior. Berkeley, University of California Press, 1966.
16. GREEN, R. Physician emotionalism in the treatment of the transsexual. Trans. N.Y. Acad. Sli. 29:440, 1967.
17. GREEN, R. Childhood cross-gender identification. J. Nev. Ment. Dis. 147: 500, 1968.
18. GREEN, R.; STOLLER, R. J. & MAC ANDREW, C. Attitudes toward sex transformation procedures. Arch. Gen. Psychiat. 15:178, 1966.
19. GUZE, H. The transsexual patient: a problem in self-perception. Trans. N.Y. Acad. Sci. 29:464, 1967.
20. HOENIG, J. & TORR, B. D. Karyotyping of transsexualists. J. Psychosomatic Res. 8:157, 1964.
21. HOENIG, J.; KENNA, J. C. & YOUD, A. Surgical treatment for transsexualism. Acta Psychiat. Scand. 47:106, 1971.
22. IONESCU, B.; MAXIMILIAN, C. & BUCUR, A. Two cases of transsexualism with gonadal dysgenesis. Brit. J. Psychiat. 119:311, 1971.
23. JAMES, S.; ORWIN, A. & DAMES, D. W. Sex chromosome abnormality in the patient with transsexualism. Brit. Med. J. 3:29, 1972.
24. JONES Jr., H. W.; SCHIRMER, H. K. A. & HOOPER, J. E. A sex convertion operation for males with transsexualism. Amer. J. Obst. Gynec. 100: 101, 1968.
25. KALLMANN, F. J. Twin and sibship study of overt male homosexaulity. Amer. J. Hum. Genet. 4:136, 1952(a).
26. KALLMANN, F. J. Comparative twin studies on the genetic aspects of male homosexuality. J. Nerv. Ment. Dis: 115:283, 1952(b).
27. KINSEY, A. C.; POMEROY, W. B. & MARTIN, C. E. Sexual Behavior in the Human Male. Saunders, Philadelphia, 1948.
28. KUPPERMAN, H. S. The endocrine status of the transsexual patient. Trans. N.Y. Acad. Sci. 29:434, 1967.
29. LANG, T. Studies on the genetic determination of homosexuality. J. Nerv. Ment. Dis. 92:55, 1940.
30. LEVINE, S. Sex differences in the brain. Sci. Amer. 214:84, 1966.
31. MIGEON, C. J.; RIVAROLA, M. A. & FOREST, M. G. Studies of androgens in transsexual subjects. Effect of estrogen therapy. Johns Hopkins Med. J. 123:128, 1968.
32. MONEY, J. & CLOPPER Jr., R. R. Psychosocial and psychosexual aspects of errors of pubertal onset and development. Human Biol. 46:173, 1974.
33. MONEY, J. & EPSTEIN, R. Verbal aptitude in eonism and pre-pubertal effeminacy a feminine trait. Trans. N.Y. Acad. Sci. 29:448, 1967.
34. MONEY, J. & POLLITT, E. Cytogenetic and psychosexual ambiguity. Klinefelter's syndrome and transvestism compared. Arch. Gen. Psychiat. 11: 589, 1964.
35. MORRIS, J. M. & MAHESH, J. B. Further observation on the syndrome, "testicular feminization". Amer. J. Obst. Gynec. 87:731, 1963.
36. OLAZÁBAL, L. C. & SALDANHA, P. H. Citogenética do transexualismo. XXVII Reunião anual de S.B.P.C., Belo Horizonte, suppl., Ciência e Cult. 27: 233, 1975.
37. PAULY, I. B. Male psychosexual inversion: transsexualism: a review of 100 cases. Arch. Gen. Psychiat. 13:172, 1965.
38. PAULY, I. B. The current status of the change of sex operation. J. Nerv. Ment. Dis. 147:460, 1968.
39. POMEROY, W. B. A report on the transsexual histories of twenty-five transsexuals. Trans. N.Y. Acad. Sci. 29:444, 1967.
40. RANDELL, J. B. Transvestism and transsexualism: a study of 50 cases. Brit. Med. Bull. ii:1448, 1959.
41. ROSENBERG, B. G. & SUTONT-SMITH, B. Family interaction effects on masculinity-feminity. J. Personal. Soc. Psychol. 8:117, 1968.
42. ROSENBERG, B. G. & SUTOTN-SMITH, B. Sex-role identity and sibling composition. J. Genet. Psychiat. 118:29, 1971.
43. SALDANHA, P. H. & OLAZÁBAL, L. C. Estudo genético e psicológico do transexualismo. XXIII Reunião Anual da S.B.P.C., Paraná. Resumos, p. 115, 1971.
44. SALDANHA, P. H. & OLAZÁBAL, L. C. Genética e transexualismo. An. XIV Congr. Inter. Psicol. São Paulo, Resumo, p. 716, 1973.
45. SOCARIDES, C. W. A psychoanalitic study of the desire for sexual transformation ("transsexualism"): the plaster-of-Paris man. Inter. J. Psichosanl. 51:341, 1970.
46. STOLLER, R. J. Etiological factors in male transsexualism. Trans. N.Y. Acad. Sci. 29:431, 1967.
47. STOLLER, R. J. A further contribution to the study of gender identity. Inter. J. Psycho-Anal. 49:364, 1968.
48. WALLINDER, J. Transvestism, definition and evidence in favor of occasional derivation from cerebral dysfuntion. Inter. Neuropsychiat. 1:567, 1965.
49. WEITZMAN, E. L.; SHAMOIAN, C. A. & GOLOSOW, N. Identity difuslon and transsexual resolution. J. Nerv. Ment. Dis. 151:295, 1970.
50. WOLLMAN, L. Transsexualism: gynecologic aspects. Trans. N.Y. Acad. Sci. 29:463, 1967.

Datas de Publicação

Publicação nesta coleção
26 Fev 2013
Data do Fascículo
Set 1976

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. BALL, J. R. B. A case of hair fetishism, transvestism and organic cerebral disorders. Acta Psychat. Scand. 44:251, 1968.

[2] 2. BARR, M. L. & HOBBS, G. E. Chromosomal sex in transvestites. Lancet i:1109, 1954.

[3] 3. BENJAMIN, H. Transsexualism and transvestims as pycho-somatic and somato-psychic syndromes. Amer. J. Psychother. 8:219, 1954.

[4] 4. BENJAMIN, H. The Transsexual Phenomenon. Julian Press, New York, 1966.

[5] 5. BENJAMIN, H. The transsexual phenomenon. Trans N.Y. Acad. Sci., 29: 428, 1967.

[6] 6. CHILTON, B. Psychosexual development in twins. J. Biosoc. Sci. 4:277, 1972.

[7] 7. CONNELL, P. H. Transsexuality. Brit. Med. Bull, i:873, 1966.

[8] 8. DARKE, R. A. Heredity as an etological factor in homosexuality. J. Nerv. Ment. Dis. 107:251, 1948.

[9] 9. DELLAERT, R. & KUMKE, Th. Investigation on a case of male transsexualism. Psychother. a. Psychosom. 17:89, 1969.

[10] 10. DOORBAR, R. R. Psychological testing of transsexuals: a brief report of results from the Weschler Adult Intelligence Scale, the Thematic Apperception Test and the House-three-person Test. Trans. N.Y. Acad. Sci. 29:455, 1967.

[11] 11. DÖRNER, G. The influence of sex hormones during the hypothalamic differentiation and maturation phases on gonadal function and sexual behavior during the hypothalamic functional phase. Endocrinology 56:280, 1970.

[12] 12. DÖRNER, G.; DÖCKE, F. & HINZ, G. Homo e hypersexuality in rats with hypothalamic lesions. Neuroendocrinology 4:20, 1969.

[13] 13. ELLIS, H. Eonism. In Studies on the Psychology of Sex. F.A. Davis, New York, 1928.

[14] 14. FLERKÓ, B.; PERUSZ, P. & TIMA, L. On the mechanism of sexual differentiation of the hypothalamus. Factors influencing the "critical period" of the rat. Acta Biol. Hung. 18:27, 1967.

[15] 15. GORSKI, R. A. & WHELAN, R. E. (eds.) Brain and Behavior. Berkeley, University of California Press, 1966.

[16] 16. GREEN, R. Physician emotionalism in the treatment of the transsexual. Trans. N.Y. Acad. Sli. 29:440, 1967.

[17] 17. GREEN, R. Childhood cross-gender identification. J. Nev. Ment. Dis. 147: 500, 1968.

[18] 18. GREEN, R.; STOLLER, R. J. & MAC ANDREW, C. Attitudes toward sex transformation procedures. Arch. Gen. Psychiat. 15:178, 1966.

[19] 19. GUZE, H. The transsexual patient: a problem in self-perception. Trans. N.Y. Acad. Sci. 29:464, 1967.

[20] 20. HOENIG, J. & TORR, B. D. Karyotyping of transsexualists. J. Psychosomatic Res. 8:157, 1964.

[21] 21. HOENIG, J.; KENNA, J. C. & YOUD, A. Surgical treatment for transsexualism. Acta Psychiat. Scand. 47:106, 1971.

[22] 22. IONESCU, B.; MAXIMILIAN, C. & BUCUR, A. Two cases of transsexualism with gonadal dysgenesis. Brit. J. Psychiat. 119:311, 1971.

[23] 23. JAMES, S.; ORWIN, A. & DAMES, D. W. Sex chromosome abnormality in the patient with transsexualism. Brit. Med. J. 3:29, 1972.

[24] 24. JONES Jr., H. W.; SCHIRMER, H. K. A. & HOOPER, J. E. A sex convertion operation for males with transsexualism. Amer. J. Obst. Gynec. 100: 101, 1968.

[25] 25. KALLMANN, F. J. Twin and sibship study of overt male homosexaulity. Amer. J. Hum. Genet. 4:136, 1952(a).

[26] 26. KALLMANN, F. J. Comparative twin studies on the genetic aspects of male homosexuality. J. Nerv. Ment. Dis: 115:283, 1952(b).

[27] 27. KINSEY, A. C.; POMEROY, W. B. & MARTIN, C. E. Sexual Behavior in the Human Male. Saunders, Philadelphia, 1948.

[28] 28. KUPPERMAN, H. S. The endocrine status of the transsexual patient. Trans. N.Y. Acad. Sci. 29:434, 1967.

[29] 29. LANG, T. Studies on the genetic determination of homosexuality. J. Nerv. Ment. Dis. 92:55, 1940.

[30] 30. LEVINE, S. Sex differences in the brain. Sci. Amer. 214:84, 1966.

[31] 31. MIGEON, C. J.; RIVAROLA, M. A. & FOREST, M. G. Studies of androgens in transsexual subjects. Effect of estrogen therapy. Johns Hopkins Med. J. 123:128, 1968.

[32] 32. MONEY, J. & CLOPPER Jr., R. R. Psychosocial and psychosexual aspects of errors of pubertal onset and development. Human Biol. 46:173, 1974.

[33] 33. MONEY, J. & EPSTEIN, R. Verbal aptitude in eonism and pre-pubertal effeminacy a feminine trait. Trans. N.Y. Acad. Sci. 29:448, 1967.

[34] 34. MONEY, J. & POLLITT, E. Cytogenetic and psychosexual ambiguity. Klinefelter's syndrome and transvestism compared. Arch. Gen. Psychiat. 11: 589, 1964.

[35] 35. MORRIS, J. M. & MAHESH, J. B. Further observation on the syndrome, "testicular feminization". Amer. J. Obst. Gynec. 87:731, 1963.

[36] 36. OLAZÁBAL, L. C. & SALDANHA, P. H. Citogenética do transexualismo. XXVII Reunião anual de S.B.P.C., Belo Horizonte, suppl., Ciência e Cult. 27: 233, 1975.

[37] 37. PAULY, I. B. Male psychosexual inversion: transsexualism: a review of 100 cases. Arch. Gen. Psychiat. 13:172, 1965.

[38] 38. PAULY, I. B. The current status of the change of sex operation. J. Nerv. Ment. Dis. 147:460, 1968.

[39] 39. POMEROY, W. B. A report on the transsexual histories of twenty-five transsexuals. Trans. N.Y. Acad. Sci. 29:444, 1967.

[40] 40. RANDELL, J. B. Transvestism and transsexualism: a study of 50 cases. Brit. Med. Bull. ii:1448, 1959.

[41] 41. ROSENBERG, B. G. & SUTONT-SMITH, B. Family interaction effects on masculinity-feminity. J. Personal. Soc. Psychol. 8:117, 1968.

[42] 42. ROSENBERG, B. G. & SUTOTN-SMITH, B. Sex-role identity and sibling composition. J. Genet. Psychiat. 118:29, 1971.

[43] 43. SALDANHA, P. H. & OLAZÁBAL, L. C. Estudo genético e psicológico do transexualismo. XXIII Reunião Anual da S.B.P.C., Paraná. Resumos, p. 115, 1971.

[44] 44. SALDANHA, P. H. & OLAZÁBAL, L. C. Genética e transexualismo. An. XIV Congr. Inter. Psicol. São Paulo, Resumo, p. 716, 1973.

[45] 45. SOCARIDES, C. W. A psychoanalitic study of the desire for sexual transformation ("transsexualism"): the plaster-of-Paris man. Inter. J. Psichosanl. 51:341, 1970.

[46] 46. STOLLER, R. J. Etiological factors in male transsexualism. Trans. N.Y. Acad. Sci. 29:431, 1967.

[47] 47. STOLLER, R. J. A further contribution to the study of gender identity. Inter. J. Psycho-Anal. 49:364, 1968.

[48] 48. WALLINDER, J. Transvestism, definition and evidence in favor of occasional derivation from cerebral dysfuntion. Inter. Neuropsychiat. 1:567, 1965.

[49] 49. WEITZMAN, E. L.; SHAMOIAN, C. A. & GOLOSOW, N. Identity difuslon and transsexual resolution. J. Nerv. Ment. Dis. 151:295, 1970.

[50] 50. WOLLMAN, L. Transsexualism: gynecologic aspects. Trans. N.Y. Acad. Sci. 29:463, 1967.