Etiology
In the etiology of transexualism, as of other gender identity/role disorders, there is no demonstrable evidence of a hereditary factor, either in the family tree or as a spontaneous mutation. Transexualism has been recorded in some males with the 47, XXY chromosomal condition (Klinefelter’s syndrome), but most XXY individuals are not transexuals.
By inference from experimental animal studies, prenatal hormonal history may be etiologically significant. There is as yet no directly demonstrable human evidence to implicate a prenatal hormonal effect, chiefly because there are no retrospectively retrievable records of the prenatal hormonal history of transexuals. If hormones do play an etiologic role, however, then it is almost certainly in the prenatal period, and not at puberty or later. It is very rare to find a hormonal abnormality in an untreated postpubertal transexual.
In cases of hermaphroditism with a known prenatal history of hormonal abnormality, transexualism is not a subsequent sequel, except in the presence of ambiguity of gender assignment and rearing postnatally. Such cases indicate that prenatal hormonal history alone is not capable of determining the subsequent differentiation of gender identity /role. Postnatal history is proportionally more important. It has not yet proved possible to find a formula from which to predict transexualism on the basis of early childhood history, even among children who overtly wish to change sex. These same children have proved to develop as adolescent homosexuals or bisexuals rather than transexuals. In some families, it is possible to recognize a covert collusion of the parents and the child with respect to the child’s repudiation of his or her anatomic sex.
Diagnosis
The diagnosis of transexualism is based initially on the presenting complaint, namely the need for sex reassignment. It is necessary for legal and ethical reasons to check the anamnesis against other informants and social records. It is in the nature of transexualism to give a revised or edited biography. The best diagnostic test is the “real-life test” for a minimum of two years, during which time social, emotional, and economic rehabilitation in the new sex role is achieved.
Usually the physical examination yields nothing contributing to the diagnosis, but it should not be omitted. In a few cases, other unrelated pathology may limit the therapy for sex reassignment. Very rarely, the EEG may show a temporal lobe epileptic focus requiring neurosurgery after which the sex problem may remit. Hormonal evaluations, useful for the research information they provide, are typically noncontributory.
The check list for the differential diagnosis includes:
Temporal lobe epilepsy with transexualism or transvestism as a related symptom.
Schizophrenic disorder with transexual gender identity confusion as a symptom.
Transvestism with a strong element of transexualism that emerges, especially in middle life.
Female impersonation in an extremely effeminate male homosexual (drag queen) or male impersonation in a virilistic lesbian.
The above diagnoses do not, in and of themselves alone, rule out the possibility of rehabilitation by means of sex reassignment, but they do require caution and unhurried decisions. Much the same applies also to transexuals who are pathologically depressed, for sex reassignment alone does not reverse depression.
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