Asperger Syndrome, obsessive-compulsive disorder, and major depression in a patient with 45,X/46,XY mosaicism.

BACKGROUND

Although previous reports have described the association of autism, mental retardation, and schizophrenia with a missing Y chromosome, we are not aware of any case showing an association between this particular chromosomal abnormality and Asperger syndrome.

METHOD

We report the case of a male patient with a combination of Asperger syndrome, obsessive-compulsive disorder and 45,X/46,XY mosaicism. During the follow-up, this individual has also developed a severe episode of major depression, which was successfully treated with electroconvulsive therapy.

RESULTS

To the best of our knowledge, this is the first case in which a 45,X/46,XY mosaicism was described in association with Asperger syndrome, either alone or associated with other psychiatric disorders. Diagnostic and therapeutic aspects of this unique case are presented and discussed.

CONCLUSIONS

Our findings suggest that a missing Y chromosome may play an etiological role in some cases of Asperger syndrome.