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.


METHODS
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.
Fontenelle
Leonardo F
LF
Anxiety and Depression Research Program, Institute of Psychiatry of the Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. leofontenelle@hotmail.com
Mendlowicz
Mauro V
MV
Bezerra de Menezes
Gabriela
G
dos Santos Martins
Rosa Rita
RR
Versiani
Marcio
M
D000328:Adult; D020817:Asperger Syndrome / Q000150:complications / Q000235:genetics*; D041322:Chromosomes, Human, Y; D015897:Comorbidity; D003866:Depressive Disorder / Q000150:complications / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009771:Obsessive-Compulsive Disorder / Q000150:complications / Q000235:genetics*; D012729:Sex Chromosome Aberrations