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

Psychopathology. May-Jun 2004;37(3):105-9. doi: 10.1159/000078608. Epub 2004 May 18.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asperger Syndrome / complications
  • Asperger Syndrome / genetics*
  • Chromosomes, Human, Y*
  • Comorbidity
  • Depressive Disorder / complications
  • Depressive Disorder / genetics*
  • Humans
  • Karyotyping
  • Male
  • Mosaicism*
  • Obsessive-Compulsive Disorder / complications
  • Obsessive-Compulsive Disorder / genetics*
  • Sex Chromosome Aberrations*