Skip to main content
Full access
Letter to the Editor
Published Online: 1 July 2005

48,XXYY Syndrome, Mood Disorder, and Aggression

Publication: American Journal of Psychiatry
To the Editor: A man with 48,XXYY syndrome was evaluated for suicidal and aggressive behavior. This unusual syndrome alerted our service to the associated psychopathology in this genetic disorder.
Mr. A, a 24-year-old man with a documented chromosomal abnormality of 48,XXYY evaluated by a standard cytogenetics technique, was admitted to the hospital for suicidal ideation and aggressive behavior toward his brother, whom he pushed down the stairs. He endorsed symptoms suggestive of a mixed bipolar episode before admission. He appeared to have borderline intelligence, with a documented IQ of 70–80, and was able to finish high school. There was no family history of psychiatric or genetic disorders. His physical appearance was notable for a tall stature, gynecomastia, and truncal obesity. His mental status examination was significant for irritability and a labile, intense affect. His cognition was intact. He had minimal insight into his illness.
Upon admission, Mr. A was given olanzapine and was later switched to oxcarbazepine and citalopram. Provisional diagnoses of bipolar disorder, not otherwise specified, and cluster B personality traits were made. Mr. A was initially uncooperative and frequently became agitated. Toward the end of admission, Mr. A seemed to respond to oxcarbazepine. His mood and behavior improved. He was discharged after 10 days of hospitalization with oxcarbazepine, 1200 mg/day, and citalopram, 40 mg/day.
48,XXYY syndrome was initially considered a variant of Klinefelter’s syndrome (1). Nowadays, it is accepted as a distinct clinical and genetic entity (2, 3). Individuals with this syndrome are more aggressive, more intellectually handicapped, and taller than people with Klinefelter’s syndrome (4). Children and adolescents with 48,XXYY syndrome often come to psychiatrists for behavioral problems, sometimes even before the chromosomal diagnosis is made. The incidences among newborn and institutionalized mentally retarded patients are 1/50,000 and 0.08%–0.33%, respectively (5, 6). Behavioral and intellectual disturbances in these patients are likely related to sex-chromosomal abnormalities (3). Clinical signs of 48,XXYY are generally nonspecific. Some of the common features include tall stature, gynecomastia, truncal obesity, skin ulcers, and a craniofacial dysmorphism described as a “pugilistic” facial appearance (7).
To our knowledge, there are no reports of using psychotropics specifically to treat behavioral problems in this patient population.

References

1.
Muldal S, Ockey CH: The “double male”: a new chromosome constitution in Klinefelter’s syndrome. Lancet 1960; 2:492–493
2.
Demirhan O: Clinical findings and phenotype in a toddler with 48,XXYY syndrome (letter). Am J Med Genet A 2003; 119:393–394
3.
Cammarata M, Di Simone P, Graziano L, Giuffre M, Corsello G, Garofalo G: Rare sex chromosome aneuploidies in humans: report of six patients with 48,XXYY, 49,XXXXY, and 48,XXXX karyotypes. Am J Med Genet 1999; 85:86–87
4.
Parker CE, Mavalwala J, Melnyk J, Fish CH: The 48,XXYY syndrome. Am J Med 1970; 48:777–781
5.
Maclean N, Mitchell JM: A survey of sex-chromosome abnormalities among 4,514 mental defectives. Lancet 1962; 1:293–296
6.
Sorensen K, Nielsen J, Jacobsen P, Rolle T: The 48,XXYY syndrome. Ment Defic Res 1978; 22:197–205
7.
Zelante L, Piemontese MR, Francioli G, Clavano S: Two 48,XXYY patients: clinical, cytogenetic and molecular aspects. Ann Genet 2003; 46:479–481

Information & Authors

Information

Published In

Go to American Journal of Psychiatry
Go to American Journal of Psychiatry
American Journal of Psychiatry
Pages: 1384
PubMed: 15994727

History

Published online: 1 July 2005
Published in print: July 2005

Authors

Affiliations

ELISA DANNEMILLER, B.S.
FRANCIS ANDRES, M.D.
Falls Church, Va.

Metrics & Citations

Metrics

Citations

Export Citations

If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Simply select your manager software from the list below and click Download.

For more information or tips please see 'Downloading to a citation manager' in the Help menu.

Format
Citation style
Style
Copy to clipboard

There are no citations for this item

View Options

View options

PDF/ePub

View PDF/ePub

Get Access

Login options

Already a subscriber? Access your subscription through your login credentials or your institution for full access to this article.

Personal login Institutional Login Open Athens login
Purchase Options

Purchase this article to access the full text.

PPV Articles - American Journal of Psychiatry

PPV Articles - American Journal of Psychiatry

Not a subscriber?

Subscribe Now / Learn More

PsychiatryOnline subscription options offer access to the DSM-5-TR® library, books, journals, CME, and patient resources. This all-in-one virtual library provides psychiatrists and mental health professionals with key resources for diagnosis, treatment, research, and professional development.

Need more help? PsychiatryOnline Customer Service may be reached by emailing [email protected] or by calling 800-368-5777 (in the U.S.) or 703-907-7322 (outside the U.S.).

Media

Figures

Other

Tables

Share

Share

Share article link

Share