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Letter to the Editor   |    
48,XXYY Syndrome, Mood Disorder, and Aggression
SERMSAK LOLAK, M.D.; ELISA DANNEMILLER, B.S.; FRANCIS ANDRES, M.D.
Am J Psychiatry 2005;162:1384-1384. doi:10.1176/appi.ajp.162.7.1384

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.

Muldal S, Ockey CH: The "double male": a new chromosome constitution in Klinefelter’s syndrome. Lancet  1960; 2:492–493
 
Demirhan O: Clinical findings and phenotype in a toddler with 48,XXYY syndrome (letter). Am J Med Genet A  2003; 119:393–394
 
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
[PubMed]
[CrossRef]
 
Parker CE, Mavalwala J, Melnyk J, Fish CH: The 48,XXYY syndrome. Am J Med  1970; 48:777–781
[PubMed]
[CrossRef]
 
Maclean N, Mitchell JM: A survey of sex-chromosome abnormalities among 4,514 mental defectives. Lancet  1962; 1:293–296
[PubMed]
 
Sorensen K, Nielsen J, Jacobsen P, Rolle T: The 48,XXYY syndrome. Ment Defic Res  1978; 22:197–205
 
Zelante L, Piemontese MR, Francioli G, Clavano S: Two 48,XXYY patients: clinical, cytogenetic and molecular aspects. Ann Genet  2003; 46:479–481
[PubMed]
 
+

References

Muldal S, Ockey CH: The "double male": a new chromosome constitution in Klinefelter’s syndrome. Lancet  1960; 2:492–493
 
Demirhan O: Clinical findings and phenotype in a toddler with 48,XXYY syndrome (letter). Am J Med Genet A  2003; 119:393–394
 
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
[PubMed]
[CrossRef]
 
Parker CE, Mavalwala J, Melnyk J, Fish CH: The 48,XXYY syndrome. Am J Med  1970; 48:777–781
[PubMed]
[CrossRef]
 
Maclean N, Mitchell JM: A survey of sex-chromosome abnormalities among 4,514 mental defectives. Lancet  1962; 1:293–296
[PubMed]
 
Sorensen K, Nielsen J, Jacobsen P, Rolle T: The 48,XXYY syndrome. Ment Defic Res  1978; 22:197–205
 
Zelante L, Piemontese MR, Francioli G, Clavano S: Two 48,XXYY patients: clinical, cytogenetic and molecular aspects. Ann Genet  2003; 46:479–481
[PubMed]
 
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