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An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations.

Katulanda P, Rajapakse JR, Kariyawasam J, Jayasekara R, Dissanayake VH - Indian J Endocrinol Metab (2012)

Bottom Line: This patient presented with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder, and renal malformatons.The karyotype confirmed the diagnosis of 48,XXYY syndrome.This is the first reported case of 48,XXYY syndrome from Sri Lanka.

View Article: PubMed Central - PubMed

Affiliation: Department of Clinical Medicine, University of Colombo, Sri Lanka.

ABSTRACT
48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders. At one time this condition was considered a variant of Klinefelter syndrome. In clinically suspected cases, 48,XXYY syndrome can be diagnosed by chromosome culture and karyotyping. This patient presented with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder, and renal malformatons. Klinefelter syndrome was clinically suspected. The karyotype confirmed the diagnosis of 48,XXYY syndrome. This is the first reported case of 48,XXYY syndrome from Sri Lanka.

No MeSH data available.


Related in: MedlinePlus

Karyogram showing the 48,XXYY karyotype
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Figure 1: Karyogram showing the 48,XXYY karyotype

Mentions: The karyotype performed on peripheral lymphocytes showed the presence of the 48,XXYY chromosome compliment in all the cells analyzed [Figure 1]. He was commenced on depot testosterone therapy.


An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations.

Katulanda P, Rajapakse JR, Kariyawasam J, Jayasekara R, Dissanayake VH - Indian J Endocrinol Metab (2012)

Karyogram showing the 48,XXYY karyotype
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3475914&req=5

Figure 1: Karyogram showing the 48,XXYY karyotype
Mentions: The karyotype performed on peripheral lymphocytes showed the presence of the 48,XXYY chromosome compliment in all the cells analyzed [Figure 1]. He was commenced on depot testosterone therapy.

Bottom Line: This patient presented with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder, and renal malformatons.The karyotype confirmed the diagnosis of 48,XXYY syndrome.This is the first reported case of 48,XXYY syndrome from Sri Lanka.

View Article: PubMed Central - PubMed

Affiliation: Department of Clinical Medicine, University of Colombo, Sri Lanka.

ABSTRACT
48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders. At one time this condition was considered a variant of Klinefelter syndrome. In clinically suspected cases, 48,XXYY syndrome can be diagnosed by chromosome culture and karyotyping. This patient presented with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder, and renal malformatons. Klinefelter syndrome was clinically suspected. The karyotype confirmed the diagnosis of 48,XXYY syndrome. This is the first reported case of 48,XXYY syndrome from Sri Lanka.

No MeSH data available.


Related in: MedlinePlus