An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations
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 Klinef...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2012-01-01
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| Series: | Indian Journal of Endocrinology and Metabolism |
| Subjects: | |
| Online Access: | http://www.ijem.in/article.asp?issn=2230-8210;year=2012;volume=16;issue=5;spage=824;epage=826;aulast=Katulanda |
| _version_ | 1811342311269859328 |
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| author | Prasad Katulanda J. Rasika D. K. Rajapakse Jayani Kariyawasam Rohan Jayasekara Vajira H. W. Dissanayake |
| author_facet | Prasad Katulanda J. Rasika D. K. Rajapakse Jayani Kariyawasam Rohan Jayasekara Vajira H. W. Dissanayake |
| author_sort | Prasad Katulanda |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T19:09:19Z |
| format | Article |
| id | doaj.art-82b8c612b3624e2e9b06eb1d88f96905 |
| institution | Directory Open Access Journal |
| issn | 2230-8210 2230-9500 |
| language | English |
| last_indexed | 2024-04-13T19:09:19Z |
| publishDate | 2012-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Endocrinology and Metabolism |
| spelling | doaj.art-82b8c612b3624e2e9b06eb1d88f969052022-12-22T02:33:53ZengWolters Kluwer Medknow PublicationsIndian Journal of Endocrinology and Metabolism2230-82102230-95002012-01-0116582482610.4103/2230-8210.100642An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformationsPrasad KatulandaJ. Rasika D. K. RajapakseJayani KariyawasamRohan JayasekaraVajira H. W. Dissanayake48,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.http://www.ijem.in/article.asp?issn=2230-8210;year=2012;volume=16;issue=5;spage=824;epage=826;aulast=Katulanda48XXYY syndromehypergonadotrophic hypogonadismsex chromosome aneuploidy |
| spellingShingle | Prasad Katulanda J. Rasika D. K. Rajapakse Jayani Kariyawasam Rohan Jayasekara Vajira H. W. Dissanayake An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations Indian Journal of Endocrinology and Metabolism 48 XXYY syndrome hypergonadotrophic hypogonadism sex chromosome aneuploidy |
| title | An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations |
| title_full | An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations |
| title_fullStr | An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations |
| title_full_unstemmed | An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations |
| title_short | An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations |
| title_sort | adolescent with 48 xxyy syndrome with hypergonadotrophic hypogonadism attention deficit hyperactive disorder and renal malformations |
| topic | 48 XXYY syndrome hypergonadotrophic hypogonadism sex chromosome aneuploidy |
| url | http://www.ijem.in/article.asp?issn=2230-8210;year=2012;volume=16;issue=5;spage=824;epage=826;aulast=Katulanda |
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