Klinefelter’s syndrome

Klinefelter’s syndrome, 47, XXY or XXY syndrome is a condition in which males have an extra X sex chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome.[1] Klinefelter’s syndrome is the most common sex chromosome disorder[2] and the second most common condition caused by the presence of extra chromosomes. The condition exists in roughly 1 out of every 1,000 males. One in every 500 males has an extra X chromosome but does not have the syndrome.[3]

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The principal effects are development of small testicles and reduced fertility. A variety of other physical and behavioral differences and problems are common, though severity varies and many boys and men with the condition have few detectable symptoms. The syndrome was named after Dr. Harry Klinefelter, an endocrinologist at Massachusetts General Hospital in Boston, Massachusetts, who first described it in 1942.[4] Because of the extra chromosome, individuals with the condition are usually referred to as “XXY Males”, or “47, XXY Males”.

Signs and symptoms

Affected males are almost always effectively infertile, although advanced reproductive assistance is sometimes possible.[6] Some degree of language learning impairment may be present,[7] and neuropsychological testing often reveals deficits in executive functions.[8] In adults, possible characteristics vary widely and include little to no signs of affectedness, a lanky, youthful build and facial appearance, or a rounded body type with some degree of gynecomastia (increased breast tissue).[9] Gynecomastia is present to some extent in about a third of affected individuals, a slightly higher percentage than in the XY population, but only about 10% of XXY males’ gynecomastia is noticeable enough to require surgery.[10]

For more information visit:

http://en.wikipedia.org/wiki/Klinefelter’s_syndrome