A rare chromosomal genetic syndrome where the person has XXY chromosomes instead of XY or XX. The person is usually male because of the Y chromosome, but has lower levels of testosterone and may have some female-like features (because there are two X chromosomes). Sterility is a possible complication. The rarer subtype XXXY syndrome may lead to retardation. ...more »
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Source: HealthDay News
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A common sex chromosomal anomaly in males characterized mainly by small testes with tubular hyalinization, azospermia with infertility, slight breast enlargement, elevated urinary gonadotropins, and decreased urinary 17-ketosteroids. Dull mentality has been noted. The affected individuals appear normal after birth, except for small testes. Most characteristic features become evident at adolescence as hypogonadism, gynecomastia, incomplete virilization with variable eunuchoidism, and dull mentality. Without testosterone therapy, most adult patients may become obese. Occasional abnormalities may include cryptorchidism, hypospadias, ataxia, scoliosis during adolescence, and diabetes mellitus in adulthood. - (Source - Diseases Database)
Syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation; a genetic defect in which an extra X chromosome (XXY) is present in the male - (Source - WordNet 2.1)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Klinefelter syndrome as a "rare disease".
Source - Orphanet
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