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- Males have one X-chromosome and one Y-chromosome. Females have two X-chromosomes. In Klinefelter's syndrome, a male gets an extra X-chromosome and therefore has two X-chromosomes and one Y-chromosome. There are some individuals who have a mosaic genetic pattern -- part XXY and part XY -- that determines to what extent the individual is affected.
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- Few symptoms and signs in childhood
- Long arms and legs
- Tall, slim, and underweight
- Enlarged male breasts
- Small testicles
- Mental retardation
- Psychosocial, learning, or school adjustment problems
- Anxiety, immaturity, excessive shyness, or aggressiveness, such as fire-setting behavior
- Delayed pubertal development
- Sparse facial hair
- Infertility
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- Genetic testing
- Slightly low level of testosterone
- Elevated gonadotropins after mid-puberty
- Testicular biopsy -- abnormal findings
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- Testosterone is often supplemented (though this will not reverse infertility).
- Cosmetic surgical removal of extra breast tissue may be considered.
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- There is increased risk of breast cancer (though still much less than females), lung disease, Leukemia, and varicose veins.
- Mild increase in the risk of mental retardation and diabetes
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