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 More information: Klinefelter’s Syndrome
Klinefelter’s Syndrome is the most common chromosomal disorder in men. About one in 650 men have an extra X chromosome, so instead of having the normal 46XY chromosomes in their genes, there are 47XXY or similar variations.
Diagnosis of Klinefelter’s Syndrome usually happens around puberty with these boys being tall, having breast development (gynaecomastia) and very small testes. However, sometimes these symptoms may not be very obvious and the diagnosis is not made until the man seeks medical help for infertility or for a loss of sex drive. It is thought that most men with Klinefelter’s Syndrome are never diagnosed1.
Klinefelter’s Syndrome is the most common cause of male hypogonadism, a condition where men are unable to produce both sperm and enough of the male hormone testosterone for the body’s needs. Men with Klinefelter’s Syndrome will benefit from life-long testosterone treatment.
1 Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter Syndrome: A national registry study. J Clin Endocrinol Metob 2003; 88(2): 622-6
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