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Klinefelter syndrome

Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly. Subjects affected by the condition are almost always phenotypically male, with common complications such as infertility and small, poorly functioning testicles. Although this is one of the most common chromosomal disorders, symptoms are often noticed only at puberty. The birth prevalence of KS in the State of Victoria, Australia, was estimated to be 223 per 100,000 males. It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s, along with his colleagues at Massachusetts General Hospital.

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