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Klinefelter syndrome was first described in 1942 by Dr. Harry Klinefelter, an endocrinologist at Massachusetts General Hospital. He published a case study of nine adult men with a common set of symptoms involving hypogonadism. At the time, chromosomes had not yet been discovered.
What is the cause of the chromosome aberration in Klinefelter's syndrome? Certain chromosome aberrations appear more frequently in children of elderly mothers and, to a certain extent, also elderly fathers, but this is not the case of Klinefelter's syndrome, and today nothing definite is known about causes leading to an increase in the number of X-chromosomes as found in Klinefelter's syndrome.