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INTRODUCTION Humans have 23 pairs of chromosomes carrying the genetic material that determines every aspect of our existence. In general, in some cases of chromosomal abnormalities, the abnormality may relate to the number of chromosomes: for example, a person could have one or more extra (supernumerary) chromosomes or could be missing a chromosome. On the other hand, the number of chromosomes could be normal, but the chromosomal disturbance could be a structural one (for example, a part of a chromosome may be missing or moved to another chromosome) (McGehee et al, 1976). When it comes to the 23rd pair of human chromosomes that determines the sex of a person, similar chromosomal abnormalities can occur, which may lead to “primary amenorrhea” in women (that means girls never had a menstrual period) and infertility in men (McGehee et al, 1976). In this essay I will explore the most common sex chromosome-related syndrome, Klinefelter syndrome which causes male infertilty. The history of the syndrome will be outlined first. The main body of the essay will present the pathophysiology and genetics of the syndrome, whom it affects, the frequency of the syndrome, the physical characteristics of the sufferers, in addition to la