Klinefelter Syndrome

A genetic defect, probably, in the male newborn karyotype of 46, XY leads to the addition of an “X” chromosome, resulting in impairment of physical and intellectual abilities, which is termed as Klinefelter syndrome (KS). This is a disorder, caused by an alteration in the number of chromosomes, with the signs and symptoms expressed in adulthood; thus, early detection of the KS incidence is still challenging (Bourke et al. 2014). After the discovery and the publication of several reports, Klinefelter demonstrated nine cases of KS with characteristic features in 1942. The primary belief regarding the etiology of KS was that it occurred due to an endocrine-based, hormonal imbalance. In 1959, Jacobs et al. demonstrated that KS showed an extra copy of the “X” chromosome and confirmed it as a genetic disorder with the 47, XXY karyotype. The incidence is approximately 1 in 500 males (Klinefelter et al. 1942). It has been characterized by male hypogonadism with sterility. The prevalence would increase 5–20-fold higher in the mentally disabled than normal (Gooren and de Ronde 2006). In general, KS-affected patients are found to be taller than normal but show impotency. Nevertheless, specific indicators or signs are remarkably varied to the male infants or men. It seems to be a genetic condition that is highly gentle, and unable to detect in the early stage, before puberty, or adolescent stage. There is an inconsistent opinion that 75% of affected KS males are unaware of their condition.