Abstract
Klinefelter syndrome (KS) was described by Klinefelter, Reifenstein, and Albright in 1942, who described 9 adult males with gynecomastia, small and firm testes, azoospermia, and increased serum FSH with functional Leydig cells. In 1959, using cytogenetics, Jacobs and Strong described the existence of an extra X chromosome in a male with Klinefelter syndrome The International Consensus Conference organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology in 2006 included KS in disorders of sexual development. Klinefelter syndrome is also characterized by a genetic dysfunction of the entire gonad that affects germ cells from early fetal life and Sertoli and Leydig cells from mid-puberty. Today we know much more. In this article, we have delved into the social, relational, and sexual quality of life of patients with KS, going beyond fertility studies.
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