Abstract: Klinefelter syndrome is a common genetic disorder in which there is at least one extra X chromosome (XXY), giving them a total of 47 instead of the normal 46 chromosomes associated with phenotypically males. Sex chromosome numerical abnormalities are more frequently associated with male infertility. A patient attended to our Satara based hospital with loss of secondary sexual characteristics and male infertility. Physical examination revealed thin built,gynaecomastia, hypogonadismand absence of beard / pubic hairs. Semen analysis, karyotype and relevant biochemical analysis were performed to detect chromosomal abnormality as well as hormonal levelto confirm the.......
Key Word: Klinefeltersyndrome, Semen analysis, 47XXY
[1]. Hasle H, Mellemgaard A, Nielsen J, Hansen J. Cancer incidence in men with Klinefelter syndrome. Br. J. Cancer. 1995 Feb;71(2):416-20.
[2]. Aksglaede L, Juul A. Testicular function and fertility in men with Klinefelter syndrome: a review. Eur. J. Endocrinol. 2013 Apr;168(4):R67-76.
[3]. Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, Tartaglia N. Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. AdvPediatr. 2016 Aug;63(1):15-46.
[4]. Bonomi M, Rochira V, Pasquali D, Balercia G, Jannini EA, Ferlin A., KlinefelterItaliaN Group (KING). Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. J. Endocrinol. Invest. 2017 Feb;40(2):123-134.
[5]. Ross JL, Kushner H, Kowal K, Bardsley M, Davis S, Reiss AL, Tartaglia N, Roeltgen D. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. J. Pediatr. 2017 Jun;185:193-199.e4.