A Prospective Study on Klinefelter Syndrome: A Basket of Multiple Systemic Disorders in a Tertiary Care Hospital
DOI:
https://doi.org/10.21276/dap07c88Keywords:
Klinefelter Syndrome, Infertility, Chromosomal disorderAbstract
Background: When one or more extra X chromosome is added to a normal male karyotype (46-XY), then a new aneuploidy appears called Klinefelter Syndrome (KS). Every day approximately more than 50 new such cases are added in the male population of India. Traditionally they are lean, thin, tall, azoospermic, hypogonadic, infertile males with low social and educational profile. As the age advances level of testosterone decreases and many new symptoms of multiple systemic disorders appear in these cases. Methods: A well designed questionnaire of infertile males attending the above- mentioned OPD’s was filled with history, clinical examination and semen analysis (twice as per the WHO criteria). Results: In our series of 500 azoospermic males, we encountered 56 classical KS cases (11.2 %) of 47-XXY karyotype, who were hypergonadotrophic hypogonadic and diagnosed with multiple diseases when evaluated in detail. Conclusions: Hence, every KS must receive androgen replacement therapy, which should begin at puberty and continue for lifelong that helps in preventing the development of high comorbidity rate and premature deaths because these are very high in such condition as compared to normal male population.
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References
Witowski Ja, Parish Lc. Acne in Kleinfelter Syndrome-XXY moaicism. Australia J Dermatol 1971:12: 30-4
Shanmugam Vktsagarix, Attingence report and review of the literature. Int. wound J 2012; 9: 104-7.
Linden mg, Bender Bg, Robinson a: sex chromosome tetrasomy & pentasomy. pediatrics.1995,96-672-682.
Visootask J, Aylstock M, graham JM. Klinefelter syndrome& its varients:an update &review for the primary pediatrician. Clin pediat. 2001,40:639-651.
Nielsen J, Wholert M: Sex chromosome abnormalities found among 34,910 new born children: result from a 13 yr incidence study in Arthur, demark. Children & young adult with sex chromosome aneuploidy. Birth defects: original article series 26. Edited by evans ja. New York: wiley–liss, for the maech of dimes birth defects foundation: 1991:209-223.
Okada H, fujioka H, Tatsumi N, kanzaki M, Okuda Y, Fujisawa M, Hazama M, Matsumoto O, Gohji K, Arakawa S, Kamidono S: klinefelter’s syndrome in the male infertility clinic. Hum reprod. 1999, 14: 946-952. k10.1093/humrep/14.4.946.
Rovet J, Netley J, Keenan M, Stewart D. Intelligence and achievement in children with extra x aneuploidy: a longitudinal perspective. Am g med jenet1995, 60: 356-36310.1002/ajmg.1320600503.
Symth CM, Bremner WJ: Klinfelter syndrome. Arch inter med. 1998,158:1309-1314.10.100/1001/archinite.158.12.1309.
Walzer S, Wolff PH, Bowen D, Silbert AR, Bashir AS, Gerald PS, Richmond JB, A method for longitudinal study of behavioural development in infants and children: the early development of XXY children. J Child psycho Psychiat. 1978, 19: 213-229.
Robinson A, Bender B, Linden MG: Summary of clinical and young Adults with chromosome anomalies. Children and Adults with sex chromosome aneuploidy. Birth defects series volume 26. Edited by : Evans JA, Hamerton JL. New York : Wiley – Liss , for the march of dimes birth defect foundation; 1991:225-228
Zeger MP, Zinn AR, Lahlou, Ramos P, Kowal K, Samango-Sprouse C, et al. Effect of ascertainment and genetic features on phenotype of klinefelter’s syndrome. J Pediatr 2008;152:716-22.
Kocar IH, Yesilova Z, Ozata M, Tarun M, Sengul A, Ozdemir I: The effect of testosterone replacement treatment on immunological features of patients with Klinefelter’s Syndrome. Clin. Exp. Immunol. 2000, 121, 448- 452. 10.1046/j.1365-2249.2000.01329.x.
13. Campbell WA, Price WH, Venous thromboembolic disease of klinefelter’s syndrome. Clin Genet. 1981, 19:275-280.
14 Nielsen J, Pelsen B, Sorensen K: Follow up of 30 Klinefelter males treated with testorterone. Clin Genet. 1988, 33: 262-269.
15. Wang C, Baker HW, Burger HG, De Kretser DM, Hudson B. Hormonal studies in klinefelter’s syndrome. Clin. Endocrinol (Oxf) 1975;4:399-411.
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