Klinefelters Syndrome And Infertility

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Previously, donated sperm or adoption were the only options for men with KS to have children, however, dramatic advances in infertility treatment for individuals with KS have recently occurred. Several reports of births resulting from intracytoplasmic sperm injection (ICSI) of sperm obtained from testicular biopsy specimens in patients with KS have been published (56-58). Although most patients with nonmosaic KS do not have sperm on testicular biopsy (59,60), this technique offers a chance at fertility for those who do. Unfortunately, analysis of spermatozoa obtained by testicular biopsy in individuals with KS has revealed an increased prevalence of sperm with an additional X chro mosome (61), higher rates of aneuploidy (62), and trisomy 21 (63), implying an increased risk of genetic abnormalities in offspring of individuals with KS born using ICSI. Additional selection of sperm from testicular biopsy specimens in individuals with KS may be required to prevent the transmission of genetic abnormalities.

Physicians and patients interested in obtaining further information about Klinefelter's syndrome, including support-group resources, can contact: Klinefelter's Syndrome and Associates, P.O. Box 119, Roseville, CA 95678-0119; e-mail: [email protected].

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