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Once thought to be a chromosomal aberration associated with absolute sterility, Klinefelter syndrome may now be potentially treatable by testicular sperm retrieval coupled with intracytoplasmic sperm injection. With these therapeutic advances, azoospermic 47,XXY men now may have an opportunity for biological paternity. However, our knowledge of the basic mechanisms underlying germ cell loss and Leydig cell compromise is lagging, and is just now beginning to evolve and provide answers to some of the field's most vexing questions: how to maximize and preserve fertility in Klinefelter males many years or even decades before they wish to actively pursue fatherhood. This article reviews the development of the androgenic and spermatogenic compartments of the Klinefelter testis through puberty, and recommends that it is only with a clear understanding of the basic facts that a rational, considered approach to fertility optimization and preservation can be determined., (Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

Objective: To describe a case involving the cryopreservation of testis tissue retrieved from a 15-year-old male teenager with Klinefelter's syndrome., Design: Case report., Setting: An academic medical center., Patient(s): A 15-year-old boy with Klinefelter's syndrome., Intervention(s): Microsurgical testis sperm extraction with cryopreservation of harvested tissue., Main Outcome Measure(s): Spermatozoa within testis tissue., Result(s): Successful extraction and cryopreservation of three vials of sperm-containing testis tissue. No effect on subsequent testosterone levels., Conclusion(s): Testis tissue extraction in the adequately virilized but azoospermic young male with 47, XXY Klinefelter's syndrome may be a strategy to preserve future biological paternity.