Testicular biopsy and cryopreservation for fertility preservation of pre pubertal boys with Klinefelter syndrome A pro con debate

Although fertility preservation techniques in boys and adolescents with Klinefelter syndrome are an emerging field, many technical and ethical issues remain, so these techniques should continue to be viewed as experimental.

Inge Gies, M.D., Robert Oates, M.D., Jean de Schepper, M.D., Ph.D., Herman Tournaye, M.D., Ph.D.

Volume 105, Issue 2, Pages 249-255


In about one-half of adult Klinefelter syndrome (KS) patients, spermatozoa can be retrieved by means of testicular biopsy (TESE). Given the expected increase in the number of diagnosed KS patients owing to the use of noninvasive prenatal testing, the probable questions of young KS patients and their parents regarding future fertility, and the fact that widespread apoptosis of spermatogonia occurs at onset of puberty, an attempt to increase the retrieval rates at TESE above those found in adult KS men by undertaking preservation techniques peripubertally has been initiated. To date, however, only a limited number of KS adolescents have been examined, demonstrating no increases in the chances of finding sperm. Furthermore, spermatogonial stem cell and testicular tissue freezing techniques, as well as in vitro maturation strategies, require further validation. Given these controversies, banking testicular tissue from prepubertal KS boys should be performed only in a research framework.

  • msamplaski

    While parents want to preserve the fertility of their children with KS, the risks of a near-total orchiectomy (for most of these patients) and an unnecessary anesthetic in children who do not completely understand their condition or its implications, are should not be forgotten. The truth is, at this point, we do not know the natural progression of spermatogenesis and its possible decline in men with KS. In addition, we may be harming an already delicate testicular environment when we operate on these young men. We need to remind parents of this- we truly do not know the full risks of these procedures, nor the benefits.

  • This article attempts to address the difficult task of what to do with KS boys/adolescents fertility as they are being diagnosed earlier on with genetic testing. The ethics of performing an invasive procedure to procure testicular tissue or spermatogonial stem cells before the testicles hyalinize and scar due to the disease process to preserve fertility for the future. Now, 50% of these men have sperm found on TESE or mTESE when they desire fertility in the future. This would mean that if pre-pubertal tissue harvesting was performed, we could potentially overtreat 50% of the men. In addition, we currently don’t have the technology to mature extracted pre-pubertal tissue and utilize it for fertility. The ethical considerations that this article brings up are very real and cannot be ignored. Until the technology catches up with what we are attempting to address, we will continue to consider this pre-pubertal approach as experimental.

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