Abstract
It is currently unclear whether an adolescent with 47,XXY Klinefelter syndrome will be better off having testicular sperm extraction (TESE) performed in an effort to ‘preserve fertility’ for the future or, alternatively, should be advised to simply wait until adulthood when he and his partner are ready to begin a family. This report will provide data suggesting that there is no obvious ‘preservation’ benefit and that recommending TESE to the 47,XXY boy and his parents may not be as helpful as it might appear and may be overly aggressive.
Highlights
Klinefelter syndrome (KS) (47,XXY) is the most common chromosomal disorder in men, affecting one in 600 newborn males, and is etiologic in up to 11% of non-obstructive azoospermic (NOA) males[1]
Based upon the knowledge that not all adult KS males will have spermatozoa harvested upon testicular sperm extraction (TESE), several clinical investigators have pursued a course of action to determine if TESE should be offered and applied to the 47,XXY adolescent in order to “preserve fertility potential”[8,9]
Since 50 out of every 100 KS boys have sperm recovered in their testis tissue and 50 out of every 100 KS adults have sperm recovered from their testis tissue, and if a decline in sperm production occurred during this time frame to zero values of, for argument’s sake, 10%, 10% of maturing KS males would have to begin to produce sperm to keep the two groups equivalent, as far as sperm retrieval rate (SRR) rates go. Is it likely that 10 males have a precipitous and total decline in sperm production as they advance from adolescence into adulthood and, to keep the rates of what we find upon TESE balanced, 10 males begin to suddenly produce sperm as they advance from adolescence into adulthood? Or is it more likely that those who have seminiferous tubules populated by 46,XY spermatogonia capable of undergoing the full and complete sequence of spermatogenesis maintain those same tubules throughout the years of adolescence and on into adulthood? It may be the exact same individuals who have spermatozoa found in adolescence that are those found in adulthood
Summary
Klinefelter syndrome (KS) (47,XXY) is the most common chromosomal disorder in men, affecting one in 600 newborn males, and is etiologic in up to 11% of non-obstructive azoospermic (NOA) males[1]. This notion arises from very limited data suggesting that sperm production, as determined by results of TESE (namely SRR), declines after a certain age (35 or so) and as such it might be best to harvest tissue as soon as the diagnosis is made, whatever the age[43] These conclusions have been made based on a limited data set from Okada et al.[43] (25 patients greater than age 35 with a 23% SRR, far different from the Cornell group as detailed below), this is by no means certain. Where would the benefit be? Harm could certainly come to the adolescent and his parents when no sperm are retrieved—a potential heavy burden to carry in the difficult teenage years
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