Klinefelter Syndrome: An Argument for Early Aggressive Hormonal and Fertility Management

The impact of early hormone therapy on fertility outcomes in patients with Klinefelter syndrome is not well understood. Semen or testicular tissue cryopreservation should be considered in affected adolescents to maximize future fertility potential.

Akanksha Mehta, M.D. and Darius A Paduch, M.D., Ph.D.

Volume 98, Issue 2, Pages 274-283, August 2012

The authors investigate the impact of early hormone replacement therapy on sperm retrieval rates in patients with Klinefelter syndrome (KS). Their systematic review of the relevant literature showed that there are no randomized controlled trials evaluating the impact of hormone replacement therapy on sperm retrieval or reproductive outcomes in men with KS. On average, surgical sperm retrieval rates in men with KS are around 51%, with a range of 28-69%. Young patient age is the most consistent positive predictors of sperm retrieval. Lower retrieval rates have been reported in a small subset of KS adults who previously received exogenous testosterone, although the nature, duration, and reason for such therapy in these patients subset is unknown.
Early hormone therapy is recommended in KS patients, but its effect on fertility potential has not been definitively studied. Larger studies are needed to better answer this question. Cryopreservation of sperm-containing semen or testicular tissue from a significant proportion of affected adolescents is possible, even when containing very low numbers of spermatozoa, and should be considered in order to maximize future fertility potential.

  • Bob Oates

    comment posted by Bob Oates about this article is cross posted under the oates KS paper in the same issue- please see that discussion

  • eykko

    It is well known that spermatogenesis requires adequate intratesticular testosterone levels. Most KS patients have just enough testosterone to go through puberty. Most do not maintain their testosterone levels into their reproductive years to support adequate sperm production. It seems logical that early aggressive hormone replacement therapy in the form of central manipulators (anastrazole, clomiphene, HCG, etc.) rather than exogeneous testosterone could improve sperm retrieval on TESE or Micro-TESE. A randomized controlled trial will require the cooperation of multiple sites and many years to accrue the necessary numbers to power an adequate study.

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