Klinefelter syndrome: fertility considerations and gaps in knowledge

We would like to thank Drs. Rogol and Skakkebaek for their timely and insightful commentary about medical and ethical issues with regard to sperm retrieval in adolescents with Klinefelter syndrome (KS) (1); the authors present key points discussed at the recent International Workshop on Klinefelter syndrome, in addition to summarizing our pilot clinical trial investigating sperm retrieval rates in adolescents and young adults with KS published in The Journal of Pediatrics (2,3). As was acknowledged in the original manuscript, Drs. Rogol and Skakkebaek emphasize potential selection bias in the study, as the sample size was small and many of the eligible subjects declined to participate due to “lack of psychological readiness to focus on fertility”; additionally, none of the patients had been treated with testosterone, indicating a “milder” end of the spectrum (1,2). The potential impact of prior testosterone therapy and other agents on sperm retrieval in this population was identified as a necessary issue for investigation (1,4).