Attending the 2009 national meeting for the American Urological Association, it is exciting to see that new data from Cornell by Ramasamy et al. (Abstract 2010) confirms the growing body of evidence that finding sperm in azoospermic men with Klinefelter’s Syndrome (KS) is very possible. Looking at 69 non-mosaic KS men who underwent 91 attempts of Microdissection of the testicles (MicroTESE), they were pleased to find an overall sperm retrieval rate in 66% of men. For the subset of men who had a low testosterone level, they saw a 72% sperm retrieval rate if their testosterone levels rose by more than 100 ng/dL after medical therapy (use of medications like HCG, clomiphene citrate or aromatase inhibitors). For men with normal baseline testosterone levels, sperm were found in 86%.
Bottomline: It is definitely possible to find sperm in KS men to help them have their own biological children via IVF. Find a male fertility fellowship-trained specialist near you to talk to you more about a Microdissection of the testicles and to see whether medical treatments may benefit you.
We are also beginning to better understand why KS leads to the production of no sperm. The testicles of men with Klinefelter’s do not function properly and it results in too little testosterone and sperm. New research by Vaucher et al. at Cornell (Data was also presented at the same American Urological Association meeting in 2009) sheds light as to why the testosterone levels in most of these men will decline over time. Their research suggests that the problem is not that the testicles don’t make enough testosterone, but that the testosterone is being excessively broken down and converted into estrogen. This causes a low sperm count since too much estrogen and too little testosterone actually inhibits sperm production. They found that KS men seem to make over 4 times too much CYP19, a fancy name for a protein that is responsible for converting testosterone to estrogen (an aromatose).
Bottomline: This research group led by Darius Paduch MD is continuing to lead the way on shedding light on “why†Klinefelter’s Syndrome occurs. While our understanding is not advancing in leaps and bounds, we will slowly but surely get there.