One in 500 males in the population is born with a specific variation in their chromosome makeup. As the typical man has a karyotype (chromosome makeup) of 46, XY, men with Klinefelter’s Syndrome (KS) have an extra X chromosome, 47, XXY. Men with KS have no sperm in the semen, except for the rare exception who may have extremely low sperm counts. Just because these men do not have sperm in the semen does not mean they cannot father children. The majority of men with KS have small pockets of sperm production within the testicle. With advanced techniques and technology, many men with KS can be fathers. This requires a procedure known as a microdissection testicular sperm extraction (MicroTESE) which is performed by highly specialized and trained Reproductive Urologists. MicroTESE consists of surgically exploring the testicle with an operative microscope magnifying the tissue by 20 times, with the man under anesthesia. In nearly 70% of KS men, small foci of sperm production can be found within the testicle and retrieved in well trained hands. These sperm cells can be used in conjunction with in vitro fertilization (IVF) to help the couple conceive. It requires a specialized process called intractyoplasmic sperm injection (ICSI), or microscopically inserting one sperm into each retrieved egg to help them fertilize. The embryos are then monitored for several days in the IVF lab prior to being placed in the uterus.
Fellowship Trained Austin Fertility Specialist Dr. Parviz Kavoussi states, “this has been a very exciting advancement in reproductive medicine to be able to give these couples a chance to have children, when in the past we thought it would not be possible. Especially, when KS affects so many men. One in 500 in the American male population is an awful lot of guys.” More studies are showing a decrease in sperm production in the testicles of KS men the farther away they get from puberty so the trend in practice has been to perform the MicroTESE earlier after puberty to optimize the odds of sperm retrieval. The sperm cells can then be frozen until the man is ready to use them at the right time in the future. It is important that the KS man’s hormonal treatments are optimized prior to MicroTESE to give the best chance at a successful sperm retrieval. MicroTESE should only be performed by specialty fellowship trained Reproductive Urologists for acceptable retrieval rates.