by Philip Werthman, M.D.
Chromosomes. They're the thread-like structures found inside the cells of living organisms. The pigeon has 80 chromosomes. A pineapple has 50. But among the factors that make us uniquely human, is the presence of 46 chromosomes. As the cement in the foundation of our bodies, chromosomes contain all of our genes and DNA. The two sex chromosomes (X and Y) are responsible for determining whether someone becomes male (one X and one Y chromosome) or female (two X chromosomes). But sometimes during the course of reproduction, chromosomal problems can arise.
A result of abnormalities related to the sex chromosomes, Klinefelter Syndrome (KS) is a condition that occurs in roughly one out of every 600 newborn boys. Symptoms of the disorder range from distorted body proportions and abnormally large breasts to small testicles and sexual problems.
The most common and potentially damaging (without early treatment) of those sexual problems is male infertility. In fact, sometimes men aren't diagnosed with the condition until later adulthood, while seeking treatment for fertility concerns. As little as 15 years ago, there wasn't much we could do for a man who had experienced infertility as a result of Klinefelter Syndrome. He was thought to be completely sterile and sadly, was treated as such.
But today, the picture is much brighter and the reproductive outlook more hopeful for men suffering from the condition- with the most significant advances in treatment involving the area of fertility. With the advent and expert use of new and innovative technologies, many of the men diagnosed with Klinefelter Syndrome are able to biologically father healthy children. Here's how:
mTESE-Microsurgical Testicular Sperm Extraction: Expert male fertility specialists locate pockets of sperm within the testicles of men with Klinefelter Syndrome and extract them using special equipment. More than 50% of men with KS are producing small amounts of sperm within the testes.
Once the sperm has been extracted, it can be used with In-Vitro Fertilization (IVF) or frozen for future treatments when a man and his partner are ready to father a child. Because the number of viable sperm in a man with Klinefelter Syndrome may decrease drastically with age, there is some rationale for extracting the viable sperm and freezing it sooner rather than later. Some younger men with Klinefelter Syndrome may have a small amount of sperm present in the ejaculate. In fact, I recently treated an 18 year-old patient with a less severe form of the condition, who had more than one million live sperm upon an analysis of his semen. He decided to freeze those sperm for when he becomes ready to start his family.
When the desire to become a parent presents itself, men with Klinefelter Syndrome and their partners have the option of using either previously frozen sperm or sperm recently retrieved using mTESE, and undergoing a procedure to inject the sperm using In Vitro Fertilization techniques.
ICSI-Intracytoplasmic Sperm Injection & IVF-In Vitro Fertilization: ICSI is an IVF procedure during which a single sperm that has been extracted from a man is injected directly into the egg of his female partner using a microscope and other special equipment. In more than half of the cases where mTESE techniques are used in conjunction with ICSI/IVF, the result is conception of healthy babies.
Klinefelter Syndrome is a condition that has seen miraculous advances on the fertility treatment front over the span of just 15 years. Men with the condition have gone from being diagnosed as completely sterile to a prognosis of likely fertility because of modern technology. Hopefully, the treatment of the other medical and associated conditions of the disorder will also continue to improve as have the fertility related issues, so that men with this disorder can live the most complete and healthy lives possible. Important to making this a reality for boys and men with Klinefelter Syndrome are early diagnosis, patient education, and early/proper medical intervention. If you or someone you is struggling with the effects of Klinefelter Syndrome on fertility, please contact us to learn more about the latest in treatment options.
FERTILITY ALERT TM is a service of the Center for Male Reproductive Medicine and Vasectomy Reversal brought to you by Dr. Philip Werthman. It is an educational update for reproductive health professional and patients based on the latest published research and opinion of leading fertility care providers and scientists.