Boys normally have an X and a Y chromosome. With Klinefelter syndrome, they have an extra X chromosome that is written as XXY. The condition is often first diagnosed when a man comes to the doctor because of infertility. It can also be diagnosed at puberty when a boy’s testicles are noted to be abnormal.
Atrium Health Wake Forest Baptist offers a complete range of intervention services for patients of all ages at increased risk of infertility. We have a multidisciplinary team to provide any individualized services needed.
Klinefelter Syndrome and Infertility
Men with Klinefelter syndrome have a high chance (70-90 percent) of being infertile (a reduced ability to father children) or sterile (unable to father children.) Other symptoms associated with Klinefelter syndrome include abnormal body proportions; abnormally large breasts; less than normal amount of pubic, armpit, and facial hair; attention deficient hyperactivity disorder; depression; learning disabilities; lung disease and varicose veins. Klinefelter syndrome can be diagnosed through genetic testing, semen analysis and blood tests to measure hormones.
Treatment with testosterone and/or a medicine to prevent excess estrogen production may be given to help normalize secondary sexual development and improve libido, strength, mood and thinking.
Until now, there were no treatments to preserve fertility in boys with Klinefelter syndrome. In most cases, sperm banking is not an option for them because they are too young to be sexually mature and produce sperm.
Wake Forest Baptist is one of the few centers in the world that focuses on preserving fertility in boys with Klinefelter syndrome. They are offered the opportunity to bank a small piece of testicular tissue. From the stored tissue, researchers can extract spermatogonial stem cells (SSCs), which are responsible for the continuous production of sperm throughout adult life. Physicians and scientists hope that when the boys reach adulthood, the cells can be transplanted back into their testicles through a simple injection and they will be able to produce sperm.
Fertility Preservation and Restoration
Wake Forest Baptist Medical Center, Department of Urology and Center for Reproductive Medicine have collaborated to offer puberty and fertility preservation management for variations of X and Y chromosome abnormalities (including Klinefelter 47 XXY and 48 XXYY). Clinical Services include medical evaluation and management of hypogonadism, testicular elastography ultrasound, electorejaculation (EEJ), and microscopic testicular sperm extraction (TESE). Experimental services include spermatogonial stem cell banking for fertility preservation. Children, adolescents and adults are offered a "single day" encounter to bring together team members to provide individualized services.