Klinefelter Syndrome and other X,Y Aneuploidy Conditions Program

The Mount Sinai Hospital offers comprehensive care for children and adolescents with conditions involving the X and Y chromosomes. The Klinefelter Syndrome and other X,Y Aneuploidy Conditions Program treats patients who have Klinefelter syndrome (also known as 47,XXY) and other conditions such as 47,XXX or 48,XXXY. Klinefelter syndrome, which affects only males, may cause problems with physical development—including puberty—and learning. It is one of the leading causes of infertility in men. Aneuploidy conditions occur when there is one or more extra or missing chromosome in a cell. Other rare conditions can also affect growth, development, and fertility.

Our expert specialists are trained to identify and treat these conditions, and to provide education and options for fertility preservation. Through our program, you child’s health care team will include multidisciplinary providers from Pediatric Endocrinology, Urology, Genetics, and Pediatric Development.  We work with patients from infancy to young adulthood, and provide family-centered, compassionate care.

Our team may also work with parents before a baby is born. Prenatal genetic testing can sometimes tell us if a fetus has issues with their chromosomes. We can then help parents learn about and understand the condition prior to birth.

Why Choose Us

Children and adolescents with chromosome-related conditions require expert care as they grow, from childhood into young adulthood. We provide comprehensive care, from treatment to screening and education, all in one convenient location. Our team of specialists address developmental needs for academic and social success, hormonal requirements for normal growth and puberty, and fertility preservation options including surgical and hormonal options. Here at Mount Sinai, we provide patients with the support they need to live a healthy and successful life.