What It Is
One of the most common fertility-threatening chromosomal abnormalities in men is Klinefelter’s syndrome. Instead of having the usual XY chromosome pattern that most males have, men with Klinefelter’s syndrome inherit an extra “X” (female) chromosome, so they have an XXY pattern.
Who Gets It
Klinefelter’s syndrome occurs in 1 in 500 men.
Symptoms for Klinefelter’s can vary, but often include breast enlargement and small testes.
How It's Diagnosed/Detected
As boys, between 25 percent and 85 percent of XXY males have some kind of language problem, such as learning to talk late, trouble using language to express thoughts and needs, problems reading, and trouble processing what they hear. As XXY males enter puberty, they often don't make as much testosterone as other boys. This can lead to a taller, less muscular body, less facial and body hair, and broader hips than other boys. As teens, XXY males may have larger breasts, weaker bones, and a lower energy level than other boys. By adulthood, XXY males look similar to males without the condition, although they are often taller. They are also more likely than other men to have certain health problems, such as autoimmune disorders, breast cancer, vein diseases, osteoporosis, and tooth decay.
How It Affects Fertility
Most men affected with Klinefelter’s syndrome are unable to produce sperm, although some do produce small amounts. If viable sperm is present, even in small amounts, it can be extracted and then inserted directly (via ICSI—intracytoplasmic sperm injection) into an egg for fertilization.
The XXY chromosome pattern cannot be changed. But there are a variety of ways to treat the symptoms of Klinefelter’s. Testosterone replacement therapy (TRT) can greatly help XXY males get their testosterone levels into normal range. Having a more normal testosterone level can help develop bigger muscles, deepen the voice, and grow facial and body hair. TRT often starts when a boy reaches puberty. Some XXY males can also benefit from fertility treatment to help them father children.
If viable sperm is present, even in small amounts, it can be extracted and then inserted directly (via ICSI—intracytoplasmic sperm injection) into an egg for fertilization.
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