Klinefelter Syndrome

What is Klinefelter syndrome?

Klinefelter syndrome is a chromosomal disorder that affects only males. In this condition, when a baby boy is born, he has an extra copy of X chromosome. In normal cases, a baby boy is born with one X chromosome and one Y chromosome. But with extra X chromosomes, there are some unusual physical traits in males.

What causes Klinefelter syndrome?

Klinefelter syndrome usually occurs when the genetic material in the egg or sperm splits unevenly.

What are the symptoms of Klinefelter syndrome?

The signs and symptoms of Klinefelter syndrome differ in babies, teenagers and adults.

• In babies – weak muscles, slow motor development (slow learning of crawling, walking & sitting), delay in speaking, birth defects like testicles not descended into scrotum
• Teenagers – very tall strature, long legs, shorter torso, broad hips, delayed/incomplete puberty, small penis, small testicles, enlarged breasts, low self-confidence, problems in reading/writing/spellings
• Adults – low sperm count, infertility, low sex drive, weak bones, small penis & testicles, enlarged breasts, increased belly fat

How can Klinefelter syndrome be treated?

Treatment for Klinefelter syndrome may include:

• In babies – weak muscles, slow motor development (slow learning of crawling, walking & sitting), delay in speaking, birth defects like testicles not descended into scrotum
• Teenagers – very tall strature, long legs, shorter torso, broad hips, delayed/incomplete puberty, small penis, small testicles, enlarged breasts, low self-confidence, problems in reading/writing/spellings
• Adults – low sperm count, infertility, low sex drive, weak bones, small penis & testicles, enlarged breasts, increased belly fat