Klinefelter Syndrome

What is Klinefelter syndrome?

Klinefelter syndrome is a condition that occurs when males are born with an extra X chromosome. It affects different males in different ways, and it is often not diagnosed until adulthood.

What are the symptoms of Klinefelter syndrome?

Symptoms vary in severity, and not every affected individual experiences every symptom. They also change as one ages. For example, babies will see a delay in speech, issues at birth, slow motor development, and weak muscles.

As they age, symptoms include low energy, absent or delayed puberty, being taller than average, weak bones, enlarged breast tissue, issues with reading and other subjects, small penis, firm testicles, issues with expressing oneself, and physical abnormalities.

After a male is done growing, symptoms expand to include low or no sperm, a low sex drive, little body and facial hair, increased belly fat, and less muscle. They may also be infertile.

What causes Klinefelter syndrome?

This condition is not inherited; it is a random error. The most common cause is when each cell has an extra copy of the X chromosome, but sometimes only some of the cells have an extra copy. In rare cases, there is more than one extra copy of the X chromosome.

How is Klinefelter syndrome diagnosed?

A physical exam is the first step in a diagnosis, which is followed by hormone testing and chromosome analysis. A diagnosis is often not obtained until adulthood.

What are the treatments for Klinefelter syndrome?

Treatment is based on the symptoms that each individual presents. Treatment options include testosterone replacement therapy, speech and physical therapy, fertility treatment, breast tissue removal, educational support, and psychological counseling.

Where can I find out more about Klinefelter syndrome?