Urology of Greater Atlanta

Klinefelter Syndrome

Klinefelter syndrome (also known as XXY syndrome) is a common genetic condition found in males that results when a boy is born with an extra X chromosome. A male is typically born with two sex chromosomes, one X sex chromosome, and one Y sex chromosome.

This condition can cause many side effects in males, such as lower testosterone production, reduced muscle mass, enlarged breast tissue, reduced facial and body hair, male infertility, and learning difficulties.

Klinefelter syndrome is a condition that is present from the time of birth, certain tests can be done to diagnose Klinefelter syndrome before birth, but the condition is often diagnosed later in life during adulthood.

Klinefelter syndrome is fairly common and occurs in 1 out of 600 males. Many men might not even know they have this condition. This is the case with males who only have an extra sex chromosome present in some cells. This condition is called Mosaic Klinefelter syndrome. In these cases, symptoms are milder and may even be undetectable.

If you need advice, diagnostic testing, or treatment, don’t hesitate to speak to the board-certified urologists at Urology of Greater Atlanta. They have extensive experience in diagnosing and treating Klinefelter Syndrome. So make an appointment today by phone or online for expert urological care.

What Are the Symptoms of Klinefelter Syndrome?

The symptoms and signs of Klinefelter syndrome can vary among males with the disorder. For example, some males will have severe symptoms early in life, while others may not notice any symptoms until adulthood when they try to father children.

Some common signs and symptoms of Klinefelter syndrome specific to each stage of life are listed below.


Signs and symptoms of Klinefelter syndrome in infants may include:

  • Slow motor development (taking longer than the average infant to sit up, crawl and walk)
  • Delay in speaking
  • Problems at birth (such as the testicles that haven’t descended into the scrotum)
  • Weak muscles
  • Quieter personalities

Boys and Teenagers

Signs and symptoms of Klinefelter syndrome in boys and teenagers may include:

  • Small penis and testicles
  • Enlarged breast tissue (gynecomastia)
  • Weaker bones
  • Low energy levels
  • A low amount of facial and body hair
  • Abnormal body proportions (being taller, less muscular, having broader hips, and having longer legs and arms than other boys or teens)
  • Incomplete puberty
  • Having poor coordination
  • Problems learning skills such as reading, math, and writing
  • Emotional immaturity
  • A tendency to be shy and sensitive
  • Behavioral problems
  • Depression and anxiety


Signs and symptoms of Kleinfelter syndrome in men may include:

  • Small penis and testicles
  • Low sex drive
  • Enlarged breast tissue (gynecomastia)
  • Testicular failure (low sperm count)
  • Abnormal body proportions
  • Weak bone density
  • A low amount of facial and body hair
  • Less muscular compared with other men
  • Increased belly fat
  • Metabolic syndrome
  • Depression and anxiety

Klinefelter Syndrome Treatment

There are several different treatments for those diagnosed with Klinefelter syndrome.

Some of the treatments used to treat the symptoms of Klinefelter syndrome include:

  1. Surgery: Those with Klinefelter syndrome often have larger breast tissue than other males. Usually, this extra breast growth can be very bothersome to the person. In some cases, a healthcare provider will suggest that the person with Klinefelter syndrome undergo surgery to remove extra breast tissue.

    Breast tissue reduction surgery can often help individuals with Klinefelter syndrome to be happier with their overall appearance and can boost their confidence. It is recommended that breast tissue reduction surgery be performed on adults instead of young boys or teenagers.

  2. Therapy: Those with Klinefelter syndrome may need assistance from several different therapists, such as physical/occupational therapists, speech and language therapists, and emotional and behavioral therapists. Receiving therapy from these sources can help those diagnosed with Klinefelter syndrome develop muscle strength, address speech issues, cope with anxiety, depression as well as manage other common symptoms of Klinefelter syndrome.

  3. Hormone Replacement: Those with Klinefelter syndrome often have low testosterone levels. Testosterone replacement therapy can minimize some of the symptoms of the condition. Testosterone treatment can occur in men and boys with Klinefelter syndrome via hormone injection or gels. Testosterone therapy can often result in more body and facial hair, a deeper voice, stronger muscles, and an increased sexual desire in men and boys with Klinefelter syndrome. 

Contact Us

If you have concerns regarding Klinefelter syndrome and would like to know about the available treatment options, then make an appointment to speak to one of the urologists at Urology of Greater Atlanta. Call or book an appointment now.

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