Klinefelter’s syndrome(X XY syndrome)

A genetic condition in which a male is born with an extra copy of the X chromosome

Klinefelter’s syndrome isn’t inherited, but rather occurs only as a result of a random genetic error after conception.

Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome vary, and not everyone has the same signs and symptoms.Most men with Klinefelter syndrome produce little or no sperm, but assisted reproductive procedures may make it possible for some men with Klinefelter syndrome to father children.

Symptoms 

Signs and symptoms of Klinefelter syndrome vary widely among males with the disorder. Many boys with Klinefelter syndrome have few noticeable signs, and the condition may go undiagnosed until adulthood. For others, the condition has a noticeable effect on growth or appearance.

Signs and symptoms of Klinefelter syndrome also vary by age.

Babies

Signs and symptoms may include:

  • Weak muscles
  • Slow motor development — taking longer than average to sit up, crawl and walk
  • Delay in speaking
  • Quiet, docile personality
  • Problems at birth, such as testicles that haven’t descended into the scrotum

Boys and teenagers

Signs and symptoms may include:

Taller than average stature

Longer legs, shorter torso and broader hips compared with other boys

Absent, delayed or incomplete puberty

After puberty, less muscle and less facial and body hair compared with other teens

Small, firm testicles

Small penis

Enlarged breast tissue (gynecomastia)

Weak bones

Low energy levels

Tendency to be shy and sensitive

Difficulty expressing thoughts and feelings or socializing

Problems with reading, writing, spelling or math

Men

Low sperm count or no sperm

Small testicles and penis

Low sex drive

Taller than average height

Weak bones

Decreased facial and body hair

Less muscular than normal

Enlarged breast tissue

Increased belly fat

One common treatment is testosterone replacement therapy. It starts at puberty and can spur on typical body changes, such as facial hair and a deeper voice. It can also help with penis size and stronger muscles and bones, but it won’t affect testicle size or fertility.

Treatment

Testosterone replacement therapy throughout your life can help prevent some of the long-term problems that come with Klinefelter.

Other treatments may include:

 

Counseling and support for mental health issues

Fertility treatment (in some cases, using your own sperm to father a child)

Occupational and physical therapy to help with coordination and build muscles

Plastic surgery to reduce breast size

Speech therapy for children

Support in school to help with social skills and learning delays

If your child has Klinefelter, you can suggest that he:

 

Play sports and other physical activities to build muscles

Take part in group activities to learn social skills

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