Klinefelter Syndrome

What are the symptoms of Klinefelter syndrome?

Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and many boys and men often do not realise they have Klinefelter syndrome until they go through puberty. In these instances, puberty may be late or incomplete. Sometimes, the condition may only be diagnosed in adulthood due to infertility.

The features of Klinefelter syndrome can vary and it is important to note that not all the features described will be seen in your child.

Most boys with Klinefelter syndrome can expect to live long and healthy lives.

The typical features of Klinefelter syndrome in an adult (if untreated) are:

• Growth. A tall and thin body with disproportionate long arms and legs.
• Physical features. Breast tissue development (gynaecomastia) and female pattern of fat distribution. Reduced facial and body hair.
  
• Small testicles. This feature is present in most people with Klinefelter syndrome.

Children and adolescents with Klinefelter syndrome may experience:

• Learning difficulties  
  • Delayed motor development
  • Difficulties with speech and reading
  • Poor muscle tone
  • Lower attention span
• Behavioural problems

In adulthood, in addition to the main typical features, untreated adults may have:

• Hypogonadism. Individuals with Klinefelter syndrome often have this condition where men are unable to produce enough of the male hormone, testosterone, for the body’s needs.
  
  Testosterone is important for normal reproductive and sexual function, and physical changes that happen during male puberty such as development of the penis and testes, and facial and body hair. It also helps the growth of bone and muscles.
  
  Hence, men with Klinefelter syndrome can have underdeveloped testes, low libido (sex drive), infertility and osteoporosis (thinning of the bones).
  
  Almost all men with Klinefelter syndrome will be infertile (sterile), which means they will be unable to father a child without medical help.

• Physical features. A physique which is less muscular than other men.
• Intelligence. Most men with Klinefelter syndrome have normal intelligence, though some may have their intelligence affected.
• Anxiety and depression

What are other medical concerns associated with Klinefelter syndrome?

The following problems can also be seen in individuals with Klinefelter syndrome, and need to be monitored for and treated if present:

• Cardiovascular diseases such as ischaemic heart disease, peripheral vascular disease and pulmonary embolism
• Metabolic syndromes such as dyslipidaemia and diabetes mellitus
• Breast cancer
  
• Thromboembolism (blood clots in blood vessels)
• Autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis and Sjogren’s syndrome