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Klinefelter Syndrome – Causes and Symptoms of Klinefelter Syndrome

Klinefelter syndrome is a genetic condition that affects mostly the males. It is also called as XXY condition. Instead of common XY chromosome pattern in the cells of males, XXY pattern occurs in this condition. This means an extra X chromosome occurs. It affects the testosterone hormone production which is very important in males. The hormone helps in development of secondary sexual characters like facial hair, reduced body, enlarged breast tissue and muscle growth.

It is estimated that about 1 to 2 in 1000 males are affected. The condition cannot be diagnosed until adulthood. Most men are sterile i.e cannot become a father.

Causes of Klinefelter Syndrome
Klinefelter syndrome is caused when a male receives an extra X chromosome from either of the parent. This happens during embryo formation where the chromosomes are randomly placed in the embryo. It is hence called to a random genetic event.

Contrary to other chromosomal disorders like Down syndrome, having an old mother at birth and a family history of Klinefelter syndrome doesn’t increase the risk of the condition.

Symptoms of Klinefelter Syndrome

Symptoms of Klinefelter syndrome vary according to the age. In few cases, symptoms do not occur until adulthood and in few other cases only unnoticeable symptoms develop. The signs and symptoms of Klinefelter syndrome according to age include:
Infants

  • Weak muscles
  • Walk slowly
  • Take a longer time to sit and crawl

Boys and Teenagers

  • Possess tall legs and are taller
  • Stage of puberty is late
  • Less body and facial hair
  • Weak muscles
  • Smaller testicles
  • Lower energy levels
  • Weaker bones
  • Enlarged breast tissue
  • Shy feeling

Men

  • Taller than average height
  • Infertile i.e cannot father a child
  • Weak bones

When to seek a Medical Professional
You should consult a doctor to eliminate the Klinefelter syndrome or any other condition related to it if you or your son seem to experience the symptoms.

  • Infertility in males – Seek a doctor if you are unable to father a child. In some cases, you may have the chances to father a child. But you should get the syndrome treated to prevent further complications.
  • Slow development during infancy and childhood – Seek a doctor if your child’s physical and mental growth is slow than a normal child. There would be delay in the child’s development and growth if the child has Klinefelter syndrome. Doctor may suggest testosterone therapy at the time of puberty. This helps to prevent problems that would occur in the future.

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