Klinefelter syndrome

 Klinefelter syndrome is a hereditary disorder which occurs when a baby boy is born with an additional copy of the X chromosome. It  is amongst the most frequent hereditary diseases affecting men.

The disease adversely affects growth of the testicles due to which the size of testicles is smaller than normal. This reduces the production of the sex hormone, testosterone. It can result in various other problems such as extra large breast tissues, less muscle mass, and less facial and body hair.

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Klinefelter syndrome effects vary and patients of this disease may not elicit similar sign and symptoms. The condition mostly remains undetected till adulthood. Affected men usually produce less or no sperm at all. However, reproductive techniques can help and make it possible for few affected males to father kids.

Symptoms of Klinefelter syndrome

Baby boys suffering from Klinefelter syndrome elicit minimal symptoms. Therefore,this disorder may not be diagnosed until adulthood. For adults, the signs are visible and can be diagnosed easily. Also,this disorder may lead to speech and learning difficulties in some boys. Symptoms of Klinefelter syndrome change by age; some of the symptoms as per the age-groups are:

  • Signs and symptoms in babies are:
    • Docile, quiet personality
    • Slow development of motor actions like taking longer time than average to crawl, sit and walk.
    • Speech difficulty
    • Weak muscles
    • Congenital issues, like undescended testicles
    • Symptoms in boys and teenagers include:
      • Weak bones
      • Shyness
      • Taller than the average height
      • Difficulty in socializing
      • Absent, delayed, or incomplete puberty
      • Low energy levels
      • Problems with writing, math, spelling or reading
      • Longer legs, broader hips, and shorter torso in comparison to other boys
      • Attention problems
      • Small testicles and penis
      • Signs in men:
        • Weak bones
        • Enlarged breast tissue
        • Taller than the average stature
        • Infertility
        • Small testicles and penis
        • Decreased facial and body hair
        • Sexual problem

When to see a doctor: If the development of the baby is far slower in comparison to other boys, then parents should consult the doctor immediately. Stunted growth is the 1stsign of a number of diseases which includes Klinefelter syndrome. Early intervention may help to limit and reduce further problems.

If a man is unable to father a child after one whole year of regular, unprotected sex, itis better to visit a doctor.

Causes of Klinefelter syndrome

Klinefelter syndrome isn’t an inherited condition; rather it happens due to an additional sex chromosome. This extra chromosomeforms as a result ofchance error after conception or during the development ofsperms.

Two sex chromosomes out of the forty-six human chromosomes help in determining the gender of a person. In women the sex chromosomes are written as XX, whereas in men it is XY. However, when there is an extra X chromosome that is XXY, it results in Klinefelter syndrome. The additional copy of X chromosome may further cause obstruction in the fertility and sexual growth of the patient. Extra copies of genes on the X chromosome can interfere with male sexual development and fertility.  In some cases, men with this syndrome may have the additional X chromosome in only few cells resulting in mild effects, whereas in some rare cases men may suffer from severe Klinefelter syndrome.

 Klinefelter syndrome diagnosis

There are two major methods to diagnose Klinefelter syndrome; this includes:

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  • Analysis of chromosome: This study is also known as karyotype analysis which helps to detect the disorder. A sample of blood is sent to the lab for inspection of the number of chromosomes and its nature. The results determine the disorder.
  • Hormone testing: Urine and/or blood samples are taken and examined in the laboratory. The tests can show the level of abnormal hormones, which is a symptom of Klinefelter disorder.

Treatment of Klinefelter syndrome

The different treatments for Klinefelter syndrome are as follows:

  • Physical and speech therapy: These therapies can assist patients to make improvements in muscle mass, language, and speech.
  • Testosterone replacement therapy: Men with low male hormone testosterone can opt for testosterone replacement therapy. In this, testosterone is injected or can be given in the form of topical gel. It improves the infertility and bone density, and also reduces the chances of fractures and growth of breast tissues.
  • Education:Additional support can be given to boys with severe symptoms of Klinefelter syndrome. It can help in improving the learning abilities.It can also be communicated to the boy’s teacher or school nurse for better support and help.
  • Psychological counselling: A psychologist or counsellor may assist in relieving stress and handling matters more smoothly.
  • Treatment for fertility: Many men with this disorder produce less or no sperm. Thereby they are not able to father children. This can be treated with the help of a treatment method known as intracytoplasmic sperm injection. In this, sperm is taken from the testicles through a biopsy needle and then injected into the egg.
  • Removal of breast tissue: Men who have extra-large breasts can get it corrected with the help of surgery. It involves removal of excess breast tissues by a surgeon, followed by cosmetic changes by a plastic surgeon.

Life Expectancy

A research-based publication in 1985 showed that life expectancy for Klinefelter Syndrome reduces by 5 years as opposed to normal individuals, and the afflicting causes usually are aortic valve problems and tumor issues. With ongoing medical development, unofficial sources have stated that the life expectancy has reduced by an average of 2.1 years.

Klinefelter syndrome pictures


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