Klinefelter’s Syndrome

Klinefelter’s syndrome results from a genetic abnormality characterized by the presence of an extra X chromosome in male children, in addition to the normal XY configuration.

  • Klinefelter’s syndrome is caused by an extra X chromosome.
  • Lower IQ, learning difficulties, especially with respect to language, and infertility, are the usual symptoms. Small testes, and long hands and legs, are typical physical features associated with Klinefelter’s syndrome.
  • The abnormality is usually diagnosed at puberty when typical symptoms start appearing.
  • Hormone treatment with the male hormone testosterone may help people with Klinefelter’s syndrome.

Klinefelter’s syndrome is a commonly occurring genetic abnormality. However, external physical abnormalities and symptoms are not many; hence this condition is not usually suspected in the newborn. Affected boys may grow tall and their hands and legs also may be very long too. Slightly reduced intelligence quotient is common. They may have problems with speech and communication. Their verbal intelligence may be comparatively low, with considerable difficulty in expressing themselves. Inability for planning, learning from mistakes, lack of judgment and insight, are some of the deficiencies which may get the affected boys into trouble frequently while growing up.

The boys affected by Klinefelter’s syndrome usually reach puberty normally, even though their testes may remain smaller than normal. Gynecomastia, or enlargement of breasts, may occur at the time of puberty, while facial hair may be scanty. In spite of certain pubertal changes occurring at the normal age, the affected youngsters remain infertile. They have a higher risk of developing several disorders such as hypothyroidism, diabetes mellitus, varicose veins, and chronic lung disease, when compared to normal men. The incidence of breast cancer is also higher in men with this abnormality.

Among those who have Klinefelter’s syndrome, some may have more than 2 copies of X chromosomes in addition to the normal Y chromosome. Up to 5X chromosomes have been detected in some cases. The more the number of extra X chromosomes, the worse the symptoms associated with this abnormality. About 15-point reduction in IQ is found to be associated with each of the extra copy of X. Language skills, especially with respect to communication, and self expression, are greatly affected.

Klinefelter’s syndrome is not usually suspected until the affected boys reach puberty, as most of the typical symptoms start developing around that time. A chromosome analysis may help confirm the diagnosis. In many cases, the syndrome is not detected till men undergo infertility assessment as part of infertility treatment. Almost all men with this condition are infertile.

Early intervention and special educational inputs such as speech therapy and language development programs can help boys who have Klinefelter’s syndrome to perform well academically. Taking the hormone testosterone regularly may help men in developing masculine features. It may have to be taken throughout life. Other benefits of hormone therapy include increase in bone density, which may prevent fractures. Regular thyroid tests, blood sugar tests, and screening for cancer and lung disease, can help diagnose diseases early, and initiate appropriate treatments to avoid complications.

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Yasser Elnahas

MD, PHD, Professor Of CardioVascular Surgery
Dr. Yasser Elnahas, Is an associate Professor of Cardiovascular Surgery. Dr. Elnahas was trained as a fellow At Texas Heart Institute And Mayo Clinic Foundation.Dr. Elnahas is dedicated to educating the general public about different disease conditions and simplifying the medical knowledge in an easy to understand terminology.

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