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Klinefelter syndrome: Treatment, symptoms, advice and help

About Klinefelter syndrome

Klinefelter syndrome is a genetic disorder characterised by physical abnormalities and learning disabilities in the individual. The genetic disorders occur either due to deletion or addition of chromosome material. Klinefelter syndrome results from the presence of extra X chromosome in a male.

Klinefelter syndrome: Incidence, age and sex

Klinefelter syndrome is one of the most common genetic disorders and is present right from birth. 1 in every 500 males is affected with this chromosomal disorder. Its incidence is more in baby boys born to women who have pregnancy after the age of 35 years.

Signs and symptoms of Klinefelter syndrome: Diagnosis

The clinical spectrum of Klinefelter syndrome includes physical abnormalities, reproductive problems and mild developmental delays. The physical abnormalities include disproportionate body proportions like relatively short trunk with long legs, reduced body hair, reduced muscle control and enlarged breast (gynaecomastia). Individuals with Klinefelter syndrome also have small testicles and are generally unable to father a child (infertility). The developmental delays include mild learning disabilities, language and speech delay in boys.

The syndrome can be suspected by finding the above clinical features in an affected individual. This diagnosis can be corroborated by certain tests like blood test (measure levels of sex hormones), semen analysis and karyotyping.

Causes and prevention of Klinefelter syndrome

Klinefelter syndrome occurs due to the presence of an extra X chromosome in the male child. An individual normally has 23 pairs of chromosomes including 1 pair of sex chromosomes. In females, both the sex chromosomes are alike and are termed XX while in males they are different known as XY. But in Klinefelter syndrome, the male has 1 extra X chromosome, resulting in XXY formulation of the sex chromosome. This is not an inherited condition. The main risk factor for Klinefelter syndrome is increasing maternal age. It is especially seen in baby boys born to women more than 35 years of age at the time of conception.

Klinefelter syndrome: Complications

Individuals with Klinefelter syndrome have increased risk of osteoporosis (thinning of the bones), breast cancer, lung disease and systemic lupus erythematosus. Young children with Klinefelter syndrome may also have concurrent learning disorder, dyslexia or attention deficit hyperactivity disorder(ADHD).

Klinefelter syndrome: Treatment

Most of the individuals with Klinefelter syndrome lead a normal and productive life. The management of this syndrome includes a multi-dimensional approach. A speech therapist helps in improvement of speech, if needed. A special educational aid may be required occasionally for boys with mild learning disabilities. An occupational therapist may also play a role in effective management of the affected individual. Sometimes, testosterone therapy may be provided to augment body hair, muscle strength and libido. Some individuals who have prominent breast tissue may require breast reduction surgery. Overall, affected individuals lead a successful life and have a normal life span.