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Symptoms, diagnosis and causes of klinefelter syndrome

Symptoms, diagnosis and causes of klinefelter syndrome

Symptoms, diagnosis and causes of klinefelter syndrome

Symptoms, diagnosis and causes of klinefelter syndrome

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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.

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

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

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.

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).

Submit a request for further information, a quotation or indicative cost. Your enquiry will be forwarded to up to 3 private healthcare providers. They will respond directly with further information.

Get a quote for klinefelter syndrome treatment >

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