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Klinefelter syndrome

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Genetics of the disease

Klinefelter syndrome is a genetic abnormality that affects only males.
The disorder is named after Dr.Harry Klinefelter, who first reported its symptoms in 1942.
Males normally have an X chromosome and a Y chromosome (XY). But males who have klinefelter syndrome have an extra X chromosome (XXY), giving them a total of 47 instead of the normal 46 chromosomes.

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Cause of the disease

Normally, males inherit one X chromosome from their mother and one Y chromosome from their father.But those who have Klinefelter syndrome inherit an extra X chromosome.
Klinefelter syndrome is typically caused by non disjunction.
If a pair of sex chromosomes fails to separate during the formation of an egg (or sperm), this is referred to as non disjunction.
When that egg unites with a normal sperm to form an embryo, that embryo may end up with three copies of the sex chromosomes (XXY), instead of the normal two (XY).The extra chromosome is then copied in every cell of the baby’s body.

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Karyotype of the disease

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Symptoms of the disease

For men who have signs and symptoms, these often develop during puberty when the testes do not develop as they should. Symptoms of the disease include:

Enlarged breasts – gynecomastia
Small penis
Sparse facial and body hairs.
Abnormal body proportions (usually the tendency to have long legs and a short trunk).
Intellectual disabilities.
Infertility.
Anxiety, depression.
Small testicles.

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Diagnosis of the disease

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Klinefelter syndrome is most often diagnosed in adulthood, using a karyotype, an analysis of the patient’s chromosome taken from a blood sample.

The disorder may also be diagnosed during a woman’s pregnancy. Doctors can look for the chromosome abnormality in cells taken from the amniotic fluid that surrounds the fetus or from the placenta.

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Treatment of the disease

Hormone replacement therapy is the the best way to treat this disorder. Teenagers are typically given testosterone injections to replace the hormone that would normally be produced by the testes. Synthetic testosterone works like natural testosterone –it builds muscles and increases hair growth.