By Abanoub Narouz and Omar Omar Klinefelter Syndrome By Abanoub Narouz and Omar Omar

Definition of the Disorder Klinefelter syndrome is a chromosomal condition in which there is a presence of an extra X chromosome in a male. This syndrome affects the testes.

Description of the Symptoms Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) Abnormally large breasts (gynecomastia) Infertility (the inability of being sexually active, meaning not having a baby after a year) Sexual problems Less than normal amount of pubic, armpit, and facial hair (Compared to a normal male) Small, firm testicles Tall height

The Cause? It happens randomly from an error in cell division when a parent's reproductive cells are being formed. No it isn’t a mutation Yes it is a genetic tendency triggered by receiving an extra x chromosome from the mother.

Inheritance? Klinefelter syndrome is a condition related to the X and Y chromosomes (the sex chromosomes), which means that they are sex linked traits. Klinefelter syndrome results from the presence of one extra copy of the X chromosome in each cell making it XXY . This disorder is neither dominant nor recessive because it is caused by error in paternal or maternal meiosis.

Treatment? Testosterone therapy may be prescribed by a special doctor called an endocrinologist. This can help: Grow body hair Improve appearance of muscles Improve concentration Improve mood and self esteem Increase energy Increase strength

Diagnosis? Klinefelter syndrome may first be diagnosed when a man comes to the doctor because of infertility, which is the most common symptom. The following tests may be performed: Karyotyping which is a test to examine chromosomes in a sample of cells, which can help identify genetic problems as the cause of a disorder or disease. This test can count the number of chromosomes, and look for structural changes in chromosomes. Doctors can also make a semen count, which is counting the sperm in a male. Some blood tests will be done to check hormone levels including: Luteinizing hormone Testosterone There has been attempts for genetic counseling but it remains very difficult.

Popularity? Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. This is also a very rare disease and it occurs in men only.

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