47 XXY Syndrome Definition

47 XXY syndrome is popularly known as the Klinefelter's syndrome, or simply, the XXY syndrome. Chromosome aneuploidy causes the occurrence of this condition. The male patients develop an extra X chromosome. Typically, males should have one each of the X and the Y chromosomes. Patients who suffer from this condition have smaller testicles when compared to their normal male counterparts and thus, they acquire problems on infertility. There are very few symptoms to this syndrome and the cases vary among boys and men. The term for this illness was named after an endocrinologist, Harry Klinefelter. 1942 was the year when he first described the XXY syndrome. The patients who suffer with XXY syndrome are called XXY males or 47,XXY males.

47 XXY Syndrome Frequency

Approximately 1 in every 500 to 1,000 males suffers from this syndrome.

47 XXY Syndrome Diagnosis

To confirm diagnoses of XXY syndrome, karyotypes are often used. This means that blood sample is drawn from the patient (only a small quantity is taken) then the white blood corpuscles are separated. These white blood particles are then mixed with tissue culture medium. The next step is to incubate the mixture and then to observe for an extra X chromosome.

47 XXY Syndrome Treatment

Testosterone treatment could not alter the genetic abnormality but it can help in treating some of the symptoms. It is also advisable that boys or men with this condition undergo psychosocial therapy where they would have a support group that would understand and not condemn them.

47 XXY Syndrome Symptoms and Signs

More often than not, the patients become sterile when they become XXY males. There is a slight chance, though, that reproductive aid may be given. There are also reported cases of impairment in learning verbal skills and this is often diagnosed when neuropsychological tests are done. Some males who are afflicted with this condition could also develop the so-called 'man boobs' or enlarged male breasts. About 10% of the known cases of gynecomastia would need surgery. Hypogonadism could also result once the extra X gene is acquired. This means that the patient would have testicles that malfunction. The most severe cases could even develop tumors and cancer cells where the male patients suffer from breast cancer.

47 XXY Syndrome Complications

Patients with XXY syndrome have higher tendencies of acquiring germ cell tumors. They have about 50% more chance of getting these tumors than normal males. These tumors, though, do not often grow on the testicular region.

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