Sean O'Keefe and Shawn Jacobs

external image kleinfelter_karyotype.jpg

Where on Chromosome is Problem?

Klinefelter syndrome is a disorder that affects only males. Males normally have an X chromosome and a Y chromosome. But males who have Klinefelter syndrome have an extra X chromosome (XXY).

What Is the Problem?

Klinefelter syndrome is typically caused by what is called nondisjunction. Nondisjunction is when a pair of sex chromosomes fail to separate during the formation of an egg (or sperm). When that sperm unites with a normal egg 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 spreading the congenital disorder. At puberty, men with this syndrome often develop more breast tissue than normal, have a less muscular body, and grow very little facial or body hair. Most men find that they are sterile because of the effects this disorder has on their sperm productivity. Learning disabilities are also a common problem for them.

What is the Prognosis?

Hormone treatment therapy and testosterone injections are used to treat this disorder, the disorder is non-fatal and patients with this birth defect have very high chances of living.

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