Klinefelter's Syndrome (클라인펠터 증후군)

Klinefelter's syndrome is one of the most common sex chromosome disorders among males, affecting up to 1 in 500 births. A completely random occurrence, the condtion arises when a boy inherits an extra X chromosome from one of his parents. Instead of the typical XY, boys with Klinefelter's syndrome have an XXY set.

 

이러한 정황은 1942 년 보스톤에 있는 Massachusetts General Hospital 의 외과의사 헨리 클라인펠터에 의해 처음으로 확인되었다. 그는 아홉사람의 커진 유방, 작은 고환, 듬성듬성한 얼굴, 몸의 털들, 정자생성능력 불능 등의 기록을 발표했다. 이러한 증상들은 낮은 테스토스테론 레벨의 결과로써 클라인펠터 증후군과 연관되어진다.

 

Most cases of Klinefelter's aren't diagnosed until later in life. Babies show few symptoms, although they tend to take longer to sit up and crawl than other infants. During puberty, they may have smaller testicles, less body hair, and lower energy levels than other boys their age. Men with Klinefelter's syndrome often are unable to father children, because they don't produce a normal amount of sperm. They also have an increased risk of varicose veins, osteoporosis, and abdominal fat.

 

이러한 장애를 진단하기 위해서 의사들은 호르몬 테스트과 염색체 분석 혹은 핵형분석을 수행한다. 의사들은 자주 사춘기 동안 테스토스테론 치료를 해주거나 어떤 남자들에게는 과대한 유방조직을 제거하는 수술을 권하고 있다.

 

 

Some men with Klinefelter's syndrome who wish to father children can opt for a treatment known as testicular aperm extraction, in which sperm are removed from the testicles and injected directly into the egg.

 

People affected by the condition have a 25 percent chance of having mental retardation.