Sunday, August 04, 2002
Common genetic abnormality often undetected
Men lobby for early abnormality detection
By The Associated Press
COLUMBUS Many men with a common genetic abnormality don't find out until they have trouble fathering children.
About one in every 500 males is born with a common problem in the chromosomes that determine gender, but about two-thirds of cases go undiagnosed.
Boys, men and families affected by what's known as Klinefelter's syndrome have gathered here this weekend to share support, gather information and debunk myths. They're hoping to increase early detection of the condition, described as the most common chromosomal abnormality.
A person's sex is determined by one of the body's 23 pairs of chromosomes. Females have two X chromosomes, while males have an X and a Y. Males with Klinefelter's have an extra X chromosome.
Symptoms in youth include delayed speech, coordination problems, language-based learning difficulties and impaired social skills.
The syndrome often is misdiagnosed as attention deficit disorder, autism or dyslexia, said Dr. Jay Giedd, a child psychiatrist and chief of the brain imaging unit at the National Institutes of Health.
Affected boys usually aren't diagnosed until they hit puberty and physical signs appear, including small testicles, enlarged breasts and sparse facial hair. Some never find out until they can't conceive children.
Treatment with the male sex hormone testosterone can help treat the symptoms but is most effective before puberty, Dr. Giedd said. It can give the men a more normal appearance and reduce the risk of developing some diseases.
Low testosterone production puts Klinefelter's patients at risk for autoimmune disorders, hypothyroidism, breast cancer, osteoporosis, leg ulcers and depression.
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