Klinefelter Syndrome - Exams and Tests
Klinefelter syndrome can be detected before birth (prenatally) through amniocentesis or chorionic villus sampling (CVS). But this is not routinely done. It is usually diagnosed in childhood, during puberty, or in adulthood by a medical history, physical exam, and a chromosome test called a karyotype. Other lab tests, such as hormone tests or a semen analysis, may be done if Klinefelter syndrome is suspected.
Testing in childhood or during puberty
Klinefelter syndrome usually is not diagnosed before the preteen years because there are no symptoms or because symptoms go unnoticed until puberty. But a doctor may suspect Klinefelter syndrome when a young boy has difficulty learning to talk, read, or write.
Gray hair creeps up on you — sometimes literally. I was in my 30s, sporting a full beard, when I first noticed a few gray hairs appearing. Then there were more than just a few. It wasn’t long before the lumberjack image was beginning to give way to something closer to Old Father Time. It wasn’t just the image that bothered me. It was the way I felt. Sure, gray hair is supposed to make men look distinguished. To give them gravitas. Look at Bill Clinton. Look at the baby-faced newsman Anderson Cooper,...
Read the Gray Anatomy article > >
During puberty, some males may be suspected of having Klinefelter syndrome, including those who:
- Are taller than other males in their family and have long legs.
- Have small testicles that do not increase in size as puberty progresses.
- Have enlarged breast tissue that persists for more than 2 years.
- Have learning or social problems (such as lacking self-confidence and being shy, immature, or dependent).
- Have mild mental retardation. Klinefelter syndrome is present in about 1 out of 100 males who have mental retardation.3
Tests for Klinefelter syndrome during childhood or puberty usually include a medical history, physical exam, and karyotype.
Adult testing
Klinefelter syndrome may not be diagnosed until adulthood when a man seeks medical care to find out the cause of his infertility. About 3 out of 100 infertile men have Klinefelter syndrome.4 Tests include a medical history, physical exam, and karyotype. A man may also have hormone tests and a semen analysis.
WebMD Medical Reference from Healthwise
