How do I know if I have klinefelter syndrome?

Blood work. Have chromosomes tested.
Klinefelter syndrome. Klinefelter syndrome occurs only in men and is defined classically by a 47, XXY karyotype instead of the usual male sex complement (genotype xy). These males have enlarged breasts, sparse facial and body hair, small testes, an inability to produce sperm, some mental retardation and psycho-social problems. One has to be evaluated by both an endocrinologist and a geneticist.

Related Questions

I am in 15 my testicles size is 5Cmx2.5Cmx2.5Cm as length X width X height. Is that size denies that I have klinefelter syndrome?

Testes. Robert, I don't fully understand your question. What makes you think of Klinefelter's? At age 15 your testes may still be growing larger. Also, have your pediatric doctor send you the growth curves for your height and weight. If your levels are not in order you will need additional evaluation. Read more...
Why do you ask? Klinefelter is a spectrum, but that's actually a pretty big pair -- you're bigger than most of your male buddies. I have trouble believing these measurements unless you actually have Fragile X! If you're getting erections and ejaculations like the other guys, XXY is unlikely and your physician can check to see if you're producing sperms if you can give him a reason. Enjoy becoming a man. Read more...

What is the basic cause of klinefelter syndrome?

Extra X chromosome. The phenotypic male, with a y chromosome, has more than on x chromosome, associated with poor testicular development, infertility and obesity. Read more...
Extra chromosome. The egg is supposed to have only one of the chromosome pairs as they await fertilization. If the sex chromosome did not separate properly when the egg formed,it remains behind and the sex "pair" of the embryo becomes a sex triplet. The XXY joins the other 22 pairs of chromosomes to build the fetus. The extra is not enough to cause fetal loss, but the resulting baby has Klinefelter and its problems. Read more...

I think I may have klinefelter syndrome. What should I do?

See doctor. You should see an endocrinologist for the answer. There are physical features of klinefelters. The doctor can either confirm your suspicions or get rid of your concerns. Read more...
See your PCP. Your pcp can order the specific genetic blood test that can confirm or exclude the issue. If you are not and are concerned about specific issues, your pcp will know what local sources are available to sort them out. Read more...