Question

How is Klinefelter's diagnosed?

Answer 1

Klinefelter syndrome:

1. Klinefelter syndrome is a genetic disorder where a male is born with an extra X chromosome.
2. A typical male has a total of 46 chromosomes (46, XY). But, a person with Klinefelter syndrome has 47 (47, XXY).
3. Some of its signs are being born with a smaller penis, and/or undescended testicle(s), having abnormal body proportions, weaker bones, and infertility.

Diagnosis of Klinefelter syndrome:

1. Hormone testing - Hormone levels are tested by taking blood or urine samples. Abnormal hormone levels are a sign of Klinefelter syndrome.
2. Chromosome analysis - Also called karyotype analysis, this blood test checks the shape and number of chromosomes