Klinefelter’s Syndrome is a genetic condition that occurs when a male child is born with an extra X chromosome. The syndrome affects different stages of physical and social development and is one of the most common genetic conditions affecting the male population.
Many babies and young boys with Klinefelter’s Syndrome have few noticeable symptoms, which is why the condition often is not diagnosed until adulthood. The symptoms that present in babies often include weak muscles, slow motor development (taking longer than average to sit, crawl or walk), and/or delays in speaking – all which can be attributed to other issues. Only issues during birth (i.e., testicles that do not descend into the scrotum), present a possibility of early diagnosis.
For adolescents and older males, the syndrome has noticeable effects on growth and appearance. Boys may be taller than average, have longer legs, a shorter torso, and/or broader hips compared to other boys. Klinefelter’s patients produce inadequate levels of the male hormone testosterone, which may delay the onset of puberty. Teens may have less facial or body hair, be less muscular than other boys, or experience enlarged breast tissue (gynecomastia), and a small penis. It is not uncommon for the patient to be self-conscious and have trouble fitting in, and teasing from other adolescents may further contribute to reduced self-esteem and/or behavioral issues.
Adults males often have a small penis, small testicles, decreased sex drive, infertility, and other sexual problems. Inability to conceive is usually the item that prompts men to visit the physician and learn the cause of the problem. Weak bones may also plague adult males with Klinefelter’s Syndrome, leaving them vulnerable for other health concerns.
Klinefelter’s Syndrome results from a random error that causes males to be born with an extra sex chromosome. Of the 46 human chromosomes, the two sex chromosomes determine gender. In females, both sex chromosomes are X (written XX), while males have one of each X and Y chromosomes (written XY). Usually the cause of Klinefelter’s Syndrome is an extra copy of the X chromosome in each cell (XXY) which interferes with male sexual development and fertility.
Klinefelter’s is the result of a random genetic event and is found in approximately 1 out of every 500-1000 newborn males. The additional sex chromosome results from error during formation of egg or sperm, with approximately a 50/50 ratio. The risk of bearing a child with Klinefelter’s Syndrome is slightly increased in women over 35 than those who give...