Klinefelter syndrome is the most common cause of male infertility. It is a sex chromosome variation that occurs in 1 in 500 males. Most men do not demonstrate symptoms. Normally, males have one X chromosome in their cells. Males affected byÃ‚Â Klinefelter syndrome have one (or more) extra X chromosome in most of their cells.
The extra chromosome impacts their:
- Bone Strength
- Language development
- Breast size
- LearningÃ‚Â ability
- Energy levels
- Muscle mass
- Hair growth
- Social development
- Thought process
- Hip girth
Another name for Klinefelter syndrome is XXY syndrome, a very literal description of the chromosome abnormality.Â It’s worth noting that while Klinefelter is the main cause of infertility in men it does not mean that all Klinefelter sufferers will be infertile. If you have Klinefelter Syndrome, you are not necessarily infertile.
Who discovered the syndrome?
Dr. Harry Klinefelter discovered and defined the XXY syndromeÂ in 1942, while helpingÂ male patients at Massachusetts General HospitalÂ (Boston).Â The actual genetics were worked out by doctors later on, between 1956-1959. their names were: Joe Hin Tjio, Albert Lavan, and Patricia Jacobs.
What causes Klinefelter syndrome?
Klinefelter syndrome develops at the time ofÂ conception. After the egg is fertilized, chromosome pairs are meantÂ to separate, so that they join with different daughter cells. Two daughter cells are supposed to receive one chromosome each. SometimesÂ the pairÂ does not separate and instead both of the chromosomes goÂ toÂ the sameÂ daughter cell and the other daughter cell is left on it’s own. This problem is known asÂ meiotic nondisjunction and is more commonÂ in older mothers.
This genetic problemÂ causes the baby toÂ develop abnormally, especially in the male/female characteristics. Most common areÂ the abnormal development of theÂ pituitary gland, testicles, and hypothalamus portion of the brain. The boyâ€™s testicles don’t grow properly and as adults, they cannotÂ produce enough sperm. Â Clear, glassy collagen fibers, called hyaline, replace the healthy tissue.
Scar tissue (fibrosis) forms in the seminiferous tubules, where the sperm form. Klinefelter boys can also develop feminine breasts durign puberty – this happens in 50% of boys affected by Klinefelters. Often the Klinefelter man will be sterile. As you can see, living with Klinefelters is a struggle but it is manageable. However, all these symptoms and side effects can cause psychosocial issues, especially as the boy becomes a man.Â The feminizing affects can result in low self-esteem.
Understand more on Klinefelter:
The information in this article has been taken with permission from the official Lawley booklet onÂ Understanding Kinefelter Syndrome.