Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males. The main attributes are sterility and little testicles. Frequently symptoms can be subtle and a lot of people don’t realize they’re influenced. Occasionally symptoms are more notable and might include poorer muscles, higher elevation, inadequate coordination, less body hair, breast development, and less interest in sex. Frequently it’s simply at puberty that these signs are noticed. Intelligence is usually normal; nonetheless, reading issues and issues with speech are somewhat more prevalent. Symptoms are usually more acute if three or more X chromosomes are found.
Klinefelter syndrome generally occurs randomly. An elderly mum might have a slightly greater probability of a child with Klinefelter syndrome. The underlying mechanics involves at least one extra X chromosome along with some Y chromosome such that there’s a total of 47 or more chromosomes in contrast to the typical 46. KS is recognized from the genetic evaluation called a karyotype.
Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a common genetic condition affecting males, and it often isn’t diagnosed until adulthood.
Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome vary, and not everyone has the same signs and symptoms.
Most men with Klinefelter syndrome produce little or no sperm, but assisted reproductive procedures may make it possible for some men with Klinefelter syndrome to father children.
Symptoms of Klinefelter syndrome
Signs and symptoms of Klinefelter syndrome differ widely among men with the disease. Many boys with Klinefelter syndrome have several noticeable indications, and the condition may go undiagnosed until adulthood. For many others, the illness has a noticeable impact on appearance or growth.
Signs and symptoms of Klinefelter syndrome also vary by age.
Babies
Signs and symptoms may include:
- Weak muscles
- Slow motor development — taking longer than average to sit up, crawl and walk
- Delay in speaking
- Quiet, docile personality
- Problems at birth, such as testicles that haven’t descended into the scrotum
Boys and teenagers
Signs and symptoms may include:
- Small penis
- Enlarged breast tissue (gynecomastia)
- Weak bones
- Low energy levels
- Tendency to be shy and sensitive
- Difficulty expressing thoughts and feelings or socializing
- Problems with reading, writing, spelling or math
- Taller than average stature
- Longer legs, shorter torso and broader hips compared with other boys
- Absent, delayed or incomplete puberty
Men
- Low sperm count or no sperm
- Small testicles and penis
- Low sex drive
- Taller than average height
- Weak bones
- Decreased facial and body hair
- Less muscular than normal
- Enlarged breast tissue
- Increased belly fat
Causes
It occurs as a consequence of a random mistake which leads to a man to be born with an excess sex chromosome. It is not an inherited illness.
Humans have 46 chromosomes, such as two sex chromosomes that determine an individual’s sex. Females have two X sex chromosomes (XX). Men have an X and a Y sex chromosome (XY).
Klinefelter syndrome can be caused by:
- One extra copy of the X chromosome in each cell (XXY), the most common cause
- An extra X chromosome in some of the cells (mosaic Klinefelter syndrome), with fewer symptoms
- More than one extra copy of the X chromosome, which is rare and results in a severe form
Extra copies of genes on the X chromosome can interfere with male sexual development and fertility.
