Klinefelter syndrome is a genetic condition that results when a baby is born with an extra copy of X chromosome. Klinfelter’s syndrome is a genetic condition affecting males, and it often isn’t diagnosed until adulthood.
Klinefelter syndrome (sometimes called klinefelter’s KS or XXY) is where boys and men are born with an extra X chromosome. Chromosomes are packages of genes found in every cell in the body. There are 2 type of chromosome called the sex chromosomes that determine the genetic sex of a baby.
Humans have 46 chromosomes which contain all of a person’s genes and DNA. Two of these chromosomes the sex chromosomes determines a person gender. Both of the sex chromosomes in females are called X chromosomes (This is written as XX). Meles have an X and a chromosomes (written as XY). The two sex chromosomes help a person developed fertility and the sexual characteristic of their gender.
Causes of klinefelter syndrome:
Klinefelter syndrome occurs as a result of a random error that gorgeous a male to be born with an extra sex chromosome. It isn’t an inherited, condition.
Humans have 46 chromosomes, including to sex chromosomes that determine a person’s sex. Female have two X sex chromosomes (XX). Meles have an X and a Y sex chromosomes (XY).
- 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 result in a form.
Extra copies of genes on the X chromosome can interfere with male sexual development and fertility.
Symptoms of klinefelter syndrome:
Signs and symptoms may include:
- Problems at birth such as testicals that haven’t descended into the scrotum.
- Delay in speaking.
- Slow motor development– talking longer than average to sit up crawl and walk.
- Weak muscles.
Boys and teenagers:
- Weak bones.
- Low energy levels.
- Tendency to be shy and sensitive.
- Difficulty expressing thoughts and feelings or socializing.
- Problems with reading, writing, spelling, of math.
- Small firm testicles.
- Small penis.
- After puberty less muscles, and less facial and body hair compared with other teens.
- Absent, delayed or incomplete puberty.
- Decreased facial and body hair.
- Less muscular compared with other man.
- Enlarge breast tissue.
- Increased belly fat.
- Low sex drive.
- Taller than average height.
- Small testicles and penis.
- Low sperm count or no sperm.
- Weak bones (osteoporosis).
- Heart and blood vessels disease.
- Breast cancer and certain other cancer.
- Metabolic syndrome which includes type 2 diabetes, high blood pressure, (hypertension), and high cholesterol and triglycerides, (hyperlipidemia).
- Lung disease.
- Anxiety and depression.
- Social, emotional, and behavioural problems, such as low self-esteem emotional, immaturity, and impulsiveness.
- Infertility and problems with sexual function.
- Autoimmune disorders such as lupus and rheumatoid arthritis.
- Tooth and oral problems that make dental cavities more likely.
- Autism spectrum disorder.
A number of complications caused by klinefelter syndrome are related to low testosterone (hypogonadism). Testosterone replacement therapy reduce the risk of certain health problems, specially when therapy is started at the beginning of puberty.
Klinefelter syndrome stems from a random genetic event. The risk of klinefelter isn’t increased by anything a parent does or doesn’t do. For older mothers the risk is higher but only slightly.
Klinefelter syndrome diagnosis:
The chromosome analysis look at a number of cells usually at least 20 which allows for the diagnosis of genetic conditions in both the full and mosaic state. In some cases low level mosaicism may be missed. However, if mosaicism is suspected (based on hormone levels sperm counts, aur physical characteristic) additional cells can be analysed from within the same blood draw.
A chromosomal analysis (Karyotype) is used to confirm the diagnosis in this procedure a small blood sample is drawn white blood cells are then separated from the sample mixed with tissues culture medium incubated and checked for chromosomal abnormalities such as an extra X chromosomes.
- Chromosome analysis: As called karyotype analysis, this blood test looks at your chromosome.
- Hormone tests: These check hormone levels in your blood or urine.
Treatment of klinefelter syndrome:
One common treatment is testosterone replacement therapy. It can start at puberty and can spur typical body change. Such as facial hair and deeper voice. It can also help with penis size and stronger muscles and bones but it won’t affect testicle size or fertility,
Testosterone replacement therapy throughout your life can help prevent some of the long term problems that come with klinefelter syndrome.
Other treatments include:
- Support in school to help with social skills and learning delays.
- Plastic surgery to reduce breast size.
- Speech therapy for children.
- Counselling and support for mental health issues.
- Fertility treatment (in some cases using your own sperm to father and child).
- Occupational therapy and physical therapy to help with co-ordination and build muscles.
If you children has klinefelter, things that might help include:
- Playing sports and other physical activities to build muscles.
- Taking part in group activities to learn Social skills.
I hope that you liked this article……!!
By GS India Nursing, Lucknow, India….….!!