What is Klinefelter’s syndrome?
Klinefelter’s syndrome is a chromosomal condition that is also known as “XXY Males” or “47, XXY Males”. It’s referred to as such because it’s a condition wherein human males have an extra X chromosome. Normally, a male chromosomal makeup is XY. Due to the additional X chromosome, affected individuals have two X and a Y chromosome pattern.
Klinefelter’s syndrome Pictures:
Klinefelter’s syndrome is the most common sex chromosome disorder affecting humans, particularly males. It’s also the second most common condition caused by the presence of another chromosome. The condition affects roughly about 1 out of every 1,000 males. Other mammals were also reported to have this kind of condition, including mice.
Klinefelter’s syndrome is named after Dr. Henry Klinefelter who first described the symptoms associated with this condition. Though all men with this condition have an extra X chromosome, not all of them exhibit the symptoms associated with it.
Klinefelter’s syndrome Signs And Symptoms:
Signs and symptoms of Klinefelter’s syndrome include reduced fertility, some degree of language learning impairment, as well as deficits in executive functions. Adult males with this condition can show little to no signs of a lanky, youthful build and facial appearance, or a rounded body type with some degree of gynecomastia, which is an increase in breast tissue. Hypogonadism in Klinefelter’s syndrome is often misinterpreted to mean ‘‘small testicles’’ when really it is a decrease in the function of the testicular hormone. But despite of the misinterpretation, it is true that affected individuals exhibit small testicles or microorchidism.
This condition affects three main areas of development, physical, language, and social. As babies, many males with an X chromosome disorder have weak muscles. Once they reach puberty, they may not produce as much testosterone as other boys. This could lead to less facial and body hair, broader hips, not toned enough muscles, and even larger breasts tissue. When they become adults, they are more at risk of having certain health problems such as autoimmune disorders, breast cancer, vein diseases, osteoporosis, and tooth decay. They can have a normal sex life, but they can’t make enough sperm count making them infertile. When it comes to language, they could have a problem using it as a means of expressing themselves. They could exhibit difficulties in reading and processing what they hear. Males with this condition often find themselves having self-esteem issues. They tend to be quiet and shy so they have trouble fitting in.
Klinefelter’s syndrome Causes:
Klinefelter’s syndrome not inherited. It occurs as a random event during the formation of reproductive cells. Nondisjunction, an error in cell division, happens resulting to one or more extra copies of the X chromosome. Basically, it has something to do with an error in cell formation during the fetal development.
Klinefelter’s syndrome Diagnosis:
Karyotyping is usually done to diagnose this condition. It’s a procedure wherein a small amount of blood is withdrawn and used as a sample. Afterwards, white blood cells are separated from the sample to be mixed with a special tissue culture medium, incubated, and then it will be checked for any abnormalities. It can also be diagnosed prenatally through chorionic villus sampling or amniocentesis. It’s a procedure where fetal tissue is extracted and the fetal DNA is examined for any abnormalities.
Klinefelter’s syndrome Treatment And Management:
There is no cure for it per se. You can only manage the symptoms of Klinefelter’s syndrome. There are a variety of ways to treat its symptoms. Of course we have supportive treatments where the family can work together to better equip themselves with knowledge regarding the condition so they can become more understanding and patient when it comes to dealing with an affected child. The child’s teacher can also participate by breaking down tasks to make it simpler for the child to do. A variety of therapists can also help to reduce or eliminate some of the symptoms. There are speech therapists, physical, behavioral, and even mental. Getting into therapy can help boost his self-esteem. An adolescent with this condition usually has confidence issues considering the fact that his body is not ‘manly’ enough because he lacks testosterone. He could find himself isolated, insecure, and refused by girls he might like. Males with Klinefelter’s syndrome can also resort to medical treatments such as testosterone replacement therapy (TRT), which can greatly help set their testosterone levels back to normal.
Filed Under: Men's health