Klinefelter syndrome is a common genetic disorder that only occurs in men. The human body is made up of cells. In each cell, there is a group of genes called chromosomes. There are two chromosomes that determine the sex of the babies who will come into the world. These chromosomes are called the X and Y chromosomes. Normally, babies born as girls have two X chromosomes, and this condition is called XX. Male babies, on the other hand, have 1 X 1 Y chromosome and are called XY. Boys born with Klinefelter syndrome, on the other hand, have an extra X chromosome and are called XXY.
Patients with Klinefelter syndrome have one or more X chromosomes, and 80-90% of patients have an XXY sequence. Some people have XY and XXY together(mosaic Klinefelter), while some patients may have XXXY/XXYY/XXXXY sequences. Klinefelter syndrome occurs in one in every 500-1000 boys Dec. But because some people experience mild discomfort, it is believed that not all patients can be diagnosed. In the final analysis, Klinefelter syndrome comes to the fore as the most common chromosome-related problem in newborns.
Causes of Klinefelter Syndrome
Klinefelter syndrome does not show direct hereditary transmission. In other words, there is an extra X chromosome in the mother's egg or in the father's sperm, and the discomfort has occurred because of this, but this does not mean that every child who will be born will have the same problem. Because it happens randomly that the child is born with Klinefelter syndrome. In fact, the probability that this event will happen again in the next child is quite low. An exceptional case occurs as follows. If the mother is older than 35 years and has a son with Klinefelter syndrome, the risk is slightly higher.
Symptoms of Klinefelter Syndrome
In Klinefelter syndrome, the symptoms can vary from person to person. Some people do not have any symptoms related to the disease, or the symptoms that appear are very mild. For this reason, these people may not even know that they have this genetic difference.
Whether symptoms appear or not is closely related to a large number of elements, including the amount of testosterone production, whether a person carries a mosaic version. In the event of the appearance of symptoms, the following changes may attract attention:
* Being born with a small penis,
* Interfilite, i.e. infertility,
* Coming to life with the problem of Hypospadias, also known as the Sunnah of the prophet among the people Decently. In this problem, the urine and sperm duct outlet is located on the underside of the penis head, not at the tip,
* Being born with undescended testicle problem,
* Late start of speech in childhood,
* Learning difficulties,
* Attention deficit hyperactivity disorder,
* Delay in puberty,
* Gynecomastia, that is, breast enlargement, during puberty or adulthood,
* Low hair growth in areas such as beard, sexual organs that attract attention during puberty and throughout the body,
* Unusual body differences such as the upper body being short, the legs being longer than normal, the shoulders not being wider than the hips as in the general male structure,
* Being extremely tall,
* Social, psychological and behavioral problems.
Each cell has more than one X chromosome (XXXY, etc.), people with Klinefelter syndrome have different symptoms. These symptoms include intellectual disability, abnormal disorders in the skeletal structure, very severe speech difficulties, heart and dental problems, distinctive facial features, behavioral problems, weakness in Decoordination ability.
Klinefelter Syndrome Treatment
Klinefelter syndrome is a genetic disorder that exists from birth. Since the disease is located in the genetic codes, there is no exact cure. On the other hand, the problems caused by the disease can be treated and the person can be relieved. These treatments are as follows;
* Speech and language therapy against speech disorder,
* A person's sexual desire can be increased by treating low testosterone with drugs containing testosterone,
* The amount of hair on the body increases, November muscles can be strengthened,
* Support at school against learning disabilities,
* Specialist support and treatment for psychological problems,
* Infertility treatment,
* Breast reduction surgery,
*Osteoporosis treatment against bone resorption.
If You Have Klinefelter Syndrome…
People with Klinefelter syndrome have a slightly higher risk of developing certain health problems. These diseases are listed as follows:
* Type 2 diabetes,
* Sexual function problems,
* Problems related to cardiovascular health,
* Underwork of the thyroid glands,
* Problems with dental health,
* Breast cancer and some other cancers,
* The problem of metabolic syndrome,
* Autism spectrum disorder,
* Lung diseases
* Osteoporosis, that is, the bone structure is more fragile,
* Lupus-like problems of autoimmune origin, that is, problems in which the immune system damages its own body by attacking it.