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Klinefelter syndrome, one of the most common genetic causes of male infertility (infertility), is a common condition and often undiagnosed until adulthood. In this article, all the answers of your questions about Klinefelter syndrome is compiled for you.
“What is Klinefelter syndrome?” Before answering the question, it is useful to remember the basic genetic information. Everything from your height to your hair color is determined by the information contained in the genes. Genes are like a library where all the codes necessary for your body to look and work are stored. Genes are packed in structures called chromosomes. A pair of chromosomes, called sex chromosomes, determine whether the person will be female or male.
When a healthy individual has two X chromosomes (XX), female traits occur when one X and one Y chromosomes (XY) are present. In rare cases, however, a man is born with an extra X chromosome (XXY). This condition is called Klinefelter syndrome.
“What is Klinefelter or what does it mean?” The answer to the question is; Klinefelter is the doctor’s surname that first described this disease in 1942. The doctor described the appearance features of the disease in an article he wrote and stated that men with this syndrome synthesize an increased amount of FSH hormone.
Klinefelter syndrome can negatively affect testicular growth, leading to smaller development of the testicles, which can lead to decreased testosterone production. The syndrome can also cause decreased muscle mass, body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome are variable and not everyone has the same signs and symptoms. Klinefelter syndrome can occur in every 500-600 male baby births.
• Signs and symptoms of Klinefelter syndrome vary widely among men with this syndrome. Many boys with Klinefelter syndrome have few obvious signs, and this may not be diagnosed until adulthood. For others, this syndrome has a noticeable effect on growth or appearance. Signs and symptoms of Klinefelter syndrome also vary with age.
Some signs and symptoms in infants may include:
• Weak muscles
• Slow motor development (develops later than sitting, crawling and walking peers)
• Delay in speech
• Quiet, docile personality
• Problems at birth, such as testicles that have not descended into the scrotum
Signs and symptoms in teens can include:
• Being taller than average height
• Having longer legs, shorter body and wider hips compared to other men
• Delayed or incomplete puberty
• Less muscle, less facial and body hair development after adolescence than other young people
• Small, tight testicles
• Small penis
• Enlarged breast tissue (gynecomastia)
• Weak bones
• Low energy level
• Tends to be shy and sensitive
• Difficulty expressing thoughts and feelings or socializing
• Difficulty in reading, writing, spelling or math problems
Symptoms observed in adult men are as follows:
• Low sperm count or no sperm at all
• Small testicles and penis
• Low libido
• Being taller than average height
• Weak bones
• Decreased facial and body hair
• Less muscular than normal
• Enlarged breast tissue
• Increased belly fat
Klinefelter males often look normal, only a few have mental retardation.
Klinefelter syndrome is caused by a random genetic error. The risk of Klinefelter syndrome does not increase according to parents’ attitudes or living standards. As mothers grow older, the probability of having Klinefelter syndrome in the child may increase slightly.
Types of Klinefelter syndrome are divided into 3:
• Classical Type Klinefelter Syndrome: The most frequently observed Klinefelter type is the condition that the X chromosome, which is called classical and is observed in 80% of patients, has an extra copy in each cell.
• Mosaic Type Klinefelter Syndrome: The state of mosaic Klinefelter syndrome, which is observed in approximately 20% of patients and that only some cells have extra X chromosomes. Symptoms of this type are milder and less pronounced.
• Barr-Shaver-Carr syndrome: Very rarely, multiple extra X chromosomes can be observed in Klinefelter syndromes. In such cases, symptoms manifest more seriously.
Klinefelter syndrome may increase the risk of the following diseases:
• Anxiety and depression
• Infertility and sexual function problems
• Weak bones (osteoporosis)
• Heart and blood vessel disease
• Breast cancer and some other cancers
• Lung disease
• Endocrine disorders such as diabetes and hypothyroidism
• Autoimmune disorders such as lupus and rheumatoid arthritis
• Some dental problems such as easier bruising
A number of complications caused by Klinefelter syndrome are associated with low testosterone (hypogonadism). Testosterone replacement therapy reduces the risk of certain health problems, especially when starting treatment at puberty.
For the diagnosis, a specialist doctor conducts a detailed physical examination, asks detailed questions about the symptoms and general health. The main tests used to diagnose Klinefelter syndrome can be listed as follows:
• Hormone test: Blood or urine samples can reveal abnormal hormone levels that are symptoms of Klinefelter syndrome.
• Chromosome analysis: This test, also called karyotype analysis, is used to confirm the diagnosis of Klinefelter syndrome. A blood sample is sent to the lab to check the shape and number of the chromosome. Chromosomes from blood cells (white blood cells) are observed and counted with the aid of a microscope.
A small percentage of men with Klinefelter syndrome are diagnosed before birth. Generally, mothers over 35 years of age or individuals with a hereditary disease in the family can be tested for genetic diseases because they carry a higher risk. During this test, fetal cells taken from amniotic fluid (amniocentesis) or placenta are examined and subjected to genetic tests.
If you or your family are diagnosed with Klinefelter syndrome, your healthcare team will: an endocrinologist specializing in the glands and hormones of the body, reproductive or infertility specialist, can include a group of doctors, including a genetic counselor. Doctors such as speech therapist, pediatrician, physiotherapist, also join this team in diagnoses made at infant age.
Treatment of Klinefelter syndrome, cannot correct changes in the sex chromosome. Treatments can help minimize the effects of this extra X chromosome. The earlier the diagnosis is made and the treatment begins, the greater the benefit. However, it is never too late to get help.
Infertility treatment: Most men with Klinefelter syndrome are infertile because a small amount of sperm is produced in the testicles or not at all. For some men with minimal sperm production, a procedure called intracytoplasmic sperm injection (ICSI) may work. During ICSI, sperm is removed from the testicle with a biopsy needle and injected directly into the egg. You can read the article about this treatment for more information.
Psychological counseling: Having Klinefelter syndrome can be difficult, especially in adolescence and young adulthood. It can be difficult to deal with infertility for men who learn the situation later. A family therapist, counselor or psychologist can help you recover on emotional issues.
Testosterone replacement therapy: From the beginning of general puberty, testosterone replacement can be given to help stimulate changes in normal puberty, such as the development of a deeper voice, lengthening of facial and body hair, and increased muscle mass and penis size. Testosterone therapy can also increase bone density and reduce the risk of fractures. It does not cause testicular dilation or increase infertility.
Removal of developing breast tissue: In men who develop gynecomastia, excess breast tissue can be removed by a plastic surgeon, leaving a more normal-looking breast tissue.
Speech and physical therapy: These treatments can help Klinefelter boys overcome problems with speech, language and muscle weakness.
Educational assessment and support: Some children with Klinefelter syndrome have problems in learning and socializing and can benefit from extra help.
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