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Klinefelter syndrome is a genetic disorder in which a baby is born with an extra X chromosome. It affects only males and is named after Dr Kleinfelter, who first described the condition. Syndrome means having many complications or symptoms. Klinefelter’s syndrome develops due to a mutation in the number of sex chromosomes. These individuals have male hypogonadism, meaning two or more X chromosomes, more commonly 47XXY. Alternate Name of Klinefelter Syndrome 47XXY syndrome Klinefelter syndrome (KS) XXY syndrome XXY trisomy Klinefelter Syndrome Causes This is a chromosomal anomaly, which means there is an extra copy of the X chromosome in the body. The extra X chromosome means that their bodies develop slightly differently. Most commonly, instead of their chromosomes being 46XY, they are 47XXY Unlike other genetic conditions, it is not directly inherited from the parents. Older mothers or fathers may be slightly more likely to have an affected son. Klinefelter Syndrome Symptoms Some boys and adults have very few noticeable symptoms. Many people with the syndrome will go through life without ever being diagnosed. However, the lower levels of testosterone and the extra chromosome can lead to some of the following features: Tall stature. Being taller than expected and with slight changes to body shape Small, firm testicles Breast development or gynecomastia (more breast tissue) Because the testes do not function properly, they produce less testosterone. Infertility or sometimes reduced fertility. Lower muscle tone and strength. Less facial and body hair. Low mood and anxiety make social interactions difficult. Low energy levels. Difficulty in using cognitive skills in daily life, such as planning, focusing attention and juggling tasks. Changes in behaviour and learning, such as language development difficulties. Apart from these features, men with this Klinefelter syndrome also have a slightly increased risk of developing other long-term health problems, including: Weak bones Type 2 diabetes Heart disease Blood clots Autoimmune disorders Dental problems Increased risk of male breast cancer. This may seem like a long list, but the condition is variable, and most will experience few problems. Klinefelter Syndrome Diagnosis Infertility screening. Blood analysis for hormones shows an increased level of follicle-stimulating hormone, decreased testosterone, increased luteinising hormone, and increased estrogen. Sperm count test to determine male fertility. A Karyotype blood test in adults helps to check the extra chromosome number and the visual appearance of the chromosomes in the cell nuclei. Comparative genomic hybridisation: CGH (comparison genomic hybridisation) detects chromosomal changes. Klinefelter Syndrome Treatment There is no cure for Klinefelter syndrome. Therapy Testosterone replacement therapy is effective for treating some symptoms. This is usually not required until after puberty, and it can be provided in various ways, such as gels, tablets, or injections. Other possible interventions include speech therapy, physiotherapy, occupational therapy, educational and behavioural support at school, and psychological support. There are now fertility treatments that may help some to become a father. Increasingly, multidisciplinary clinics are bringing these wide-ranging services together. Surgery Surgery is used to remove excess breast tissue. Surgery can improve an individual's self-image and confidence and is usually postponed until adulthood. It is important to remember that most people with Klinefelter syndrome will lead normal, healthy lives. However, it can be upsetting and confusing to first learn about new conditions. Risk Factor of Klinefelter Syndrome There is a slightly increased risk with advanced maternal age. Women over 35 are slightly more likely than younger women to have offspring with this condition. Offspring of Klinefelter syndrome individuals carry a slightly increased risk of chromosomal abnormalities. Possible Complications of Klinefelter Syndrome Many of Klinefelter's difficulties are caused by low testosterone levels. Autoimmune disorders like lupus and rheumatoid arthritis, in which the immune system attacks healthy components of the body Diabetes Male breast cancer Osteoporosis Heart disease and blood vessel disorders Anxiety and depression may be more prevalent in people suffering from Klinefelter syndrome. Social, emotional, and behavioural disorders include low self-esteem, emotional immaturity, and impulsiveness. Infertility and sexual function issues. Klinefelter Syndrome Preventions Unfortunately, Klinefelter syndrome is a hereditary disorder that cannot be avoided. It is caused by a random error in the genetic code that occurs before birth. This issue does not run in families (it is not inherited), and there is nothing a parent can do to prevent it. If you suspect Klinefelter’s syndrome, visit a physician to diagnose and treat the syndrome. Treatment can help, and support can reduce the chance of problems developing. Epidemiology of Klinefelter Syndrome Klinefelter syndrome is a genetic disease and is fairly common. This condition is seen in about 1 in 650 live births, but many men (70 to 80%) likely do not know they have this condition. This syndrome affects only males. Expected Prognosis of Klinefelter Syndrome Babies with Klinefelter 47XXY differ little from healthy children. The majority of XXY newborns had normal external genitalia and facial features, as well as normal height and weight. Due to a delay in walking and/or talking, genetic testing would have been undertaken. Treatment can assist boys and men with the condition to lead happy and healthy lives. Natural Progression of Klinefelter Syndrome Klinefelter syndrome does not affect life expectancy. However, according to some studies, people who have it may have a year or two less life expectancy than those who do not because of various health issues. Pathophysiology of Klinefelter Syndrome The syndrome happens due to maternal or paternal nondisjunction during meiosis. An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. Fertile Klinefelter syndrome patients have a low recurrence of this syndrome in their offspring, but the offspring do carry a very small increased risk of chromosomal abnormalities. Meiotic nondisjunction of sex chromosomes during gametogenesis.

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