Early diagnosis along with the right treatment and support will help an individual to live a normal and productive life. However, most men can expect to live a long, full life. In some cases, surgery may be necessary to correct certain symptoms of Klinefelter syndrome, such as abnormal breast tissue. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). 2013 (98): 20 –30 Frequency (%) Infertility (adults) Small testes Azoospermia (adults) 91-99 >95 >95 Learning disabilities (children) Klinefelter syndrome is a genetic condition that occurs when a boy is born with an extra copy of the X chromosome. The syndrome can affect boys and men at different stages of life and their physical, language, and social development. This is a significant treatment for the affected. Treatment with androgens reduces gynecomastia and evidence of male hypogonadism and increases strength and libido in patients with all variants of Klinefelter syndrome. Klinefelter syndrome is a fairly common genetic condition found in males only.. We are a subspecialty program, which means that we do not offer routine primary care but instead we offer our patients a comprehensive evaluation, specific to the needs of people with Klinefelter syndrome. It was clinically described for the first time by Kleinfelter in 1942. The team may include endocrinologists, general practitioners, pediatricians, urologists, speech therapists, genetic counselors, and psychologists. The following are the proposed remedies of the syndrome: Androgen therapy. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. https://patient.info/mens-health/klinefelters-syndrome-leaflet Off Label. The MassGeneral Hospital for Children Klinefelter Syndrome clinic takes a multidisciplinary approach to providing quality, coordinated care to individuals living with Klinefelter syndrome. Klinefelter syndrome treatment with homeopathy is also prominent for treating secondary symptoms. Treatment can help males overcome many of the physical, social, and learning problems associated with the syndrome. Many boys with Klinefelter syndrome — also known as XXY syndrome — have no signs or symptoms, and some don't even know they have it until later in life.. This page of the eMedTV library discusses these options along with other possible treatments for Klinefelter syndrome, with links to additional information. Clinical Features of Klinefelter Syndrome Groth K et al. Klinefelter syndrome is a genetic condition that affects males physical, behavioral, and cognitive development and functioning. In 1942, Klinefelter et al published a report describing nine men with a constellation of features: testicular dysgenesis, microorchidism, eunuchoidism, gynecomastia, elevated urinary gonadotropins, and azoospermia. Intellig In a few of these individuals, sperm obtained from the testes have successfully fertilized oocytes in vitro. OTC. Since there are low levels of testoterone in Klinefelter syndrome, the number one treatment suggested is testosterone replacement therapy to prevent the severe lifelong effects of the disorder. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. Mild cases of Klinefelter syndrome may require no treatment. This treatment should begin at puberty or as soon after as possible. The following list of medications are in some way related to, or used in the treatment of this condition. The primary features are infertility and small poorly functioning testicles. [] The etiology was thought to be due to an endocrine disorder of unknown cause, until 1959, when Jacobs et al recognized that Klinefelter syndrome was a … Klinefelter syndrome can be diagnosed through genetic testing, semen analysis and blood tests to measure hormones. Klinefelter syndrome is a congenital (present at birth) condition that affects about 1 in 1,000 men. Select drug class All drug classes androgens and anabolic steroids (1) Rx. Treatment of Klinefelter syndrome may include: Genetic counseling to discuss long-term complications Special education programs (including speech therapy, occupational therapy, or other therapies) J Clin EndocrinolFeaturesMetab. Males with Klinefelter syndrome should be seen by a team of health care providers. Klinefelter disease is characterized by the presence of at least one extra X chromosome in boys, which leads to impaired puberty in them. Materials and methods: A total of 91 microdissection testicular sperm extraction attempts were done in 68 men with nonmosaic Klinefelter's syndrome. What Is Klinefelter Syndrome? Klinefelter syndrome occurs if boys are born with an extra X chromosome. Treatment One of the hallmarks of Klinefelter syndrome is hypergonadotropic hypogonadism, a condition that results in testosterone deficiency. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex. Often it is only at puberty that these symptoms are noticed. Often, symptoms are subtle and subjects do not realize they are affected. The therapy is initiated at the time of puberty to enable the body to change normally as it should. Some treatments for the symptoms of Klinefelter syndrome can include: Hormone replacement. Klinefelter syndrome is a chromosomal disorder that occurs when a male is born with an additional X chromosome. Men with Klinefelter syndrome can now have children, if they want, with new forms of in-vitro fertilisation. Klinefelter syndrome is a genetic disorder caused by the acquirement of an extra X chromosome in males (XXY instead of XY). Although there's no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help minimize its effe… While Klinefelter syndrome cannot be cured, some of its symptoms can be improved by testosterone replacement therapy, which restores testosterone levels to normal range. Treatment typically involves physical and emotional therapy, as well as hormone replacement. This shall replace what the patient is lacking and require at the time of puberty. Other treatments for Klinefelter syndrome include: speech and language therapy physical therapy to improve muscle strength occupational therapy to help you function day to … Men with serum testosterone less than 300 ng/dl received medical therapy with aromatase inhibitors, clomiphene or human chorionic gonadotropin before microdissection testicular sperm extraction. Testosterone therapy can help with many of the symptoms of Klinefelter syndrome. Klinefelter syndrome can shorten a male’s life expectancy up to two years. Testosterone replacement therapy improves, strength, body hair growth, … Klinefelter syndrome (KS) is a genetic condition in which boys are born with an extra copy of the X chromosome (piece of genetic material). People with Klinefelter syndrome can experience breast growth, breast cancer, osteoporosis, infertility and learning difficulties. Treatment is usually in the form of an injection, pills, gel, or a patch. With treatment, men can lead very normal lives. Management of Klinefelter Syndrome: The management of Klinefelter syndrome in the Allopathy medicine system is done with Psychological counseling, Fertility treatment, Breast tissue removal, and Testosterone replacement therapy. Our doctors work with patients’ primary care providers to identify specialty needs, to coordinate care, and to improve outc… Testosterone replacement therapy: Since males with Klinefelter syndrome don't produce enough testosterone, undergoing testosterone replacement therapy at the onset of puberty can allow a … Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel. Klinefelter syndrome is quite common, affec… Klinefelter syndrome treatment. Klinefelter syndrome, 47, XXY is a clinical example of sex chromosome lesions. Klinefelter syndrome can often be managed through regular checkups, medications, and counseling. Treatments Treatment with testosterone and/or a medicine to prevent excess estrogen production may be given to help normalize secondary sexual development and improve libido, strength, mood and thinking. Normally the cells in men's bodies have a single X chromosome along with a Y chromosome, while women's cells have two X chromosomes. If treatment is needed, it’s recommended that they begin as early as possible, preferably during puberty or childhood. Surgery may be needed to reduce breast size. However, most men can expect to live a long, full life. Therapy. The population frequency is 1: 1000 males. Treatment Options for Klinefelter Syndrome . Early intervention can prevent some symptoms from occurring. Males with Klinefelter syndrome should be seen by a team of health care providers. If you or your son is diagnosed with Klinefelter syndrome, your health care team may include a doctor who specializes in diagnosing and treating disorders involving the body's glands and hormones (endocrinologist), a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or infertility specialist, and a counselor or psychologist. Appointments & Access. 47, XXY is the most common of the X and Y variants and approximately, 1 in 500 males has an extra copy of the X chromosome. Drugs used to treat Klinefelter Syndrome. A person with KS has 47 chromosomes inside their cells instead of the usual 46. What is the treatment for Klinefelter syndrome? About Klinefelter Syndrome Klinefelter Syndrome (KS) is a condition that occurs in men who have one or more extra X chromosomes. Androgen therapy (types of testosterone) is the most common form of treatment for Klinefelter syndrome and can have a number of positive effects, including improving sex drive, promoting hair growth, increasing muscle strength and energy levels, and reducing the likelihood of osteoporosis. KS is also called 47, XXY. Boys and men with Klinefelter syndrome are still genetically male and often will not realize they have this extra X chromosome (47, XXY), but occasionally it can cause problems that may require treatment, problems such as a small penis, small testes and infertility. This results in stunted puberty, smaller than average genitals, and the development of breasts and infertility. But this type of treatment is not suitable because surgery causes greater pain and also costs higher. Clinical findings are nonspecific during childhood; thus, the diagnosis commonly is … Klinefelter syndrome is caused by an additional X chromosome in males (47,XXY). 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