Klinefelter’s Syndrome

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  • Improve bone density 
  • Reduce any breast growth
  • Prevent infertility 
  • Develop bigger muscles , deeper voice , facial & body hair

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    Overview

    Detail of Klinefelter’s Syndrome

    Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common reason is infertility.Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person's gender. Both of the sex chromosomes in females are called X chromosomes. (This is written as XX.) Males have an X and a Y chromosome (written as XY). The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender.

    Most often, Klinefelter syndrome is the result of one extra X (written as XXY). Occasionally, variations of the XXY chromosome count may occur, the most common being the XY/XXY mosaic. In this variation, some of the cells in the male's body have an additional X chromosome, and the rest have the normal XY chromosome count. The percentage of cells containing the extra chromosome varies from case to case. In some instances, XY/XXY mosaics may have enough normally functioning cells in the testes to allow them to father children.


    Science

    Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. It isn't an inherited condition.Humans have 46 chromosomes, including two sex chromosomes that determine a person's sex. Females have two X sex chromosomes (XX). Males have an X and a Y sex chromosome (XY).

    Klinefelter syndrome can be caused by:

    • One extra copy of the X chromosome in each cell (XXY), the most common cause
    • An extra X chromosome in some of the cells (mosaic Klinefelter syndrome), withfewer symptoms
    • More than one extra copy of the X chromosome, which is rare and results in asevere form

    Extra copies of genes on the X chromosome can interfere with male sexual development and fertility.


    Klinefelter syndrome stems from a random genetic event. The risk of Klinefelter syndrome isn't increased by anything a parent does or doesn't do. For older mothers, the risk is higher but only slightly.

    Klinefelter syndrome may increase the risk of:

    • Anxiety and depression
    • Social, emotional and behavioral problems, such as low self-esteem, emotional immaturity and impulsiveness
    • Infertility and problems with sexual function
    • Weak bones (osteoporosis)
    • Heart and blood vessel disease
    • Breast cancer and certain other cancers
    • Lung disease
    • Metabolic syndrome, which includes type 2 diabetes, high blood pressure (hypertension), and high cholesterol and triglycerides (hyperlipidemia)
    • Autoimmune disorders such as lupus and rheumatoid arthritis
    • Tooth and oral problems that make dental cavities more likely
    • Autism spectrum disorder

    A number of complications caused by Klinefelter syndrome are related to low testosterone (hypogonadism). Testosterone replacement therapy reduces the risk of certain health problems, especially when therapy is started at the beginning of puberty.


    Signs and symptoms of Klinefelter syndrome vary widely among males with the disorder. Many boys with Klinefelter syndrome show few or only mild signs. The condition may go undiagnosed until adulthood or it may never be diagnosed. For others, the condition has a noticeable effect on growth or appearance.

    Signs and symptoms of Klinefelter syndrome also vary by age.

    Babies

    • Signs and symptoms may include:
    • Weak muscles
    • Slow motor development — taking longer than average to sit up, crawl and walk
    • Delay in speaking
    • Problems at birth, such as testicles that haven't descended into the scrotum

    Boys and teenagers

    • Signs and symptoms may include:
    • Taller than average stature
    • Longer legs, shorter torso and broader hips compared with other boys
    • Absent, delayed or incomplete puberty
    • After puberty, less muscle and less facial and body hair compared with other teens
    • Small, firm testicles
    • Small penis
    • Enlarged breast tissue (gynecomastia)
    • Weak bones
    • Low energy levels
    • Tendency to be shy and sensitive
    • Difficulty expressing thoughts and feelings or socializing
    • Problems with reading, writing, spelling or math

    Men

    • Signs and symptoms may include:
    • Low sperm count or no sperm
    • Small testicles and penis
    • Low sex drive
    • Taller than average height
    • Weak bones
    • Decreased facial and body hair
    • Less muscular compared with other men
    • Enlarged breast tissue
    • Increased belly fat

    SIGN  :

    Males who have Klinefelter syndrome may have the following symptoms: small, firm testes, a small penis, sparse pubic, armpit and facial hair, enlarged breasts (called gynecomastia), tall stature, and abnormal body proportions (long legs, short trunk).School-age children may be diagnosed if they are referred to a doctor to evaluate learning disabilities.Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis.


    Doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. This may include examining the genital area and chest, performing tests to check reflexes, and assessing development and functioning.

    The main tests used to diagnose Klinefelter syndrome are:

    • Hormone testing. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome.
    • Chromosome analysis. Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. A blood sample is sent to the lab to check the shape and number of chromosomes.

    A small percentage of males with Klinefelter syndrome are diagnosed before birth. The syndrome might be identified in pregnancy during a procedure to examine fetal cells drawn from the amniotic fluid (amniocentesis) or placenta for another reason — such as being older than age 35 or having a family history of genetic conditions.

    Klinefelter syndrome may be suspected during a noninvasive prenatal screening blood test. To confirm the diagnosis, further invasive prenatal testing such as amniocentesis is required.


    If individual or his son is diagnosed with Klinefelter syndrome, 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.

    Although there's no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help minimize its effects. The earlier a diagnosis is made and treatment is started, the greater the benefits. But it's never too late to get help.

    Treatment for Klinefelter syndrome is based on signs and symptoms and may include:

    • Testosterone replacement therapy. Starting at the time of the usual onset of puberty, testosterone replacement therapy can be given to help stimulate changes that normally occur at puberty, such as developing a deeper voice, growing facial and body hair, and increasing muscle mass and sexual desire (libido). Testosterone replacement therapy can also improve bone density and reduce the risk of fractures, and it may improve mood and behavior. It will not improve infertility.
    • Breast tissue removal. In males who develop enlarged breasts, excess breast tissue can be removed by a plastic surgeon, leaving a more typical-looking chest.
    • Speech and physical therapy. These treatments can help boys with Klinefelter syndrome who have problems with speech, language and muscle weakness.
    • Educational evaluation and support. Some boys with Klinefelter syndrome have trouble learning and socializing and can benefit from extra assistance.  Individual can talk to child's teacher, school counselor or school nurse about what kind of support might help.
    • Fertility treatment. Most men with Klinefelter syndrome are typically unable to father children because few or no sperm are produced in the testicles. For some men with minimal sperm production, a procedure called intracytoplasmic sperm injection (ICSI) may help. During ICSI, sperm is removed from the testicle with a biopsy needle and injected directly into the egg.
    • Psychological counseling. Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. For men with the condition, coping with infertility can be difficult. A family therapist, counselor or psychologist can help work through the emotional issues.

    Breast Removal Surgery :

    Depending on personal situation, the procedure can be performed in an outpatient facility, or one may have to stay at least 1 night in the hospital. In either case, one will be given general anesthesia, which means individual will be put to sleep for the procedure. It's important to have someone with one who can drive home and stay with patient at least the first night if  not staying in the hospital.

    The surgery itself will take about 3 to 5 hours. Surgeon will make an incision around nipple, then downward on the breast, in a keyhole form. The excess skin, tissue and fat are removed, and nipple is relocated to a more youthful position and the incisions are closed. Surgeon may use drainage tubes. The incision site is then sutured, and a dressing applied; if required, one may also wear a surgical bra.


    Treatment can help boys and men with Klinefelter live happy, healthy lives. Advances in fertility treatments have made it possible for some to father children. In general, life expectancy is normal. Some research has found that life expectancy for men with the condition may be a year or two less than those without it because of other health problems linked to Klinefelter.

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    FAQ

    What Is Klinefelter Syndrome?

    Klinefelter syndrome could be a hereditary situation during which a guy is born with an additional sex chromosome. Rather than the standard XY chromosomes in men, they need XXY, thus this condition is typically referred to as XXY syndrome. Men with Klinefelter sometimes don’t recognize they need it till they run into issues attempting to own a baby. There’s no cure, however, it is treated.

    What causes Klinefelter syndrome?

    The appearance of an additional X chromosome in boys most frequently happens once the hereditary material within the egg divides inconsistently. However, it can even occur once the genetic material within the sperm cell splits inconsistently. Klinefelter's syndrome may be an inherited disorder, it's not transferred through families. So, for parents that have a kid with Klinefelter's syndrome is not anymore possible for different pair to possess another child with the condition.

    Is there any treatment?

    Many of those characteristics, however not the peak or physiological condition, is also eased by Testosterone Replacement medical care given from the time of life ahead. The level ought to be managed by the specialist. Where inadequate testosterone is present, bone density is also reduced once the body fails to get down decent metallic elements and this might produce bone sickness like pathology. For this purpose, all Klinefelter syndrome males ought to demand Bone-Density Scans a minimum of each 2 years.

    Can a man with Klinefelter syndrome have babies naturally?

    The vast majority of men with Klinefelter syndrome are infertile and can't father a child the usual way. Opportunities for enhancing natural parents are short, but fertility researchers are accomplishing on new ways.


    Who is most likely to get Klinefelter syndrome?

    Klinefelter syndrome happens in about one out of five hundred to 1,000 newborn boys. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women.


    Can Klinefelter syndrome be passed onto offspring?

    Klinefelter syndrome happens in about one out of five hundred to 1,000 newborn boys. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women.


    Are Klinefelter male or female?

    Klinefelter syndrome is a hereditary condition influencing men, and it typically is not diagnosed till adulthood.

    How does Klinefelter syndrome affect a person's life?

    For example, guys with Klinefelter syndrome might be a lot of doubtless to induce some kinds of cancer and different diseases, like-kind two polygenic disorder and pathology, a condition wherever the bones become more vulnerable later in life. As men, most guys with Klinefelter syndrome can sleep, sometimes with the assistance of androgenic hormone procedure..

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