Klinefelter’s Syndrome

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.