KLINEFELTER’S SYNDROME By: Hanna Conroy & Sarah Denobriga

Description Klinefelter’s syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter’s syndrome adversely affects testicular growth, and this can result in smaller than normal testicles. This can lead to lower production of the sex hormone testosterone. Klinefelter’s syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter’s syndrome vary, and not everyone with it develops signs and symptoms. Klinefelter syndrome often isn’t diagnosed until adulthood.

Symptoms Babies Boys & Teenagers Weak muscles Slow motor development Delay in speaking Quiet, docile personality Problems at birth, such as testicles that haven’t descended into the scrotum Taller than average Absent, delayed or incomplete puberty Small, firm testicles Enlarged breast tissue Weak bones Low energy levels Shyness Difficulty expressing feelings Problems with learning Attention problems

Continued… MEN Infertility Small testicles and penis Taller than average Weak bones Decreased facial and body hair Enlarged breast issue Decreased sex drive or sexual problems

Causes Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. Of the 46 human chromosomes, the two sex chromosomes determine a person’s gender. In females, both sex chromosomes are X (written as XX).Males have an X and a Y sex chromosome (XY). Most often, Klinefelter syndrome occurs because of one extra copy of the X chromosome in each cell (XXY). Extra copies of the genes on the X chromosome can interfere with male sexual development and fertility. Rarely, a more severe form of Klinefelter can occur if a male has more than one extra copy of the X chromosome.

Continued… Klinefelter syndrome isn’t an inherited condition. Rather, the additional sex chromosome results from a random error during the formation of the egg or sperm or after conception.

Detection Klinefelter syndrome usually is not diagnosed until the time of puberty. At this point, the boy's testicles fail to grow normally and you may start to notice other symptoms. Klinefelter syndrome can be detected before birth (prenatally) through genetic tests on cells collected from amniocentesis or chorionic villus sampling (CVS). But this is not routinely done. In adult men, lab tests in addition to a karotype may be done, such as hormone tests or a semen analysis, if Klinefelter syndrome is suspected.

Does my son have this BD? Slow development during infancy or boyhood. If your son seems to be developing more slowly than other boys are, see your son’s doctor. Some variation in physical and mental development is normal. It’s best to check with a doctor if you have any concerns. Delays in growth and development can be the first sign of a number of conditions that need treatment– including Klinefelter syndrome.

Continued… If your son does have Klinefelter syndrome, early treatment, including speech therapy, can help prevent or minimize problems.

Complications of Klinefelter Syndrome Increased risk of certain birth defects, including curved fifth fingers and cleft palate Delayed puberty Noticeable physical features, such as sparse facial and body hair, unusually long legs and arms, lack of muscular development, and enlarged breast tissue Learning disabilities, attention problems or social development issues Infertility Weak bones

Continued… Increased risk of varicose veins and other problems with blood vessels Increased risk of breast cancer and cancers of the blood, bone marrow or lymph nodes Increased risk of lung diseases, such as chronic bronchitis Increased risk of autoimmune disorders, such as type 1 diabetes and lupus Increased belly fat, which can lead to other health problems Problems with sexual funtion

Treatments & Drugs

Testosterone Replacement Therapy Males with Klinefelter syndrome don’t produce enough of the male hormone testosterone, and this can have lifelong effects. Starting at the time of the usual onset of puberty, testosterone replacement can help treat or prevent a number of problems Testosterone may be given as injections or with a gel or patch on the skin. Testosterone replacement therapy allows a boy to undergo the body changes that normally occurs at puberty, such as developing a deeper voice, growing facial and body hair, and increasing muscle mass and penis size. Testosterone therapy also can help reduce growth of breast tissue, improve bone density and reduce the risk of fractures. It will not result in testicle enlargement or improve infertility.

Breast Tissue Removal In males who develop enlarged breasts (gynecomastia), excess breast tissue can be removed by a plastic surgeon, leaving a normal-looing chest.

Speech and Physical Therapy These treatments can help boys with Klinefelter syndrome overcome problems with speech, language and muscle weakness. Some boys with Klinefelter syndrome have trouble learning and can benefit from extra assistance. Talk to your child’s teacher, school counselor or school nurse what kind of support might help.

Fertility Treatment Most men with Klinefelter syndrome are unable to father children, because no sperm are produced in the testicles. Some men with Klinefelter syndrome may have some minimal sperm production. One option that may benefit these men is a procedure called intracytoplasmic sperm injection (ICSI), in which sperm is removed from the testicle with a biopsy needle and injected directly into the egg. Other alternatives for having children include adoption and artificial insemination with donor sperm.

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 you work through emotional issues.

Precautions to Take A small percentage of males with Klinefelter syndrome are diagnosed before birth. This might happen if a pregnant woman has a procedure to examine fetal cells drawn from the amniotic fluid (amniocentesis) or placenta (chorionic villus sampling). Most women who have these procedures are older than age 35 or have a family history of genetic conditions. Take a few steps to make sure you make the best of the doctor visit: Write down detailed notes about any symptoms. Make a list of all medications, as well as any vitamins or supplements that you (or your son) are taking. Preparing a list of questions can help make the most of your appointment.

Continued… You might want to ask the following questions: What tests are needed to confirm my (or my son's) diagnosis or see if the symptoms are caused by something else? What treatments are necessary? What are the side effects and expected results of treatment? Are there any brochures or other printed material that I can take with me? What websites do you recommend? In addition to the questions that you've prepared, don't hesitate to ask questions during your appointment.

Continued… It’s also a good idea to get your son tested for signs of Klinefelter Syndrome. 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. The doctor may take samples to be evaluated in the lab. Chromosome analysis. Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. It's usually done by taking a blood sample for laboratory examination to check the shape and number of chromosomes.

How Common it is Klinefelter’s syndrome is one of the most common genetic conditions affecting males. Klinefelter syndrome affects 1 in 500 to 1,000 new born males. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Researchers suspect that Klinefelter syndrome is under- diagnosed because the condition may not be identified in people with mild signs and symptoms. Additionally, the features of the condition vary and overlap significantly with those of other conditions.

Sources http://www.mayoclinic.com/health/klinefelter-syndrome/DS01057 http://www.mayoclinic.com/health/klinefelter- syndrome/DS01057/DSECTION=symptoms http://www.mayoclinic.com/health/klinefelter- syndrome/DS01057/DSECTION=causes http://www.mayoclinic.com/health/klinefelter- syndrome/DS01057/DSECTION=complications http://www.mayoclinic.com/health/klinefelter- syndrome/DS01057/DSECTION=preparing-for-your-appointment http://www.mayoclinic.com/health/klinefelter- syndrome/DS01057/DSECTION=tests-and-diagnosis http://www.mayoclinic.com/health/klinefelter- syndrome/DS01057/DSECTION=treatments-and-drugs http://www.mayoclinic.com/health/klinefelter- syndrome/DS01057/DSECTION=coping-and-support