Klinefelter Syndrome
Klinefelter syndrome (KS) is a genetic condition where there’s an extra X chromosome present in a male’s genetic code. Instead of having a total of 46 chromosomes, they have 47 — with two copies of the X chromosome and one copy of the Y chromosome (47,XXY). It is fairly common, happening in about 1 in 600 males, but many men (some say 70 to 80%) likely do not know they have this condition.
Symptoms
Signs and symptoms of Klinefelter syndrome vary widely among males with the disorder.
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
Causes –
Everyone is born with 23 pairs of chromosomes, or 46 chromosomes in total, inside each of their cells. These include two sex chromosomes, X and Y.
• People who are born female have two X chromosomes, XX. These chromosomes give them sexual traits like breasts and a uterus.
• People who are born male have one X and one Y chromosome, XY. These chromosomes give them traits such as a penis and testicles.
People with Klinefelter syndrome are born with an extra X, causing their cells to have XXY chromosomes. This happens randomly during conception. About half the time the extra chromosome starts in the mother’s egg. The other half of the time it comes from the father’s sperm.
Some people with the syndrome have more than one extra X chromosome. For example, their chromosome might look like this: XXXXY. Others have different chromosome abnormalities in each cell. For example, some cells might be XY, while others are XXY. This is called mosaicism.
Risk Factors –
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.
Complications –
• 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
Diagnosis –
The main test used to diagnose Klinefelter syndrome is –
• Chromosome analysis.
Also called karyotyping, this blood test checks for abnormal chromosomes, such as an extra X chromosome.
Treatment –
Mild symptoms often don’t need to be treated. Males with more obvious symptoms are often encouraged to start treatment as early as possible, preferably during puberty. Starting treatment early can prevent some of the symptoms.
One of the main treatments is testosterone replacement therapy.
You can take testosterone as a pill, patch, or cream. Or you can get it by injection every 2 to 3 weeks.
Other treatments for Klinefelter syndrome include:
• speech and language therapy
• physical therapy to improve muscle strength
• occupational therapy to help you function day to day at school, work, and in your social life
• behavioral therapy to help gain social skills
• educational assistance
• counseling to deal with emotional issues like depression and low self-esteem that could stem from the condition
• surgery (mastectomy) to remove extra breast tissue
• fertility treatments
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