Description

Klinefelter syndrome is a common condition that occurs when a person assigned male at birth have an extra copy of the X sex chromosomes instead of the typical XY. Klinefelter syndrome is a genetic condition that occurs before birth, but is often not diagnosed until adulthood.

Klinefelter syndrome can affect the growth of the testicles. This results in small testicles, which can lead to making less of the hormone testosterone. The syndrome may also cause less muscle mass, less body and facial hair and excess breast tissue. The effects of Klinefelter syndrome vary, and not everyone has the same symptoms.

The majority of people with Klinefelter's syndrome produce little or no sperm, but the assisted reproduction procedures can make it possible for some people with Klinefelter syndrome have biological children.

Symptoms

The symptoms of Klinefelter syndrome vary widely. Many boys with Klinefelter syndrome show few or only mild symptoms. Most often the condition is not diagnosed until puberty or adulthood, or may never be diagnosed. For others, the condition has a significant effect on the growth or appearance. Klinefelter syndrome can affect the development, physical appearance, sexual development and mental health.

Development

  • Slow motor development, such as taking more time than the average for sitting, crawling, and walking.
  • Talk later than other babies of the same age.
  • Learning and language problems, such as problems with reading, writing, spelling or mathematics.

Physical appearance

  • Higher than the average of the height.
  • Longer legs, shorter body, narrow shoulders, wider hips and extra abdominal fat in comparison with other children and adults assigned male at birth.
  • After puberty, the less muscle mass and less body and facial hair in comparison with other teens and adults assigned male at birth.
  • Excess breast tissue, known as gynecomastia.
  • Low levels of energy.

Sexual development

  • Small, firm testicles and a small penis. Babies can be born with testicles that have not moved from the abdomen into the scrotum, a condition known as undescended testicles.
  • The changes of puberty that are delayed, which only included some changes or not occur at all.
  • Low sperm count or no sperm.
  • Low sexual desire.

Mental health

  • Difficulty expressing thoughts and feelings.
  • Having a hard time engaging in social activities.

When to see a doctor

Talk with your health care professional if you notice:

  • Developmental delay during infancy or childhood. Delays in growth and development may be the first sign of a number of conditions that need treatment, including Klinefelter's syndrome. Despite some differences in the physical and mental development is expected among the children, consult with a health care professional if you have any concerns.
  • Problems with fertility. Problems with fertility are not often diagnosed in people with Klinefelter's syndrome, until you realize that you're not able to have a biological child.

Causes

Klinefelter's syndrome occurs due to a random change in the egg or sperm, that makes the baby assigned male at birth to be born with an extra X sex chromosome. The condition is not passed down in families.

Klinefelter's syndrome can be caused by:

  • An extra copy of the X sex chromosomes in each cell (XXY), the most common cause.
  • An extra X sex chromosome in some of the cells. This is called mosaic Klinefelter's syndrome and can result in a lower number of symptoms.
  • More of an extra copy of the X sex chromosome, which is rare and results in a severe form of the syndrome.

In persons assigned male at birth, extra copies of genes on the X sex chromosome may interfere with the sexual development and fertility.

Risk factors

Klinefelter's syndrome occurs due to a genetic change random in either the sperm or the egg. The risk of Klinefelter's syndrome is not raised by anything of what parents do or don't do. For the individuals who carry a pregnancy after the age of 35, the risk is higher, but only slightly.

Complications

Klinefelter's syndrome can increase the risk of:

  • The anxiety and depression.
  • Social, emotional and behavioral problems, such as low self-esteem.
  • Problem with fertility and sexual function.
  • Thin and brittle bones, a condition called osteoporosis.
  • Heart and blood vessels.
  • Breast cancer and other types of cancer.
  • The lung disease.
  • The metabolic syndrome, which includes type 2 diabetes, high blood pressure and high cholesterol and triglycerides.
  • The overweight.
  • Autoimmune disorders such as lupus and rheumatoid arthritis.
  • Tooth and mouth problems that cause dental cavities more likely.
  • Autism spectrum disorder.

Some of the complications caused by Klinefelter's syndrome are the result of low levels of testosterone, also called hypogonadism. Hormone therapy reduces the risk of certain health problems, especially when the therapy is started at the beginning of puberty.

Diagnosis

To diagnose Klinefelter's syndrome, a health professional will perform a physical examination and will ask you questions about your symptoms and health. This can include looking at the genital area and chest, and talking about the development and functioning.

Main tests used to diagnose Klinefelter syndrome are:

  • The hormone test. Blood tests may show changes in hormone levels that are a sign of Klinefelter syndrome.
  • Analysis of the chromosomes. Also called karyotype, this test can confirm a diagnosis of Klinefelter's syndrome. A blood sample is sent to a laboratory to check the shape and number of chromosomes.

Health professionals sometimes diagnose Klinefelter's syndrome before birth when the test is done for another reason. The syndrome can be found in the pregnancy during a procedure to examine the fetal cells obtained from the fluid around the baby or the placenta. These tests may be done for pregnant women, people over 35 years of age or have a family history of genetic diseases.

Klinefelter's syndrome may be suspected during a procedure non-invasive prenatal screening blood test. This test is seen in the cell-free DNA in the pregnant women of the blood sample. To confirm the diagnosis, the more invasive prenatal testing is needed.

Treatment

If you or your child is diagnosed with Klinefelter syndrome, your care team may include a doctor called an endocrinologist who specializes in conditions involving the body's glands and hormones. Your computer may also include a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine specialist in infertility, and a counselor or psychologist.

Although there is no way to repair the sex chromosome changes due to Klinefelter's syndrome, treatment can help lessen its effects. The earlier the condition is diagnosed and treatment begins, the greater the benefits. But it is never too late to get help.

The treatment for Klinefelter's syndrome based on the symptoms and may include:

  • Testosterone therapy. From the time of the usual onset of puberty, testosterone therapy can be administered to help stimulate the changes that occur in puberty. These changes include a deeper voice, facial and body hair, increased muscle mass, and sexual desire. Testosterone therapy can also help bone density. You can help the mood, focus, and attention, too. Testosterone therapy does not help with fertility problems.
  • The breast tissue removal. If there is an excess of tissue of the breast develops, the tissue can be removed by a plastic surgeon, if you want.
  • Of the therapy. Speech and language therapy can help if there are speech or language problems. Physical therapy can help with their motor skills and muscle strength. Occupational therapy can help with the social skills and work skills.
  • Educational evaluation and support. If the learning and socialization are a problem, extra services can help. Talk with your child's teacher, the school counselor or the school nurse about what kind of support is available.
  • The fertility treatment. The majority of people with Klinefelter's syndrome can't have biological children, as few or no sperm are produced in the testicles. For some people that do a small amount of sperm, a procedure called intracytoplasmic sperm injection (ICSI) can help. During ICSI, the sperm is taken from the testicle with a needle biopsy of the needle and injected directly into the egg.
  • Mental health support. Have Klinefelter's syndrome can be a challenge, especially during puberty and young adulthood. Coping with infertility can also be a challenge. A family therapist, a counselor or a psychologist can help you work through the emotional concerns.

Coping and support

Treatment, health education and social support can be very beneficial for people with Klinefelter's syndrome.

Children and adolescents with Klinefelter syndrome

If you have a child with Klinefelter syndrome, who can help with the healthy physical, mental, emotional, and social development.

  • Learn about Klinefelter's syndrome. Then, you can give accurate information, support, and encouragement.
  • Oversee the development of your child. Get help for problems of notice, such as problems with speech or language.
  • Maintain a regular follow-up appointments with medical professionals. This can help prevent problems in the future.
  • Do physical activities and sports available. These activities will help build muscle strength and motor skills.
  • Social and group activities. These activities can help develop social skills.
  • Work in close collaboration with the school of your child. Teachers, school counselors and administrators who understand the needs of your child can make a big difference.
  • Learn what type of help is available. For example, ask about the special education services or mental health services, if necessary.
  • Connect with other parents and families. Klinefelter syndrome is a common condition. Ask your health care professional about internet resources and support groups that can help answer questions and provide support.

Adults with Klinefelter syndrome

If you have Klinefelter's syndrome, you will be able to benefit from these self-care tips:

  • Work with your health care professional. Getting treatment can help you maintain your physical and mental health and to help prevent problems later in life, such as the weakening of the bones that lead to osteoporosis.
  • Find out your options for family planning. You and your partner may want to talk with a health care professional about your options.
  • Meet and talk to other people who have the disease. Ask your health care team about resources that provide information about Klinefelter's syndrome, and that we offer the opinions of others and their partners cope with the disease. You may also find it helpful to join a support group.

If you have mental health problems at any age, such as sadness or low self-esteem, talk to a mental health professional can help.

Preparing for your appointment

If you notice symptoms of Klinefelter syndrome in yourself or your child, talk with your health care professional. You may be referred to a specialist for assessment and diagnosis.

Here's some information to help you prepare for your appointment. If possible, bring a family member or a friend with you. This trusted person can help you remember information and offer emotional support.

What you can do

Before the appointment, make a list of:

  • The symptoms that worry you.
  • Medications, including vitamins, herbs, or other supplements, and dosage.
  • The puberty milestones, such as the age at which the facial and body hair, growth of the penis, and the larger size of the testes began.
  • Questions to ask the health professionals.

Questions could include:

  • Are these symptoms of Klinefelter syndrome?
  • What are the tests needed to confirm the diagnosis?
  • What are other possible causes of the symptoms?
  • It is a specialist needed?
  • What treatments are needed?
  • What are the side effects and the expected results of the treatment?
  • What kind of special therapy do you recommend?
  • What kind of help is available?
  • How can I learn more about this condition?

Feel free to ask questions during your appointment.

What to expect from your doctor

Your health care professional may ask questions such as:

  • What symptoms have you noticed?
  • When did you first notice the symptoms?
  • When were the growth and stages of development are met?
  • Do you have problems with fertility?
  • Have you had any previous tests or treatments? What were the results?

Be ready for your appointment you can give time to talk about what is most important to you.

Symptoms and treatment of Klinefelter's syndrome