Klinfeltere's Syndrome

1 What is Klinfeltere's Syndrome?

Klinefelter’s syndrome is one of the most common genetic disorder affecting males, across the globe. It is caused due to the presence of an extra copy of X – Chromosome.

This extra X- chromosome interferes the development of male sexual characteristics or results in the appearance of some feminine characters like reduced muscle mass, reduced facial and body hairs, voice changes, and enlarged breast tissue, but the symptoms varies from individual to individual.

In most of the cases, the patient has reduced or no sperm count. Although there is no way to treat the cause of the problem but with proper management, the effects and complications could be minimized.

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2 Symptoms

The symptoms of Klinfeltere's syndrome may vary from person to person depending on various factors like age, but the most prevalent ones are described below.

The symptoms which indicate Klinefelter’s syndrome in babies include:

  • Weak muscle movement
  • Slow development of motors
  • Delayed start off sitting, crawling or walking
  • Docile and quiet personality
  • Testicles are not descended into scrotum

Klinefelter’s syndrome in boys could be indicated by:

  • Taller body stature with longer legs
  • Shorter torso with broader hips
  • Delayed, incomplete or absence of puberty

In adults, indications of Klinefelter’s syndrome include:

  • Reduced muscle mass
  • Less facial and body hairs
  • Firm testicles
  • Smaller penis
  • Enlarged breast tissues known as gynecomastia
  • Weak bones
  • Less energy
  • Shyness
  • Difficulty in expressing feelings or socializing
  • Problems in learning, reading and writing

Attention requiring symptoms in men:

  • Impotency
  • Smaller testicles and penis
  • Gynecomastia and decreased facial/body hairs
  • Weak bones and low energy levels
  • Decreased sex drive

Klinefelter’s syndrome may remain undiagnosed till adulthood due to fewer or absence of noticeable symptoms. Though some variations in mental and physical development are common, delayed growth and development are the first signs of abnormalities like Klinefelter’s syndrome.

So, one should consult a doctor as soon as any of the symptoms mentioned above is seen. Early treatment with assisted therapies can help in preventing or minimizing the problems associated with the disease.

3 Causes

Klinefelter’s syndrome is caused by a random genetic error in males. Normally, there are 46 chromosomes in humans, out of which two chromosomes called sex chromosomes are responsible for determining the sex of an individual.

There are two copies of X- chromosomes in females i.e. XX; and one X plus one Y chromosome in males i.e., XY. The affected males have an additional copy of X-chromosome, i.e., XXY, in some cells (known as mosaic Klinefelter’s syndrome) or every cell of the body.

This interferes with the development of male sexual characteristics and often results in male infertility. Klinefelter's syndrome is not a hereditary disease as it results due to a random addition of an extra chromosome during gamete (egg or sperm) formation or during conception.

4 Making a Diagnosis

There are very rare chances that a person could be diagnosed with Klinefelter’s syndrome before birth. This is only possible if the pregnant mother had tests like amniocentesis or chorionic villus sampling.

Amniocentesis involves examination of fetal cells drawn from amniotic fluid while chorionic villus sampling involves examination of fetal cells from the placenta. Usually, these tests are done if the female is above 35 years of age or has the family history of hereditary disorders.

One should consult a doctor as soon as he notices any sign or symptom of Klinefelter’s syndrome. The doctor will examine the patient thoroughly which involves examination of chest and genitals. He will also ask detailed questions about the symptoms and health of the patient for making an accurate diagnosis.

The doctor will perform various tests to check the reflexes, mental functioning, and hormonal levels. For confirmation, the doctor will suggest chromosome analysis, known as karyotyping. This analytical test involves laboratory examination of the chromosomes in the cells, usually from blood samples, to clearly identify the number, shape and size of the chromosomes.

5 Treatment

After diagnosing Klinefelter’s syndrome, the doctor will suggest the relevant treatment and therapies to minimize the problems associated with it. The doctor may recommend hormonal therapy, speech therapy, physical therapy, infertility treatment, genetic counseling and psychotherapy.

Although the genetic damage is not repairable, treatments reduce the problems and complications to minimal. Earlier diagnosis and treatment increases the benefits of the treatments, so one should consult a doctor as soon as possible.

Some of the commonly suggested therapies involve:

  • Hormonal therapy: usually, the patients with Klinefelter’s syndrome do not have enough amount of hormone testosterone, which causes lifelong effects. Thus, testosterone replacement therapy is recommended. Testosterone can be given as an injection, gel or patch on the skin. The therapy does not aid infertility cure or testicular enlargement but it is very helpful in curing other associated problems. At the onset of puberty, testosterone replacement therapy can help a patient to undergo normal puberty changes like the development of deeper voice, the growth of facial and body hairs, increase in muscle mass and penis size; and improved bone density.
  • Breast surgery: the patients who have enlarged breast tissue can undergo a surgical procedure to reduce this abnormality. The plastic surgeon will remove the excess breast tissue, which results in reduced breast size and gives a normal look to the patient.
  • Speech therapy: speech therapy helps a patient to deal with language and speech challenges.
  • Physical therapy: physical therapy helps a patient to tone muscle tissue hence normalizing the looks and enhancing physical strength.
  • Educational assistance: some patients may need extra educational support to deal with troubles while learning, reading or writing.
  • Psychotherapy: coping Klinefelter’s syndrome is a very challenging task and could cause severe emotional trauma, especially during puberty and young adulthood. So, counseling can help the patient to deal with such a difficult task. It helps in motivating and enhancing patient’s confidence and reducing emotional stress so that they could live a better life.
  • Infertility treatment: as infertility is one of the common effects of Klinefelter’s syndrome, treatments like intra-cytoplasmic sperm injection (ICSI) offers a great help. ICSI involves removal of sperm from testicles with the help of a biopsy needle and then injecting it directly into the egg. This helps a patient to father children. Alternatives include artificial insemination or adoption.

6 Prevention

As Klinefelter's syndrome is the result of a random error, there is no known method to prevent its occurrence.

7 Alternative and Homeopathic Remedies

There is no known alternative home remedy but support from family and friends could help the patient in coping with the disease.

8 Lifestyle and Coping

Coping with Klinefelter’s syndrome is a very challenging task but with proper treatment and management, one could expect to lead a healthy and normal life.

Careful monitoring of the development of your dear ones can help in early diagnosis of the disease and hence the problem could be effectively managed.

Other measures which could help the patient to live a better life include:

  • Participation in physical activities and sports could help in the development of muscular mass and building strength. It also helps in enhancing person’s confidence.
  • Supportive nature of parents, friends, teachers and colleagues can encourage the patient to lead a normal and independent life.
  • Working close to the doctor helps in dealing with problems in a more effective manner.
  • Appropriate treatment helps in maintaining physical and mental health and prevents the development of further complications.
  • Consulting a psychologist helps in dealing with emotional stress and managing the disease in a better way.

9 Risks and Complications

Klinefelter’s syndrome occurs due to a random genetic error hence, there are no major risk factors which cause the disease. However, the age of the mother may slightly increase the risk of Klinefelter’s syndrome.

Complications associated with it involve:

  • Delayed puberty
  • Noticeable physical characteristics like sparse body hairs enlarged breast tissue, etc.
  • Increased risk of diabetes type-1
  • Increased risk of lung disorders
  • Increased risk of autoimmune disorders and
  • Infertility