Everything You Need To Know About Klinefelter Syndrome
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1. What it is: Klinefelter syndrome is due to a chromosomal abnormality. Therefore, it's present from the birth of the little boy but the symptoms only become visible at puberty. These include the presence of small testicles or the abnormal development of the mammary glands. While normal secretion of testosterone increases at puberty, it decreases in patients with Klinefelter syndrome. In some cases, however, the symptoms are poorly visible and Klinefelter's syndrome is diagnosed only in adulthood when the patient experiences infertility problems. A blood test can then confirm or invalidate the diagnosis. Klinefelter syndrome is quite common as it affects one in 600 males.
2. Symptoms: The symptoms of Klinefelter syndrome vary from person to person. Some will have very few symptoms but infertility is common amongst all men.
In young adolescents:
-Above average height
-Small testicles
-Growth in mammary glands
-Reduced facial and body hair
-Taurodontism (a condition that affects the teeth and increases the risk of cavities)
-Slower language learning, reading, and motor development
In adults:
-Infertility with almost total absence of sperm
-Early osteoporosis
3. Causes: Klinefelter syndrome is a chromosomal abnormality due to the presence of an extra X chromosome. Instead of having 46 chromosomes as a "normal" person, the person with Klinefelter syndrome has 47. This "genetic accident" occurs most often in late pregnancy. The child carries the syndrome while his parents do not.
4. Treatments: Since Klinefelter syndrome is of chromosomal origin, there is no treatment that completely cures all its symptoms. Hormonal testosterone therapy that begins at puberty, however, prevents the appearance of most physical symptoms. Administered in the form of injection, tablets or gel, this regular treatment allows the patient to develop hair, muscle, and a broken voice as they would during puberty and to strengthen their bones.
