Klinefelter’s Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Klinefelter’s syndrome is the most common sex chromosome disorder. This condition is caused by the presence of an extra X chromosome in males (47, XXY). Normal males have XY sex chromosomes, but people with Klinefelter syndrome have XXY sex chromosomes.
People with Klinefelter’s syndrome will experience failure of testicular development, due to hypogonadism and impaired spermatogenesis. The incidence of Klinefelter’s syndrome in the world ranges from 1 in 500–1000 boys. As many as 3.1% of infertile men have this syndrome.
Klinefelter’s Syndrome Symptoms
People with Klinefelter’s syndrome will show several symptoms, such as:
- muscle weakness It is during puberty that the physical symptoms of Klinefelter’s syndrome become more pronounced. Sufferers do not have enough testosterone levels so that the body is not muscular.
- Above average height.
- Minimal body hair. People with Klinefelter’s syndrome do not have sufficient testosterone levels, so patients with this syndrome do not have a lot of body hair.
- Wider hips.
- Gynecomastia (enlargement of breast tissue in men).
- Infertile.
- Small testicles. People with Klinefelter’s syndrome have small testicles, less than 2 cm in size and less than 4 cc in volume.
- Developmental disorders. Patients with Klinefelter’s syndrome will show impaired learning and reading.
Klinefelter’s Syndrome Reason
The cause of Klinefelter’s syndrome is the sex chromosomes. The syndrome, also known as the XXY condition, is a condition that describes males who have an extra X chromosome in most of their cells.
Females normally have a 46, XX chromosome pattern and males have a 46, XY pattern. But people with Klinefelter’s syndrome have a pattern of chromosome 47, XXY. It is this additional chromosome that interferes with the patient’s sexual development until puberty.
Diagnosis
The diagnosis of Klinefelter’s syndrome is determined based on symptoms and chromosomal examination. The diagnostic approach can be taken through a detailed medical interview and physical examination. One important clue is a testicle that feels smaller and harder.
Klinefelter’s syndrome can be recognized by prenatal diagnosis in 10% of cases. However, symptoms may first appear in early childhood or in adolescence. Signs such as the absence of secondary sexual characteristics and spermatogenesis.
Peripheral blood karyotype analysis can assist in determining the diagnosis. Other methods include assessment of serum gonadotropin levels, presence of azoospermia, determination of sex chromatin, and prenatal diagnosis via amniocentesis.
Klinefelter’s Syndrome Treatment
There are several things that can be done to improve the condition of people with Klinefelter’s syndrome. The use of testosterone can be considered. Hormone therapy is a way that can be done to prevent osteoporosis.
Breast tissue enlargement can be corrected surgically. This is to increase the patient’s self-confidence. Behavioral therapy can reduce a variety of language disorders, school difficulties, and socialization problems.
Prevention
There are no preventive measures that can be taken to avoid Klinefelter’s syndrome.