Klinefelter Syndrome - Symptoms, Diagnosis, Treatment

2024 Author: Rachel Wainwright | [email protected]. Last modified: 2023-12-15 07:39

Klinefelter syndrome

Klinefelter's syndrome is a fairly common genetic pathology that occurs exclusively among the male half of humanity. According to medical observations, this disease occurs with a frequency of approximately 0.2%, which means 1 case in 500 male newborns. In addition, this pathology is one of the most common causes of infertility and erectile dysfunction in men. The disease was named after Harry Klinefelter, who first described its clinical picture in 1942 in his works.

Klinefelter syndrome symptoms

A genetic disease such as Klinefelter's syndrome is characterized primarily by the presence of one or more female sex chromosomes X in the male XY karyotype. The disease is manifested by an insufficient amount of sex hormones in the male gonads, which leads to the development of such serious pathologies as erectile dysfunction and infertility.

Other characteristic symptoms of Klinefelter syndrome are:

• External signs;
• Testicular atrophy;
• Weakening of libido and decreased potency;
• Weakness of the muscles.

Often, external signs indicate that a person has such a pathology as Klinefelter's syndrome. First of all, they should be attributed to high growth, legs are noticeably longer than the body and a high waist. The vegetation on the face and body of the patient is most often absent or very scarce. In the pubic area, hair in men suffering from this disease grows in the female pattern, that is, the hair line is straight, while in men, as a rule, it is directed to the navel and protrudes in the form of a diamond. In half of the patients, an increase in the mammary glands is observed.

Atrophy of the testicles leads to their decrease in size. Often, patients have hard testicles, although this symptom is not a mandatory sign in the presence of pathology.

Weakened libido and decreased potency are usually common symptoms of Klinefelter syndrome. They usually begin to make themselves felt by the age of twenty-five. It should be noted that in some cases, patients have absolutely no sexual desire. Along with this, medical practice knows exceptions, when a man subject to such a disease creates a family and lives a full sexual life.

An insufficient amount of androgens in this pathology can also lead to the development of osteoporosis, which is characterized by a decrease in bone density and a weakening of muscles. In addition, a lack of androgens, which strongly affect the metabolism, can trigger the onset of diabetes and contribute to obesity.

Also, patients with Klinefelter's syndrome have a predisposition to certain autoimmune diseases:

• Diseases of the thyroid gland;
• Lupus erythematosus;
• Rheumatoid arthritis.

As for the mental abilities of patients, there are no unequivocal opinions. In some cases, affected men have difficulty developing verbal and cognitive abilities, but this is not a necessary symptom.

According to some studies, men with Klinefelter syndrome are often subject to homosexual tendencies, as well as addiction to alcohol and drugs. If we talk about the psychological characteristics of patients, then it is possible to identify such properties as increased sensitivity and emotionality, shyness and modesty. Some psychologists often note the presence of an inferiority complex and low self-esteem in patients with this pathology.

Diagnostics and treatment of Klinefelter syndrome

Diagnosis of Klinefelter's syndrome at an early stage of the disease is almost impossible, since it clinically manifests itself only after puberty. Of course, an attentive approach in some cases helps to suspect the presence of pathology, because the characteristic physical signs described above are detected even before the boy's sexual development begins.

It is important to know that a significant increase in growth, which distinguishes the patient from his peers, is usually observed at the age of 5 to 8 years. For the diagnosis of Klinefelter's syndrome, gynecomastia or breast enlargement may be another characteristic feature. At the same time, it should be noted that this symptom is observed only in half of the patients, as well as the small size and hardness of the testicles.

However, if these symptoms are observed, a blood test should be done to determine the level of sex hormones. However, a complete diagnosis of Klinefelter's syndrome also involves the study of a set of chromosomes, that is, a man's karyotype. Only after such an analysis is it possible to confirm the diagnosis.

As for the treatment of Klinefelter's syndrome, experts strongly advise starting it immediately after determining the presence of the disease. However, it should be said right away that it is most effective before the onset of sexual development, when the body is able to respond to therapy in the right way. In this case, all external signs of the disease can be eliminated.

So, the treatment of Klinefelter's syndrome is carried out primarily with the use of hormone replacement therapy with testosterone. This provokes the timely manifestation of secondary sexual characteristics, and also contributes to social adaptation and correction of the intellectual abilities of patients.

However, you should be aware of the side effects of such treatment, since testosterone often causes fluid retention in the body and increased arousal in the first days after the injection procedure. Severe gynecomastia is often treated with breast removal.

Until recently, it was believed that the most important manifestation of Klinefelter's syndrome - infertility, is incurable. However, in vitro fertilization technology has shown positive results, which give hope that patients with such a diagnosis can still have offspring.

YouTube video related to the article:

The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!