Klinefelter Syndrome - Causes, Symptoms, Diagnosis
 Klinefelter's syndrome is a relatively common genetic abnormalities, which is found only among the male half of humanity. According to medical observations, the disease appears at approximately 0, 2%, which means that 1 in 500 newborn males. In addition, such pathologies performs one of the most common causes of infertility and male erectile dysfunction. The disease was named after Harry Klinefelter, who first described the clinical picture of him in 1942 in his work.

Symptoms of Klinefelter's syndrome

This genetic disease, such as Klinefelter syndrome is characterized primarily by the presence of one or more of the female sex chromosome X in a male XY karyotype. The disease manifests itself insufficient number of sex hormones in the male sex glands, which leads to the development of serious pathologies such as erectile dysfunction and infertility.

Other typical symptoms of Klinefelter's syndrome are:

  • External signs;
  • Testicular atrophy;
  • The weakening of libido and decreased potency;
  • The weakness of the muscles.

Often the presence of a man of such diseases as Klinefelter syndrome speak outward signs. First of all they should be attributed tall, legs much longer than the body and a high waist. Hair on the face and body of the patient often is missing or it is very poor. In the pubic area hair for men suffering from this disease, increasing the female type, then there is a line of hair straight, while men usually it is directed to the navel and acts as a diamond. Half of the patients an increase in mammary glands.

Testicular atrophy leads to their reduction in size. Often, patients have hard testicles, although this symptom is not required if there is a sign of pathology.

The weakened libido and reduced potency, as a rule, are the common symptoms of Klinefelter's syndrome. They usually begin to be felt for twenty-five years of age. It should be noted that in some cases patients are absolutely no sexual attraction. Along with this medical practice known exceptions, when a man affected by a disease, creates a family and live a full sexual life.

Insufficient amount of androgens in this pathology could also lead to the development of osteoporosis, which is characterized by decreased bone density and weakening of the muscles. In addition, the lack of androgens, strongly influencing metabolism may provoke diabetes and contribute to obesity.

Also, in patients with Klinefelter's syndrome is observed predisposition to certain autoimmune diseases:

  • Thyroid disease;
  • lupus erythematosus;
  • rheumatoid arthritis.

With regard to the mental abilities of patients, there is a clear opinion does not exist. In some cases, men are prone to disease, are experiencing difficulties in the development of verbal and cognitive abilities, but it is not mandatory symptom.

According to some studies, men with Klinefelter's syndrome are often exposed to homosexuality, as well as addiction to alcohol and drugs. If we talk about the psychological characteristics of patients, it is possible to identify such properties as high 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.

Diagnosis and treatment of Klinefelter's syndrome

Diagnosis Klinefelter syndrome at an early stage of the disease is virtually impossible, since it is clinically manifested just after puberty. Of course, careful approach in some cases, help to suspect the presence of pathology, as described above characteristic physical signs are detected before beginning the process of sexual development of the boy.

It is important to know that a significant addition to the growth, which distinguishes the patient from his peers, usually observed between the ages of 5 and 8 years old. For the diagnosis of Klinefelter syndrome yet another characteristic feature can serve as gynecomastia, or breast enlargement. However, 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 testes.

However, if these symptoms occur, you should take a blood test to determine the level of sexual hormones. However, a complete diagnosis of Klinefelter syndrome also involves the study of a set of chromosomes, ie male karyotype. Only after such an analysis may confirm the diagnosis.

 Klinefelter syndrome - a chromosomal abnormality
 With regard to the treatment of Klinefelter's syndrome, the experts strongly advise to start it immediately after detecting the presence of the disease. However, it should say at once that it is most effective before puberty, when the body is able to respond to therapy as needed. In this case, all external signs of the disease can be eliminated.

Thus, Klinefelter syndrome treatment is carried out primarily with the use of hormone replacement therapy with testosterone. This provokes a timely expression of secondary sexual characteristics, as well as promotes social adaptation and correction of the intellectual abilities of patients.

However, you should know about the side effects of this treatment, since testosterone often causes fluid retention and increased excitation in the first days after the injection procedures. Pronounced gynecomastia often eliminated by removing the breast.

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





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