Klaynfeltera syndrome

Klaynfelter's syndrome represents quite widespread genetic pathology which occurs only among representatives of male half of humanity. On medical observations, this disease develops with a frequency about 0,2% that means 1 case on 500 male newborns. Besides, such pathology acts as one of the most common causes of infertility and erectile dysfunction of men. The disease was called in honor of Harry Klaynfelter who for the first time described his clinical picture in 1942 in the works.

Symptoms of a syndrome of Klaynfelter

Such genetic disease as Klaynfelter's syndrome is characterized first of all by existence of one or several female gonosomes X in a men's karyotype of HU. The disease is shown by insufficient quantity sexual hormones in male gonads, as leads to development of such serious pathologies as disturbance of erectile function and infertility.

Act as other characteristic symptoms of a syndrome of Klaynfelter:

• External signs;
• Atrophy of testicles;
• Weakening of a libido and decrease in a potentiality;
• Weakness of muscles.

Often about existence at the person of such pathology as Klaynfelter's syndrome is told by external signs. First of all it is necessary to refer high growth to them, legs are much longer trunks and a short waist. Vegetation on a face and the patient's body most often is absent or it is very scanty. In the field of a pubis hair at the men having such disease grow on female type, that is the line of hair a straight line whereas at men, as a rule, it is directed to a navel and acts in the form of a rhombus. At a half of patients increase in mammary glands is observed.

The atrophy of testicles leads to their reduction in sizes. Quite often at patients firm testicles are observed though this symptom is not an obligatory sign in the presence of pathology.

The weakened libido and the lowered potentiality, as a rule, act as common symptoms of a syndrome of Klaynfelter. They usually begin to have an effect to twenty-five year age. It should be noted that in some cases patients absolutely have no sexual inclination. Together with it also exceptions when the man subject to such disease establishes a family are known to medical practice and leads full-fledged sex life.

The insufficient quantity of androgens at this pathology can also lead to development of osteoporosis of which decrease in density of bones and weakening of muscles is characteristic. Besides, the lack of the androgens which are strongly influencing a metabolism can provoke emergence of a diabetes mellitus and promote obesity.

Also at patients with Klaynfelter's syndrome predisposition to some autoimmune diseases is observed:

• Diseases of a thyroid gland;
• Lupus erythematosus;
• Pseudorheumatism.

As for mental capacities of patients, here unambiguous opinions does not exist. In certain cases the men subject to a disease experience difficulties in development of verbal and cognitive abilities, but it is not an obligatory symptom.

According to some researches, the man with a syndrome Klaynfelter are quite often subject to homosexual bents, and also drinking habit and drugs. If to speak about psychological features of patients, then it is possible to reveal their such properties as hypersensitivity and emotionality, shyness and modesty. Some psychologists often note existence of an inferiority complex and the underestimated self-assessment at patients with this pathology.

Diagnosis and treatment of a syndrome of Klaynfelter

Diagnosis of a syndrome Klaynfeltera at an early stage of a disease is almost impossible as it is clinically shown only after puberty. Of course, attentive approach in some cases helps to suspect existence of pathology, the characteristic physical signs described above come to light even prior to process of sexual development of the boy.

It is important to know that considerable addition in growth which distinguishes the patient from his peers is observed usually aged from 5 up to 8 years. For diagnosis of a syndrome of Klaynfelter the gynecomastia or increase in mammary glands can be one more characteristic sign. Together with it it should be noted that such symptom is observed only at a half of patients, as well as the small size and hardness of testicles.

Nevertheless, if similar symptoms are observed, it is necessary to make blood test to determine the level of sex hormones. However full diagnosis of a syndrome of Klaynfelter assumes also studying of set of chromosomes, that is the man's karyotype. Only after such analysis confirmation of the diagnosis is possible.

As for treatment of a syndrome of Klaynfelter, specialists insistently advise to begin it right after definition of existence of a disease. However it is necessary to tell at once that it is the most effective prior to the beginning of sexual development when the organism is capable to react to therapy as necessary. In this case all external symptoms of a disease can be eliminated.

So, treatment of a syndrome of Klaynfelter is carried out first of all using replacement hormonal therapy by testosterone. It provokes timely manifestation of secondary sexual characteristics, and also promotes social adaptation and correction of mental abilities of patients.

However it is necessary to know also about side effects of such treatment as testosterone quite often causes a liquid delay in an organism and the strengthened excitement in the first days after the procedure of an injection. The pronounced gynecomastia is often eliminated by means of removal of a mammary gland.

Until recently was considered that the most important manifestation of a syndrome of Klaynfelter – infertility, incurably. However the technology of extracorporal fertilization showed positive takes which give hope that patients with such diagnosis nevertheless can have posterity.