"Breakdown" of one gene can lead to the development of very serious diseases, while it is completely impossible to cure them. One of these pathologies is Kalman's syndrome. This syndrome occurs predominantly in men, although it is also sometimes found in females.
General description of the disease
Kalman syndrome is a hereditary pathology that is transmitted by an autosomal recessive, autosomal dominant, X-linked gene.
The disease is characterized by disorders of the hypothalamus and pituitary gland. In this case, the first one incorrectly produces the releasing factor. It, in turn, helps to reduce the production of gonadotropin in the pituitary gland. In this case, the normal functioning of the gonads becomes impossible.
Causes for the development of pathology
Kalman syndrome is a genetic disease that can be triggered by anything. The main reason for the development of pathology is the incorrect connection of the male and female cells during conception. That is, one of the cells contained the "broken" gene,which gives a high probability of further manifestation of the disease in the child.
Naturally, external factors can also influence the deterioration of the quality of the genetic core. The main one is the environment. Long-term interaction with chemicals can also cause various mutations. Kalman syndrome may be too obvious or expressed in small deviations from the norm.
Symptoms of the disease
The presented disease has specific signs, so it is easy to distinguish it from other pathologies. If a patient is diagnosed with Kalman syndrome, the symptoms may be:
- Unfinished puberty. Sometimes it is almost completely absent. For example, in men, there is a small volume of testicles - only 3 ml (normally it should be 12 ml).
- Hyperplasticity and poor pigmentation of the scrotum.
- Significant underdevelopment of the penis and prostate.
- The distribution of adipose tissue, like a woman's.
- Complete or partial absence of secondary sexual characteristics. For example, men may not have body hair.
- Sexual passivity.
- Systemic malformations: cleft palate, cleft lip, gothic sky.
- Inability to smell. At the same time, the taste perception remains.
These signs can be expressed significantly or weakly. It all depends on the degree of disruption of the hypothalamus and pituitary gland.
Featuresdiagnostics
Kalman's syndrome (photos of patients presented on specialized medical resources show obvious deviations in the structure of the male body) is not a very common disease. However, its diagnosis should be treated with special attention. It provides for the following actions:
- Checking the main levels of hormones in the body: estradiol, testosterone, prolactin, growth hormone. The test is long and revealing. It is held for at least a week.
- Additional study to help specialists distinguish the syndrome from constitutional delay in sexual development.
- Smell test. This is done very simply: the patient is given substances (soap, perfume) with a strong aroma. Based on the results of the examination, a conclusion is made: whether a person has a normal sense of smell or not.
- Ultrasound of the kidneys and testicles.
- MRI of the hypothalamus and pituitary gland. In addition, during the examination with a tomograph, one should pay attention to any neoplasms in the head that can provoke the appearance of the symptoms described above.
- Family history taking. Since the presented pathology is inherited, obtaining information about cases of the disease in the patient's family will make it possible to make the most accurate diagnosis.
Features of treatment
Since the pathology is genetic, it will not be possible to completely get rid of it. However, therapy is necessary. Immediately after the diagnosis is made, the patient is giventestosterone. The procedure is carried out over several months.
Thanks to this therapy, specialists can achieve an improvement in the general well-being of the patient, an increase in sexual desire. In addition, verification is achieved. After that, doctors continue therapy aimed at restoring the ability to produce mature spermatozoa. In this case, it is no longer testosterone that is used, but gonadotropins.
Please note that if a man has been diagnosed with Kalman syndrome, treatment will have to be carried out for life. It will help maintain secondary sexual characteristics and restore a relatively normal life. However, if a patient with such a diagnosis decides to have children, he should definitely turn to genetics. The risk of having a child with such a pathology remains very high. Otherwise - with a small severity of symptoms and proper therapy - the patient can lead a completely normal life.
As for prevention, it is practically non-existent. Naturally, it is desirable to avoid those factors that can lead to "breakage" of the gene. Stay he althy!
