A “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 syndrome. This syndrome occurs mainly in men, although it is also sometimes found in female representatives.
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 incorrectly produces releasing factor. It, in turn, helps to reduce the production of gonadotropin in the pituitary gland. The normal functioning of the sex glands becomes impossible.
Reasons 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 improper connection of the male and female cells during conception. That is, in one of the cells the "broken" gene was contained, which gives a high probability of further manifestation of the disease in the child.
Naturally, external factors can also affect the deterioration of the quality of the genetic core. The main one is the environmental situation. Prolonged interaction with chemicals can also cause various mutations. Kalman syndrome can manifest itself too clearly or be 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 has Kalman syndrome, the symptoms may be as follows:
- Incomplete puberty. Sometimes it is almost completely absent. For example, in men, a small testicular volume is noted - only 3 ml (normally it should be 12 ml).
- Hyperplasticity and poor pigmentation of the scrotum.
- Noticeable underdevelopment of the penis and prostate gland.
- The distribution of adipose tissue, as in a woman.
- Complete or partial absence of secondary sexual characteristics. For example, men may have no hairline on the body.
- Sexual passivity.
- Systemic malformations: cleft palate, cleft lip, gothic sky.
- Inability to smell. At the same time, 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.
Diagnostic Features
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 given special attention. It provides for the implementation of such actions:
- Checking the basic levels of hormones in the body: estradiol, testosterone, prolactin, growth hormone. The test is long and indicative. It takes at least a week.
- An additional study that will help specialists distinguish the syndrome from constitutional delay in sexual development.
- Odor sensitivity test. This is done very simply: the patient is given substances (soap, perfume) with a strong aroma. According to the results of the examination, a conclusion is made: the 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 above described symptoms.
- Collection of family history. 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.
Treatment features
Since the pathology is genetic, it will not be possible to completely get rid of it. However, therapy is necessary. Immediately after diagnosis, the patient begins to inject testosterone. The procedure is carried out for several months.
Thanks to this therapy, specialists can achieve an improvement in the general well-being of the patient, increase in sexual desire. In addition, verification is achieved. After that, doctors continue therapy aimed at restoring the possibility of producing mature sperm. In this case, not testosterone, but gonadotropins are used.
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 consult a geneticist. The risk of having a baby with a similar pathology remains very high. The rest - with a slight severity of symptoms and proper therapy - the patient can lead a completely normal life.
As for prevention, it practically does not exist. Naturally, it is advisable to avoid those factors that can lead to "breakdown" of the gene. Be healthy!