What is Klinefelter syndrome?
Klinefelter syndrome is a genetic pathology of men, based on endocrine disorders caused by additional female chromosomes in the set of sex chromosomes. This is a fairly common genetic disease.…

Continue reading →

Gaucher disease
A rare hereditary disease, characterized by the fact that the patient in the cells of bones and internal organs accumulate fats of a certain type - glucocerebrosides. Gaucher disease is…

Continue reading →

The influence of the man’s age on the child’s health
The fact that the age of a woman affects the future baby, the risk of developing pathologies in it, is known to many: when a pregnant woman is over 35,…

Continue reading →

case of Klinefelter syndrome

Unusual Diseases: Stone Man Syndrome

The stone man’s syndrome in medicine is called progressive ossifying fibrodysplasia, or Müncheimer’s disease. This is a genetic pathology that is caused by a mutation of the gene responsible for bone formation. Its essence lies in the fact that the patient ligaments and muscles turn into bones, as a result, a person ossifies or stiffens. Hence the name – stone man syndrome.

This disease is known since the end of the XVII century, then it was first described. The disease is extremely rare. Now, according to various sources, there are 600, 800 or 2500 patients in the world. Continue reading

What is Klinefelter syndrome?

Klinefelter syndrome is a genetic pathology of men, based on endocrine disorders caused by additional female chromosomes in the set of sex chromosomes. This is a fairly common genetic disease. According to statistics, 0.2% of men are susceptible to it, and among endocrine disorders, Klinefelter syndrome ranks third (diabetes mellitus in the first place, and thyrotoxicosis in the second). But according to the same statistics, only 50% of cases are diagnosed. Continue reading

What mental diseases are inherited
Are mental diseases inherited? This question worries many parents. After all, it is very scary to “reward” your child with a mental disorder. How are mental illnesses transmitted? The fact…

...

Chest pain is not a heart problem
If there is pain in the chest, then the first thing we suspect is heart pain. However, doctors say that about 25% of patients referring to them for alleged heart…

...