Fat-sex dystrophy is a rare endocrine disorder characterized by significant obesity and underdevelopment of the external genitalia in boys diagnosed with a tumor in the hypothalamic-pituitary region.
The disease was first described in 1900 by a Polish doctor, Józef Babinski. A year later, Alfred Frohlich also did it. Therefore, the disease is often called Babinsky-Frohlich syndrome.
In affected men, excess body fat is deposited in areas that are “reserved” for women in healthy people, that is, on the buttocks, on the pubic mound and around the breasts. Usually, the testicles are poorly developed or do not descend at all. Women develop huge obesity and sparse hair growth.
For both sexes, the loss of sex drive is characteristic. There may also be general developmental disorders, especially short limbs and small feet and hands. It is also characteristic that the epiphyseal cartilages, i.e. the cartilage tissue located near the growing bone, do not overgrow. This is where bones can grow in length.
In the case of Babinski-Frolich syndrome, changes appear in the pituitary gland itself. They are responsible for the occurrence of sexual abnormalities and changes in the diencephalon, and these are the causes of fat disorders. Researchers emphasize that all the symptoms characteristic of the disease are related to changes in the gray tumor, which is an anatomical structure found in the brain. It has also been proven that damage to even a small part of the ash tumor negatively affects fat metabolism and results in the atrophy of the genital organs.
It is known from the described cases of the disease that tumors in the pituitary gland can be quite large. A large tumor compresses the optic nerves, which causes visual disturbances, visual field defects, strabismus and double vision. Sometimes the pressure on the optic nerves is so great that the patient loses his sight. The intracranial pressure initially manifests itself with headaches and sometimes also with frequent vomiting.
When diagnosing fat-sex dystrophy, it is necessary to exclude other conditions that give similar symptoms. Of particular importance is the exclusion of Prader-Willi syndrome, which is a group of (congenital) genetic defects caused by chromosomal aberration, most often the loss of the long arm of the paternal chromosome 15.
Text: Anna Jarosz