Atheliosis (Gr. Atelia - Incompleteness)

Atheliosis (Gr. Atelia - Incompleteness)

Atheliosis is a hereditary disease characterized by short stature due to insufficient production of growth hormone by the pituitary gland.

The cause of atheliosis is mutations in the genes responsible for the development and functioning of the anterior pituitary gland. This leads to reduced or absent growth hormone secretion and the development of pituitary dwarfism.

The main symptoms of atheliosis:

1. Low stature, not exceeding 130 cm in an adult.

2. Growth retardation starting in childhood.

3. Body disproportion: short limbs, normal body size.

4. Delayed puberty.

5. Childish facial features.

Diagnosis of atheliosis is based on history, clinical picture, as well as laboratory confirmation of growth hormone deficiency.

Treatment consists of lifelong replacement therapy with recombinant growth hormone preparations, which allows for normalization of growth and sexual development.

Thus, atheliosis is a severe hereditary disease of the pituitary gland, leading to severe dwarfism. Timely diagnosis and adequate therapy with growth hormone can significantly improve the prognosis and quality of life of patients.