Dwarfism Thyroid

Thyroid dwarfism is a rare genetic disease in which the synthesis of thyroid hormones is disrupted.

This disease has a high genetic component and is transmitted through an autosomal recessive (from parent to child) or autosomal dominant (through germ cells) inheritance mechanism. As a result, approximately 2-5% of people develop a thyroid phenotype - a disorder of the development of the thyroid gland, leading, in turn, to a decrease in the level of thyroid hormones (for example, thyroxine (T4) and triiodothyronine (T3)). The disease manifests itself as a delay in general physical and mental development, short stature and other anomalies.

The cause of this disease is a genetic defect in the TPO gene, which is responsible for regulating the synthesis of thyroid-stimulating hormone (TSH), which controls the functioning of the thyroid gland. If there is a defect in the TPO gene or other genes associated with TSH synthesis, the hormone is produced in insufficient quantities, which leads to a long-term decrease in T4, T3, increased TSH and hormone-induced hypothyroidism. This can be manifested by the suppressed development of children and the emergence of some socio-psychological, emotional and cognitive problems in them.