Genetic Test
The TPO (Thyroid Peroxidase) gene encodes an essential enzyme involved in the synthesis of thyroid hormones, playing a central role in thyroid gland function.
Thyroid peroxidase catalyzes key steps in the production of thyroxine (T₄) and triiodothyronine (T₃), including the iodination of tyrosine residues and the coupling of iodotyrosines.
Mutations in the TPO gene can impair these processes, leading to reduced or defective thyroid hormone production.
This genetic test targets four known mutations in the TPO gene associated with congenital hypothyroidism.
Disease Description
Congenital hypothyroidism is a condition that occurs when the thyroid gland fails to produce sufficient amounts of thyroid hormones from birth.
Thyroid hormones are critical for regulating the growth, metabolism, and development of many bodily systems.
When these hormones are deficient or inactive, it can lead to impaired physical growth and neurological development, potentially resulting in delayed maturation, stunted growth, and cognitive dysfunction.
