Genetic Basis of Thyroid Dysfunction

Common Genetic Mutations Associated with Hypothyroidism

Hypothyroidism, a condition marked by inadequate thyroid hormone production, has strong genetic influences. Recent research has highlighted several mutations affecting thyroid hormone synthesis and regulation.

1. TSHR Gene Mutations

The Thyroid Stimulating Hormone Receptor (TSHR) gene plays a crucial role in stimulating thyroid hormone production. Mutations in TSHR can lead to congenital hypothyroidism.

2. DUOX2 and DUOXA2 Gene Variants

DUOX2 and DUOXA2 genes are involved in thyroid hormone synthesis. Mutations in these genes can result in defective hormone production, leading to dyshormonogenesis-associated hypothyroidism.

3. PAX8 Gene Deficiency

PAX8 is essential for thyroid gland development. Mutations in PAX8 can cause thyroid dysgenesis, contributing to congenital hypothyroidism.

4. NKX2-1 Gene Mutation

The NKX2-1 gene regulates thyroid, lung, and brain development. Mutations may present with hypothyroidism and neurological symptoms.

Genetic Testing and Future Perspectives

Genetic screening for thyroid disorders is becoming more accessible. Early detection can improve treatment outcomes, especially for hereditary forms of hypothyroidism.