Congenital Hypothyroidism

Congenital Hypothyroidism is a condition present at birth where the thyroid gland does not produce enough thyroid hormone, which is essential for normal growth and brain development. The thyroid gland is part of the endocrine system and helps regulate metabolism and energy use in the body. Without enough thyroid hormone, infants may experience slow growth, developmental delays, and low energy. Early symptoms can be subtle, but untreated, the condition can lead to serious problems like intellectual disability and stunted growth. Newborn screening programs test for this condition to allow for early diagnosis and treatment. The main health impact is on the nervous system and overall physical development.

Congenital Hypothyroidism is a disorder characterized by insufficient production of thyroid hormone from birth, primarily due to thyroid dysgenesis (agenesis, hypoplasia, or ectopy) or dyshormonogenesis caused by genetic defects in hormone synthesis. This deficiency leads to impaired neurocognitive development and growth retardation if untreated. The condition is the most common preventable cause of intellectual disability worldwide. It is typically detected by elevated thyroid-stimulating hormone (TSH) and low free thyroxine (T4) levels on newborn screening. The lack of thyroid hormone disrupts normal metabolic processes and brain maturation during critical early life stages. Early diagnosis and hormone replacement therapy are crucial to prevent irreversible complications.