Congenital Hypothyroidism (CH)

Congenital Hypothyroidism (CH) is a condition present at birth in which the thyroid gland fails to produce adequate amounts of thyroid hormones, essential for growth and brain development. Congenital hypothyroidism can result from thyroid gland dysgenesis (absence, underdevelopment, or ectopic location), dyshormonogenesis (defects in hormone synthesis), or, rarely, central causes involving the hypothalamus or pituitary gland.

Newborns with this disorder may initially appear normal due to maternal hormone transfer, but symptoms can gradually develop. These include prolonged jaundice, poor feeding, lethargy, constipation, a hoarse cry, and delayed growth. If untreated, it can lead to severe intellectual disability and growth failure.

Early detection is achieved through neonatal screening programs, typically by measuring thyroid-stimulating hormone (TSH) and thyroxine (T4) levels shortly after birth. Prompt treatment with oral levothyroxine is highly effective and usually lifelong. Regular monitoring ensures appropriate dosing and optimal developmental outcomes.

With early diagnosis and consistent therapy, most children with congenital hypothyroidism can lead normal, healthy lives with typical physical and cognitive development.