Overview
Congenital hypothyroidism is a condition in which a baby is born with an underactive thyroid gland. It can lead to growth and developmental problems if not treated early. Newborn screening is essential for early detection.
Symptoms
Symptoms may include jaundice, lethargy, poor feeding, a large fontanelle, constipation, and a hoarse cry. Early detection and treatment are critical.
Causes
The most common cause is a developmental defect of the thyroid gland (dysgenesis). Other causes include genetic disorders or maternal iodine deficiency.
Treatment
Treatment involves daily oral thyroxine (T4) hormone replacement therapy. With early treatment, children can develop normally.
When to See a Doctor
Prompt diagnosis is made through newborn screening. If the screening test is positive, a pediatric endocrinologist will manage the condition.