Introduction
Congenital lack of thyroid hormone, also known as congenital hypothyroidism, is a condition present at birth in which the thyroid gland does not produce enough thyroid hormone. These hormones are essential for normal growth, brain development, and metabolism. Early detection and treatment are crucial to prevent serious developmental delays and health problems.
Causes
Congenital hypothyroidism can result from an underdeveloped or absent thyroid gland, a thyroid gland located in an abnormal position, or a defect in hormone production. In most cases, the cause is not inherited, but some genetic forms do exist. Iodine deficiency during pregnancy can also contribute, though this is rare in areas with adequate iodine in the diet.
Symptoms
Most newborns with congenital hypothyroidism have no symptoms at birth, which is why routine screening is important. If untreated, symptoms may develop over weeks or months and can include prolonged jaundice, poor feeding, constipation, low muscle tone, excessive sleepiness, a large tongue, puffy face, hoarse cry, and slow growth. Without treatment, intellectual and physical development can be severely affected.
Diagnosis
Diagnosis is usually made through newborn screening programs, which test for thyroid hormone levels in the first days of life. If the screening suggests hypothyroidism, further blood tests confirm the diagnosis. If you have concerns about your baby’s development or symptoms, consult a doctor promptly.
Treatment Options
Treatment involves daily thyroid hormone replacement medication, usually levothyroxine, started as soon as possible after diagnosis. With early and consistent treatment, most children develop normally and lead healthy lives. Regular follow-up and blood tests are needed to adjust medication as the child grows.
Simple measures such as giving medication at the same time each day and attending all follow-up appointments are important for effective management. If you have questions about your child’s treatment, consult your doctor for guidance.
Prevention
Most cases of congenital hypothyroidism cannot be prevented, but ensuring adequate iodine intake during pregnancy and participating in newborn screening programs are important steps.
Takeaway
Congenital lack of thyroid hormone is a serious but treatable condition. With early diagnosis and proper treatment, most children can achieve normal growth and development. If you have concerns about your baby’s health, consult a doctor for assessment and support.