What is Congenital Hypothyroidism?
Congenital hypothyroidism is a condition present at birth that results in insufficient production of thyroid hormones. These hormones are crucial for normal growth and brain development. If left untreated, congenital hypothyroidism can lead to intellectual disability and stunted growth.
What Causes Congenital Hypothyroidism?
The most common cause of congenital hypothyroidism is a defect in the development of the thyroid gland. This can include complete absence of the gland (
agenesis), partial development (
hypoplasia), or improper positioning (
ectopic thyroid). Other causes include inherited defects in thyroid hormone production or maternal factors like iodine deficiency.
How is Congenital Hypothyroidism Diagnosed?
Early diagnosis is critical for preventing severe outcomes. Most countries have implemented
newborn screening programs that test for elevated levels of thyroid-stimulating hormone (
TSH) and low levels of thyroxine (
T4). These tests are typically done within the first few days of life through a heel-prick blood sample.
What are the Symptoms of Congenital Hypothyroidism?
Symptoms may not be obvious immediately but can include prolonged
jaundice, a puffy face, a large tongue, poor feeding, constipation, and a hoarse cry. If untreated, symptoms can progress to include poor growth, developmental delays, and severe intellectual disability.
What Treatments are Available?
Treatment involves lifelong supplementation with synthetic thyroid hormone, usually in the form of
levothyroxine. Early treatment, ideally started within the first two weeks of life, is essential for normal growth and cognitive development. Regular monitoring and dose adjustments are crucial as the child grows.
What is the Prognosis for Infants with Congenital Hypothyroidism?
With early and appropriate treatment, infants with congenital hypothyroidism can lead normal, healthy lives. Untreated or late-treated infants, however, are at risk for severe developmental delays and growth issues. Ongoing monitoring and treatment compliance are key to a favorable outcome.
Are There Any Long-term Considerations?
Children with congenital hypothyroidism need regular follow-up appointments to monitor growth, development, and thyroid function. This ensures that their medication dosage remains appropriate as they grow. Parents should be educated about the importance of adherence to treatment and monitoring.
Can Congenital Hypothyroidism be Prevented?
While many cases are due to genetic factors and cannot be prevented, ensuring adequate
iodine intake during pregnancy can reduce the risk of congenital hypothyroidism due to iodine deficiency. Prenatal care and screening can help identify risks and manage them effectively.
