Understanding Congenital Hypothyroidism: Causes, Symptoms, Diagnosis, Treatment, and Prevention
In congenital hypothyroidism (CH), the thyroid gland does not produce enough thyroid hormone from birth. Congenital hypothyroidism is caused by thyroid dysgenesis (underdevelopment or absence of the thyroid gland), thyroid dyshormonogenesis (abnormal thyroid hormone production), and thyroid disorders or iodine deficiency in pregnant women. In some cases, congenital hypothyroidism may be inherited as a genetic disorder, or it may occur sporadically without a clear underlying cause.
There are many symptoms of congenital hypothyroidism, depending on the severity and age of onset. Common symptoms include:
Newborns with jaundice (yellowing of the skin and eyes)
Weight gain is slow due to poor feeding
Constipation
Dry, coarse skin
Face that is puffy
Hoarse cry
Enlarged tongue
Sitting, crawling, and walking milestones are delayed
Untreated intellectual disability or developmental delay
Congenital hypothyroidism is diagnosed through newborn screening and confirmatory testing:
It is common for newborns to be screened for congenital hypothyroidism through routine newborn screening programs, which involve a blood test (heel prick) to measure thyroid hormone levels shortly after birth. Further testing and evaluation may be necessary if the results are abnormal.
To confirm the diagnosis of congenital hypothyroidism, thyroid function tests (TFTs) are typically repeated, including measurements of thyroid-stimulating hormone (TSH) and free thyroxine (T4) levels. The size and structure of the thyroid gland can also be assessed using imaging studies such as thyroid ultrasound.
Congenital hypothyroidism is treated with lifelong thyroid hormone replacement therapy:
It is the primary treatment for congenital hypothyroidism to take levothyroxine, a synthetic thyroid hormone. A daily medication is administered to replace the deficient thyroid hormone and maintain normal thyroid function. For optimal hormone levels, dosage is adjusted based on periodic thyroid function tests.
Follow-up appointments with a healthcare provider are essential for monitoring thyroid function, adjusting medication dosage, and assessing growth and development. The early initiation of treatment and adherence to medication are crucial to preventing complications and promoting normal growth and development in children with congenital hypothyroidism.
It is important to detect congenital hypothyroidism early through newborn screening and to initiate treatment as soon as possible:
Routine newborn screenings are critical for early detection of congenital hypothyroidism, which allows for timely intervention and treatment. In order to identify and manage congenital hypothyroidism early, newborns need to undergo newborn screenings shortly after birth.
During pregnancy, ensuring adequate thyroid function and iodine intake can reduce the risk of newborn hypothyroidism. To optimize the thyroid health of both mother and fetus, pregnant women with thyroid disorders or iodine deficiency should receive appropriate prenatal care and monitoring.
A congenital hypothyroidism is a condition characterized by a lack of thyroid hormone production at birth. Several factors can cause it, including thyroid dysgenesis, thyroid dyshormonogenesis, maternal thyroid disorders, or iodine deficiency. The diagnosis involves newborn screening and confirmatory testing, and the treatment typically involves levothyroxine replacement therapy for life. For optimal maternal and fetal thyroid health, early detection of congenital hypothyroidism involves newborn screening and adequate prenatal care. It is important to consult with a healthcare provider if you suspect your child may have congenital hypothyroidism or have concerns about thyroid function.
