About Congenital Hyperthyroidism (Overactive Thyroid)

Overview
Congenital hyperthyroidism is a rare condition where a baby is born with hyperthyroidism or overactive thyroid. Hyperthyroidism means the thyroid is making too much thyroid hormone. Too much thyroid hormone causes the body’s metabolism to be too active. In an infant, this causes symptoms such as fast heartbeat, high blood pressure, and low weight. Babies with congenital hyperthyroidism usually are born to a mother who had or has Graves disease. In Graves disease, the body produces antibodies that cause the thyroid to produce too much thyroid hormone. The antibodies can be passed to the unborn baby, causing Graves disease in the baby. It is important to treat congenital hyperthyroidism early to prevent complications. In many cases, Graves disease resolves (goes away) in a few months.
Causes and Risk Factors

Congenital hyperthyroidism is a condition a baby is born with a thyroid gland that makes to much thyroid hormone. Congenital hyperthyroidism may be caused by:

  • Maternal Graves' disease: This autoimmune disorder can be passed from mother to baby during pregnancy. The mother’s thyroid-stimulating antibodies can be passed to the baby, where they stimulate the fetal thyroid gland. This leads to overproduction of thyroid hormone in the fetus.
  • Activating mutations in the TSH receptor gene: These genetic mutations can lead to a continuous stimulation of the thyroid gland, resulting in increased hormone production.

The main risk factor for congenital hyperthyroidism is a maternal history of Graves' disease. It is important to note that not all babies born to mothers with Graves disease will have congenital hyperthyroidism. If you have concerns about this condition, it is best to consult with a healthcare professional for personalized advice and guidance.

Symptoms

Symptoms of congenital hyperthyroidism generally are apparent at birth or within the first week. Symptoms include:

  • Low birth weight or poor weight gain
  • Difficulty feeding
  • Rapid heartbeat
  • Warm, moist skin
  • High blood pressure
  • Enlarged thyroid gland (goiter in neck)
  • Trouble breathing
  • Enlarged liver
  • Jaundice (yellowing of the skin and eyes)
  • Irritability

It's important to note that not all newborns with congenital hyperthyroidism will experience the same symptoms, and the severity of symptoms can vary. If you suspect that your child may have congenital hyperthyroidism, it important to consult with a healthcare professional immediately for proper diagnosis and management.

Diagnosis

To diagnose congenital hyperthyroidism, the doctor may perform the following examinations, tests, and procedures:

  • Medical History and Physical Exam: The healthcare provider will ask about the baby’s symptoms and health history, They will also ask about the mother’s medical history. They conduct a physical exam to look for physical signs of the condition, such as swelling in the neck, a fast heart rate, and an enlarged liver.
  • Lab Tests: A blood sample may be drawn and sent to the lab to check the level of thyroid hormone, the level of antibodies, and other signs of thyroid disease.
  • Thyroid ultrasound by be used to check the thyroid for abnormalities.

It's important to consult with your healthcare provider for personalized advice regarding which specific examinations, tests, and procedures are appropriate for your individual situation.

Treatment Options

The goals of treatment for congenital hyperthyroidism are to normalize thyroid hormone levels and support normal growth and development. Treatment options may include:

Medication:

  • Antithyroid drugs (ATDs): These medications, such as methimazole, work by blocking the production of thyroid hormones.
  • Other medications may be used to treat symptoms of hyperthyroidism. An example is use of beta-blockers for a fast heart rate.

Regular monitoring of thyroid hormone levels and follow-up appointments are essential to ensure optimal treatment outcomes. Most cases of congenital hyperthyroidism resolve within a year.

Longer term treatment may be needed for some babies with congenital hyperthyroidism. For older children who continue to have hyperthyroidism, radioactive iodine (RAI) therapy or surgery to remove the thyroid (thyroidectomy) may be treatment options.

It's important to note that each treatment option should be carefully considered and discussed with a healthcare professional to determine the most appropriate approach for an individual's specific condition. Medication dosing may be affected by many factors. Check with your health care professional about dosing for your individual situation. Medication side effects can occur. Check with your health care professional or read the information provided with your medication for additional side effect information.