Cretinism; Congenital hypothyroidism
Neonatal hypothyroidism is decreased thyroid hormone production in a newborn. In very rare cases, no thyroid hormone is produced. The condition is also called congenital hypothyroidism. Congenital means present from birth.
Hypothyroidism in the newborn may be caused by:
- A missing or poorly developed thyroid gland
- A pituitary gland that does not stimulate the thyroid gland
- Thyroid hormones that are poorly formed or do not work
- Medicines the mother took during pregnancy
- Lack of iodine in the mother's diet during pregnancy
- Antibodies made by the mother's body that block the baby's thyroid function
A thyroid gland that is not fully developed is the most common defect. Girls are affected twice as often as boys.
Most affected infants have few or no symptoms. This is because their thyroid hormone level is only slightly low. Infants with severe hypothyroidism often have a unique appearance, including:
- Dull look
- Puffy face
- Thick tongue that sticks out
This appearance usually develops as the disease gets worse.
The child may also have:
Exams and Tests
A physical exam may show:
- Decreased muscle tone
- Slow growth
- Hoarse-sounding cry or voice
- Short arms and legs
- Very large soft spots on the skull (fontanelles)
- Wide hands with short fingers
- Widely separated skull bones
Blood tests are done to check thyroid function. Other tests may include:
Early diagnosis is very important. Most of the effects of hypothyroidism are easy to reverse. For this reason, most US states require that all newborns be screened for hypothyroidism.
Thyroxine is usually given to treat hypothyroidism. Once the child starts taking this medicine, blood tests are regularly done to make sure thyroid hormone levels are in a normal range.
Getting diagnosed early usually leads to a good outcome. Newborns diagnosed and treated in the first month or so usually have normal intelligence.
Untreated mild hypothyroidism can lead to severe intellectual disability and growth problems. The nervous system goes through important development during the first few months after birth. Lack of thyroid hormones can cause damage that cannot be reversed.
When to Contact a Medical Professional
Call your health care provider if:
- You feel your infant shows signs or symptoms of hypothyroidism
- You are pregnant and have been exposed to antithyroid drugs or procedures
If a pregnant woman takes radioactive iodine for thyroid cancer, the thyroid gland may be destroyed in the developing fetus. Infants whose mothers have taken such medicines should be observed carefully after birth for signs of hypothyroidism. Also, pregnant women should not avoid iodine-supplemented salt.
Most states require a routine screening test to check all newborns for hypothyroidism. If your state does not have this requirement, ask your provider if your newborn should be screened.
LeFranchi SH, Huang SA. Hypothyroidism. In: Kliegman RM, Stanton BF, St. Geme, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 565.
Van Vliet G, Deladoëy J. Disorder of the thyroid in the newborn and infant. In: Sperling MA, ed. Pediatric Endocrinology. 4th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 7.
Last reviewed on: 4/27/2015
Reviewed by: Kimberly G Lee, MD, MSc, IBCLC, Associate Professor of Pediatrics, Division of Neonatology, Medical University of South Carolina, Charleston, SC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.