What is it?

Congenital hypothyroidism is a severe deficiency of thyroid hormone in newborns. It causes impaired neurological function, stunted growth, and physical deformities. This condition may occur because of a problem with the baby’s thyroid gland, or a lack of iodine in the mother’s body during pregnancy. The baby’s body needs iodine to make thyroid hormones. These hormones are essential for healthy growth, brain, and nervous system development.

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Congenital Hypothyroidism (CHT).

Additional names

This group contains additional names:
- Congenital iodine deficiency syndrome
- Endemic cretinism
- Underactive thyroid

Signs & symptoms

Most babies have no obvious signs or symptoms of thyroid hormone deficiency at birth. Other babies may have some of the following features either at birth or developing slowly over the first few months of life:
- A puffy-looking face
- Large, thick tongue
- Large soft spots of the skull
- Hoarse cry
- Distended stomach with outpouching of the belly button (umbilical hernia)
- Feeding problems, including needing to be awakened for feedings and difficulty swallowing
- Constipation
- Floppy (poor muscle tone, also called hypotonia)
- Jaundice (a yellow appearance of the skin and eyes)

Diagnosis

Babies are usually tested for congenital hypothyroidism as part of the standard newborn screening program. A heel–prick blood sample is obtained at 1-2 days of age, this blood test will measure the level of:
- T4 (thyroxine)
- TSH (thyroid stimulating hormone)
If the heel-prick blood T4 level is low and the TSH is elevated, the results suggest congenital hypothyroidism. The screening test results must be confirmed by another blood test, one that is taken directly from a vein. This test will also measure T4 (more often a free T4) and TSH. If the free T4 is low and the TSH is elevated, a diagnosis of congenital hypothyroidism is confirmed. The doctor may also recommend some form of imaging, such as an ultrasound exam or thyroid scan, to look for a specific cause of congenital hypothyroidism.

Treatment

Treatment involves replacing the missing thyroid hormone to restore thyroid hormone levels to normal. The common form of thyroid hormone, considered the best treatment, is called levothyroxine that is identical to the T4 produced by the body. Currently levothyroxine is only available in tablet form. Parents should crush up each day’s tablet, and then mix with a small volume (about 1 tsp) of liquid, either expressed breastmilk, water, or formula. It is extremely important that parents administer thyroid hormone daily to maintain steady blood levels.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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