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Neonatal hypothyroidism - Symptom

Alternative Names

Cretinism; Congenital hypothyroidism; Hypothyroidism - infants

Symptoms:

Most affected infants have few or no symptoms, because their thyroid hormone level is only slightly low. However, 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:

Choking episodes
Constipation
Dry, brittle hair
Jaundice
Lack of muscle tone (floppy infant)
Low hairline
Poor feeding
Short height
Sleepiness
Sluggishness

Signs and tests:

A physical exam may show:

Decreased muscle tone
Failure to grow
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 will be done to check thyroid function. Other tests that may be done include:

Thyroid scan
X-ray of the long bones

Reviewed last on: 6/28/2011
Ari S. Eckman, MD, Chief, Division of Endocrinology, Diabetes and Metabolism, Trinitas Regional Medical Center, Elizabeth, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

LeFranchi S. Hypothyroidism. In: Kliegman RM, Stanton BF, St. Geme III JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011;chap 559.

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