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Neonatal hypothyroidism - Symptom

Alternative Names

Cretinism; Congenital hypothyroidism; Hypothyroidism - infants

Symptoms:

Most affected infants have few or no symptoms, because they only have a mild decrease in thyroid hormone production. However, infants with severe hypothyroidism often have a distinctive appearance. Symptoms may include:

Puffy-appearing face
Dull look
Thick, protruding tongue

This appearance usually develops as the disease gets worse. The child may also have:

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

Signs and tests:

A physical exam may reveal:

Abnormally large fontanelles (soft spots of the skull)
Broad hands with short fingers
Decreased muscle tone
Growth failure
Hoarse-sounding cry or voice
Short arms and legs
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: 8/15/2007
Alan Greene, MD, FAAP, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital; Chief Medical Officer, A.D.A.M., Inc. Previously reviewed by Robert Hurd, MD, Professor of Endocrinology, Department of Biology, Xavier University, Cincinnati, OH, and physician in the Primary Care Clinic, Cincinnati Veterans Administration Medical Center, Cincinnati, Ohio. Review provided by VeriMed Healthcare Network. (7/17/2007)

References

Harris KB, Pass KA. Increase in congenital hypothyroidism in New York State and in the United States. Mol Genet Metab. 2007; 91(3):268-277.

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