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Neonatal hypothyroidism

Neonatal hypothyroidism


Definition:

Neonatal hypothyroidism is decreased thyroid hormone production in a newborn. In very rare cases, no thyroid hormone is produced.

If the baby was born with the condition, it is called congenital hypothyroidism. If it develops soon after birth, it is referred to as hypothyroidism acquired in the newborn period.

Alternative Names:
Cretinism; Congenital hypothyroidism; Hypothyroidism - infants
Causes, incidence, and risk factors:

Hypothyroidism in the newborn may be caused by:

  • A missing or abnormally developed thyroid gland
  • Pituitary gland's failure to stimulate the thyroid
  • Defective or abnormal formation of thyroid hormones

Incomplete development of the thyroid is the most common defect and occurs in about 1 out of every 3,000 births. Girls are affected twice as often than boys.

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:


Review Date: 8/15/2007
Reviewed By: 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)

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