Congenital Hypothyroidism

(Cretinism)

Definition

The thyroid is a gland in the lower neck. It makes hormones that regulate growth, brain development, and metabolism. Hypothyroidism is a low or absent production of these hormones. Congenital means the conditions is present since birth.
The Thyroid Gland
IMAGE
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If this condition is not treated it can cause damage to the brain. This can lead to intellectual disability and abnormal growth.

Causes

In most cases, the cause is unknown. The most common known cause is abnormal development of the thyroid gland. A small percentage of cases are inherited.Babies born before 40 weeks may have a temporary shortage in their thyroid hormones.

Risk Factors

Factors that may increase the chance of congenital hypothyroidism include:
  • Medication during pregnancy, such as radioactive iodine therapy
  • Maternal autoimmune disease
  • Too much iodine during pregnancy
  • Inborn error of metabolism

Symptoms

Symptoms or signs take time to develop. The symptoms of congenital hypothyroidism may include the following:
  • Puffy face
  • Coarse facial features
  • Dull look
  • Thick protruding tongue
  • Poor feeding
  • Choking episodes
  • Constipation or reduced stooling
  • Yellow skin color— jaundice
  • Short stature
  • Swollen abdomen
  • Decreased activity
  • Sleeps a lot
  • Rarely cries or hoarse cry
  • Dry brittle hair; low hairline
  • Poor muscle tone
  • Cool and pale skin
  • Poor weight gain due to poor appetite
  • Poor growth
  • Difficult breathing
  • Low temperature
  • Swollen hands, feet and genitals

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