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California Newborn Screening Program

Primary Congenital Hypothyroidism

What is Primary Congenital Hypothyroidism?

Primary Congenital Hypothyroidism (PCH) is an endocrine condition present at birth that occurs when the thyroid gland does not produce enough thyroid hormone to meet the body's needs.  Typically, the thyroid gland makes thyroid hormones, such as thyroxine (T4), which are necessary for brain and central nervous system development as well as muscle and bone growth.  These hormones help to maintain body temperature and assist with intestinal movements.  They also keep the chemical changes which occur in various tissues of the body going at a constant rate.

When primary congenital hypothyroidism occurs, it is usually caused by an undeveloped thyroid gland.  The gland is either too small, located in the wrong place, or was never formed.  An undeveloped thyroid gland either makes small amounts of thyroid hormone or none at all. If primary congenital hypothyroidism is untreated, it can lead to severe mental retardation and growth retardation.  Early identification and treatment of hypothyroidism will prevent severe mental retardation and other health problems.

What are the symptoms?

The characteristic features include puffy eyes, thick tongue, coarse facial features, a hoarse cry, skin mottling (spotting of different coloring on the skin), and lethargy (extreme drowsiness or sluggishness).

What is the treatment?

The treatment requires taking a daily pill of thyroid hormone called thyroxine.  You should always consult your doctor regarding any treatment recommended.

Parents' Guide to Primary Congenital Hypothyroidism - English (PDF)  ...Spanish (PDF)

Last modified on: 8/24/2010 3:26 PM