Cretinism

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Diagnosis

Congenital cretinism with severe hypothyroidism can be identified by antenatal screening test in the first month of life.

Technetium (Tc– 99m pertechnetate) thyroid scan.

Radioactive Iodine (RAIU) test (to differentiate between the congenital absence of a defect in the organ formation process).

Postnatal – Blood spot test such as Guthrie’s test.

Elevated serum Thyroid binding globulin (TBG) and TSH level.

Elevated serum T3 and low T4 level.

Treatment

It is recommended that after diagnosis, treatment should be started within 1 -2 weeks of life.

Treatment should be started before the onset of symptoms, if developmental abnormalities and mental retardation start to appear, will not reverse even on thyroid hormone replacement therapy.

Recommended dose is 10 to 15ug per kg body weight. The dose should be increased as the age progresses.

Treatment of thyroxine should be given every day as the mental retardation, which has already been in its initial stages, is only partially reversible. But with treatment within these initial stages of mental retardation, there is a chance for the revival of physical development and growth, and mental retardation can be checked.

To treat cretinism in newborns, doctors called pediatric endocrinologists to provide babies with thyroid hormone, also called levothyroxine. This thyroid hormone comes in the form of pills which parents can crush and add to their milk, formula, or water. While using formulas, parents should be cautious of the ingredients used. Formulas containing ingredients such as soy protein and concentrate can interfere with the absorption of thyroid hormone.